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Andrea Superti-Furga

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456 publications

2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | ...

2024

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Szakszon K., Lourenco C.M., Callewaert B.L., Geneviève D., Rouxel F., Morin D., Denommé-Pichon A.S., Vitobello A., Patterson W.G., Louie R. et al., 2024/01/19. Journal of medical genetics, 61 (2) pp. 132-141. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_64727C0AA5E2]

2023

Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.

Arlabosse T., Materna M., Riccio O., Schnider C., Angelini F., Perreau M., Rochat I., Superti-Furga A., Campos-Xavier B., Héritier S. et al., 2023/10. Journal of clinical immunology, 43 (7) p. 1674. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_D920DAB3A125]

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

Paganini C., Carroll R.S., Gramegna Tota C., Schelhaas A.J., Leone A., Duker A.L., O'Connell D.A., Coghlan R.F., Johnstone B., Ferreira C.R. et al., 2023/10. Bone, 175 p. 116838. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_CE429C4C1F32]

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

[DOI][WoS][Pmid][serval:BIB_BB16C2AE927C]

Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.

Trevisani V., Balestri E., Napoli M., Caraffi S.G., Baroni M.C., Peluso F., Colonna A., Iughetti L., Gargano G., Superti-Furga A. et al., 2023/08/31. Genes, 14 (9) p. 1745. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_5E77229BB467]

Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Lecca M., Bedeschi M.F., Izzi C., Dordoni C., Rinaldi B., Peluso F., Caraffi S.G., Prefumo F., Signorelli M., Zanzucchi M. et al., 2023/08. Clinical genetics, 104 (2) pp. 230-237. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_9250F2490054]

Prise en charge des maladies rénales génétiques : expérience locale et importance du réseau [Management of genetic renal disorders: local experience and importance of the network]

Bonny O., Ketterer A., Hermida S., Superti-Furga A., Venetz J.P., Chehade H., Fodstad H., Cina V., Parvex P., Paoloni-Giacobino A. et al., 2023/06/21. Revue medicale suisse, 19 (832) pp. 1245-1249. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_9C5896980D20]

Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.

Royer-Bertrand B., Lebon S., Craig A., Maeder J., Mittaz-Crettol L., Fodstad H., Superti-Furga A., Good J.M., 2023/06. American journal of medical genetics. Part A, 191 (6) pp. 1658-1663. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_1128EDF4C0B9]

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.

Koval A., Larasati Y.A., Savitsky M., Solis G.P., Good J.M., Quinodoz M., Rivolta C., Superti-Furga A., Katanaev V.L., 2023/05/12. Med, 4 (5) pp. 311-325.e7. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_0CDBEAD26ACD]

Nosology of genetic skeletal disorders: 2023 revision.

Unger S., Ferreira C.R., Mortier G.R., Ali H., Bertola D.R., Calder A., Cohn D.H., Cormier-Daire V., Girisha K.M., Hall C. et al., 2023/05. American journal of medical genetics. Part A, 191 (5) pp. 1164-1209. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_A5308577ECD7]

Biotinidase deficiency: What have we learned in forty years?

Tankeu A.T., Van Winckel G., Elmers J., Jaccard E., Superti-Furga A., Wolf B., Tran C., 2023/04. Molecular genetics and metabolism, 138 (4) p. 107560. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_794C2E8293EE]

Overweight and obesity in adult patients with phenylketonuria: a systematic review.

Tankeu A.T., Pavlidou D.C., Superti-Furga A., Gariani K., Tran C., 2023/02/22. Orphanet journal of rare diseases, 18 (1) p. 37. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_920FF2B6A864]

Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.

Rivera-Vargas J., Superti-Furga A., Bonafé L., Peña-Padilla C., Cortés-Pastrana R.C., Bobadilla-Morales L., Corona-Rivera A., Corona-Rivera J.R., 2023/01/01. Clinical dysmorphology, 32 (1) pp. 14-17. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_49A7C3F7E927]

2022

Natural history of KBG syndrome in a large European cohort.

Loberti L., Bruno L.P., Granata S., Doddato G., Resciniti S., Fava F., Carullo M., Rahikkala E., Jouret G., Menke L.A. et al., 2022/12/16. Human molecular genetics, 31 (24) pp. 4131-4142. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_CD40BBEC41D3]

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.

Redin C., Pavlidou D.C., Bhuiyan Z., Porretta A.P., Monney P., Bedoni N., Maurer F., Sekarski N., Atallah I., Émeline D. et al., 2022/12. European journal of medical genetics, 65 (12) p. 104627. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_36267BDE9D6F]

SCN5A overlap syndromes: An open-minded approach.

Porretta A.P., Probst V., Bhuiyan Z.A., Davoine E., Delinière A., Pascale P., Schlaepfer J., Superti-Furga A., Pruvot E., 2022/08. Heart rhythm, 19 (8) pp. 1363-1368. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_E6B016D96A8A]

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Velmans C., O'Donnell-Luria A.H., Argilli E., Tran Mau-Them F., Vitobello A., Chan M.C., Fung J.L., Rech M., Abicht A., Aubert Mucca M. et al., 2022/07. Journal of medical genetics, 59 (7) pp. 697-705. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_83FFDC95F451]

Obituary for Claude Bachmann, MD (1941–2022).

Batshaw ML, Braissant O., Dionisi-Vici C., Steinmann B., Superti-Furga A., 2022/05. Journal of Inherited Metabolic Disease, 45 (3) pp. 657-658. Peer-reviewed.

[DOI][WoS][serval:BIB_C276F4700419]

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.

Quinodoz M., Peter V.G., Cisarova K., Royer-Bertrand B., Stenson P.D., Cooper D.N., Unger S., Superti-Furga A., Rivolta C., 2022/03/03. American journal of human genetics, 109 (3) pp. 457-470. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_00A3C85AEFEA]

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.

Dentici M.L., Alesi V., Quinodoz M., Robens B., Guerin A., Lebon S., Poduri A., Travaglini L., Graziola F., Afenjar A. et al., 2022/03. Journal of medical genetics, 59 (3) pp. 262-269. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_074A446B57C9]

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Rosato S., Unger S., Campos-Xavier B., Caraffi S.G., Beltrami L., Pollazzon M., Ivanovski I., Castori M., Bonasoni M.P., Comitini G. et al., 2022/01/28. Genes, 13 (2) p. 261. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_992E2C5FF127]

A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.

Cisarova K., Garavelli L., Caraffi S.G., Peluso F., Valeri L., Gargano G., Gavioli S., Trimarchi G., Neri A., Campos-Xavier B. et al., 2022/01. American journal of medical genetics. Part A, 188 (1) pp. 319-325. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_0ACD45308BA8]

Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.

Atallah I., McCormick D., Good J.M., Barigou M., Fraga M., Sempoux C., Superti-Furga A., Semple R.K., Tran C., 2022. Journal of clinical lipidology, 16 (5) pp. 583-590. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_E5FCC361A247]

2021

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Pollazzon M., Caraffi S.G., Faccioli S., Rosato S., Fodstad H., Campos-Xavier B., Soncini E., Comitini G., Frattini D., Grimaldi T. et al., 2021/12/23. Genes, 13 (1) p. 29. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_9DFD90B994C1]

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.

El Mouatani A., Van Winckel G., Zaafrane-Khachnaoui K., Whalen S., Achaiaa A., Kaltenbach S., Superti-Furga A., Vekemans M., Fodstad H., Giuliano F. et al., 2021/12. American journal of medical genetics. Part A, 185 (12) pp. 3831-3837. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_067C6101290D]

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Royer-Bertrand B., Jequier Gygax M., Cisarova K., Rosenfeld J.A., Bassetti J.A., Moldovan O., O'Heir E., Burrage L.C., Allen J., Emrick L.T. et al., 2021/10/26. Molecular autism, 12 (1) p. 69. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_665170C14526]

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Rodan L.H., Spillmann R.C., Kurata H.T., Lamothe S.M., Maghera J., Jamra R.A., Alkelai A., Antonarakis S.E., Atallah I., Bar-Yosef O. et al., 2021/10. Genetics in medicine, 23 (10) p. 2016. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_16014972BDE3]

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

[DOI][WoS][Pmid][serval:BIB_1C202819AA37]

Correction to: Elevated lactate in Mauriac syndrome: still a mystery.

Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/09/30. BMC endocrine disorders, 21 (1) p. 194. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_C20E707E2A26]

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

Rehman A.U., Sepahi N., Bedoni N., Ravesh Z., Salmaninejad A., Cancellieri F., Peter V.G., Quinodoz M., Mojarrad M., Pasdar A. et al., 2021/09/29. Scientific reports, 11 (1) p. 19332. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_F47F704E68B0]

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

Royer-Bertrand B., Cisarova K., Niel-Butschi F., Mittaz-Crettol L., Fodstad H., Superti-Furga A., 2021/09/16. Genes, 12 (9) p. 1427. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_FEB505D01ED8]

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.

Lebon S., Quinodoz M., Peter V.G., Gengler C., Blanchard G., Cina V., Campos-Xavier B., Rivolta C., Superti-Furga A., 2021/09/10. Genes, 12 (9) p. 1397. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_14ADEBC9C07B]

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K<sup>+</sup> channelopathies.

Gripp K.W., Smithson S.F., Scurr I.J., Baptista J., Majumdar A., Pierre G., Williams M., Henderson L.B., Wentzensen I.M., McLaughlin H. et al., 2021/09. European journal of human genetics, 29 (9) pp. 1384-1395. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_FB1A5B23DB43]

The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.

Tran C., Turolla L., Ballhausen D., Buros S.C., Teav T., Gallart-Ayala H., Ivanisevic J., Faouzi M., Lefeber D.J., Ivanovski I. et al., 2021/09. Molecular genetics and metabolism reports, 28 p. 100777. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_965C3E713BFF]

Elevated lactate in Mauriac syndrome: still a mystery.

Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/08/21. BMC endocrine disorders, 21 (1) p. 172. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_8EAC9E849686]

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.

Upadhyai P., Radhakrishnan P., Guleria V.S., Kausthubham N., Nayak S.S., Superti-Furga A., Girisha K.M., 2021/08. Human mutation, 42 (8) pp. 1005-1014. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_9F58A8528769]

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.

Royer-Bertrand B., Cisarova K., Niel Bütschi F., Foletti G., Guinchat V., Tran C., Superti-Furga A., Good J.M., 2021/08. American journal of medical genetics. Part A, 185 (8) pp. 2602-2606. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_F533D2A35FEA]

Classical homocystinuria, is it safe to exercise?

Tankeu A.T., Van Winckel G., Campos-Xavier B., Braissant O., Pedro R., Superti-Furga A., Amati F., Tran C., 2021/06. Molecular genetics and metabolism reports, 27 p. 100746. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_D434B028D266]

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Atallah I., Quinodoz M., Campos-Xavier B., Peter V.G., Fouriki A., Bonvin C., Bottani A., Kumps C., Angelini F., Bellutti Enders F. et al., 2021/06. Clinical genetics, 99 (6) pp. 780-788. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_ED69F497CA09]

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Good J.M., Atallah I., Castro Jimenez M., Benninger D., Kuntzer T., Superti-Furga A., Tran C., 2021/05/06. Genes, 12 (5) p. 695. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_EF75CA328A1A]

Cancer surveillance in children with Ollier Disease and Maffucci Syndrome.

Diezi M., Zambelli P.Y., Superti-Furga A., Unger S., Renella R., 2021/04. American journal of medical genetics. Part A, 185 (4) pp. 1338-1340. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_856FB220C691]

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

Allou L., Balzano S., Magg A., Quinodoz M., Royer-Bertrand B., Schöpflin R., Chan W.L., Speck-Martins C.E., Carvalho D.R., Farage L. et al., 2021/04. Nature, 592 (7852) pp. 93-98. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_C3BBE7F51AD8]

Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine.

Paganini C., Gramegna Tota C., Monti L., Monti I., Maurizi A., Capulli M., Bourmaud M., Teti A., Cohen-Solal M., Villani S. et al., 2021/03. Biochemical pharmacology, 185 p. 114452. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_DB288C66CCE3]

Spinal cerebrotendinous xanthomatosis: A case report and literature review.

Atallah I., Millán D.S., Benoît W., Campos-Xavier B., Superti-Furga A., Tran C., 2021/03. Molecular genetics and metabolism reports, 26 p. 100719. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_94C28276E9CC]

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.

Botto L.D., Meeths M., Campos-Xavier B., Bergamaschi R., Mazzanti L., Scarano E., Finocchi A., Cancrini C., Zirn B., Kühnle I. et al., 2021/02. American journal of medical genetics. Part A, 185 (2) pp. 517-527. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_60645E52F6A8]

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.

Quinodoz M., Peter V.G., Bedoni N., Royer Bertrand B., Cisarova K., Salmaninejad A., Sepahi N., Rodrigues R., Piran M., Mojarrad M. et al., 2021/01/22. Nature communications, 12 (1) p. 518. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_03712A3BC8BB]

Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy.

Guzzo G., Sadallah S., Fodstad H., Venetz J.P., Rotman S., Teta D., Gauthier T., Pantaleo G., Superti-Furga A., Pascual M., 2021. Frontiers in genetics, 12 p. 529236. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_AA15A6D9CD84]

2020

Nouveautés dans le traitement des malformations veineuses complexes : le laser endoveineux [Advances in the treatment of complex venous malformation: endovenous laser]

Fresa M., Ney B., Qanadli S.D., Saliou G., Superti-Furga A., De Buys A., El Ezzi O., Raffoul W., Mazzolai L., 2020/12/09. Revue medicale suisse, 16 (718) pp. 2387-2390. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_2A766E3E7454]

Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.

Kumps C., Niel Bütschi F., Rapin B., Baud D., Pescia G., Robyr D., Superti-Furga A., Unger S., 2020/11. Journal of human genetics, 65 (11) pp. 1035-1038. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_250C664EBA51]

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.

Gariani K., Nascimento M., Superti-Furga A., Tran C., 2020/08/18. Orphanet journal of rare diseases, 15 (1) p. 210. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_F18ECE2A85F7]

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Bedoni N., Quinodoz M., Pinelli M., Cappuccio G., Torella A., Nigro V., Testa F., Simonelli F., TUDP (Telethon Undiagnosed Disease Program), Corton M. et al., 2020/08/03. Human molecular genetics, 29 (13) pp. 2250-2260. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_1FB698775904]

Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]

Porretta A.P., Davoine E., Superti-Furga A., Bhuiyan Z.A., Domenichini G., Herrera Siklody C., Pascale P., Haddad C., Schläpfer J., Pruvot É., 2020/06/03. Revue medicale suisse, 16 (696) pp. 1148-1152. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_BDD3E3FCB0E0]

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.

Härter B., Benedicenti F., Karall D., Lausch E., Schweigmann G., Stanzial F., Superti-Furga A., Scholl-Bürgi S., 2020/06. Molecular genetics & genomic medicine, 8 (6) pp. e1203. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_408DF9868F37]

Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis.

Bürgi J., Abrami L., Castanon I., Abriata L.A., Kunz B., Yan S.E., Lera M., Unger S., Superti-Furga A., Peraro M.D. et al., 2020/05/18. Developmental cell, 53 (4) pp. 418-430.e4. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_589E9F0B5581]

Skeletal Dysplasias Caused by Sulfation Defects.

Paganini C., Gramegna Tota C., Superti-Furga A., Rossi A., 2020/04/14. International journal of molecular sciences, 21 (8) p. 2710. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_0257CE41F1A7]

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.

Kumps C., Campos-Xavier B., Hilhorst-Hofstee Y., Marcelis C., Kraenzlin M., Fleischer N., Unger S., Superti-Furga A., 2020/04/14. Genes, 11 (4) p. 420. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_DA412F996FF0]

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Mizumoto S., Janecke A.R., Sadeghpour A., Povysil G., McDonald M.T., Unger S., Greber-Platzer S., Deak K.L., Katsanis N., Superti-Furga A. et al., 2020/03. Human mutation, 41 (3) pp. 655-667. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_CED95552EEA3]

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Bastos F., Quinodoz M., Addor M.C., Royer-Bertrand B., Fodstad H., Rivolta C., Poloni C., Superti-Furga A., Roulet-Perez E., Lebon S., 2020/01/13. BMC neurology, 20 (1) p. 17. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_8835342E4A2F]

2019

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.

Rehman A.U., Peter V.G., Quinodoz M., Rashid A., Khan S.A., Superti-Furga A., Rivolta C., 2019/12/21. Genes, 11 (1). Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_2FF63BD2181F]

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Kariminejad A., Szenker-Ravi E., Lekszas C., Tajsharghi H., Moslemi A.R., Naert T., Tran H.T., Ahangari F., Rajaei M., Nasseri M. et al., 2019/12/05. American journal of human genetics, 105 (6) pp. 1294-1301. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_2B1E99159557]

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier G.R., Cohn D.H., Cormier-Daire V., Hall C., Krakow D., Mundlos S., Nishimura G., Robertson S., Sangiorgi L., Savarirayan R. et al., 2019/12. American journal of medical genetics. Part A, 179 (12) pp. 2393-2419. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_3FCA33964CB5]

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.

Peter V.G., Quinodoz M., Pinto-Basto J., Sousa S.B., Di Gioia S.A., Soares G., Ferraz Leal G., Silva E.D., Pescini Gobert R., Miyake N. et al., 2019/12. Genetics in medicine, 21 (12) pp. 2734-2743. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_E8A5E155FB34]

Tests génétiques préimplantatoires : enjeux légaux et éthiques dans la pratique clinique [Preimplantation genetic testing: legal and ethical aspects in clinical practice]

Simon J.P., Pradervand P.A., Cina V., Superti-Furga A., Primi M.P., Leyvraz-Recrosio C., Fischer M., Vulliemoz N., 2019/10/23. Revue medicale suisse, 15 (668) pp. 1909-1913. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_9D32B263CCEE]

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Caraffi S.G., Maini I., Ivanovski I., Pollazzon M., Giangiobbe S., Valli M., Rossi A., Sassi S., Faccioli S., Rocco M.D. et al., 2019/10/12. Genes, 10 (10). Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_A45F263542B7]

Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.

Paganini C., Costantini R., Superti-Furga A., Rossi A., 2019/08. The FEBS journal, 286 (15) pp. 3008-3032. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_606EDC8CBB95]

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.

Whyte M.P., Leung E., Wilcox W.R., Liese J., Argente J., Martos-Moreno G.Á., Reeves A., Fujita K.P., Moseley S., Hofmann C. et al., 2019/06. The Journal of pediatrics, 209 pp. 116-124.e4. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_CFABE17C4201]

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.

Royer-Bertrand B., Tsouni P., Mullen P., Campos Xavier B., Mittaz Crettol L., Lobrinus A.J., Ghika J., Baumgartner M.R., Rivolta C., Superti-Furga A. et al., 2019/06. Annals of clinical and translational neurology, 6 (6) pp. 1072-1080. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_A5E82CF1AF17]

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Peter V.G., Nikopoulos K., Quinodoz M., Granse L., Farinelli P., Superti-Furga A., Andréasson S., Rivolta C., 2019/04. Ophthalmic genetics, 40 (2) pp. 177-181. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_082BF22F4E9C]

Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.

Voinea C., Gonzalez Rodriguez E., Beigelman-Aubry C., Leroy V., Aubry-Rozier B., Campos-Xavier B., Ballhausen D., Lazor R., Barbey F., Bonafé L. et al., 2019/03. Journal of bone and mineral metabolism, 37 (2) pp. 378-383. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_11FF7C377058]

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

Thompson E., Abdalla E., Superti-Furga A., McAlister W., Kratz L., Unger S., Royer-Bertrand B., Campos-Xavier B., Mittaz-Crettol L., Amin A.K. et al., 2019/03. Bone, 120 pp. 354-363. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_7E21E815D10E]

Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Torreggiani S., Torcoletti M., Campos-Xavier B., Baldo F., Agostoni C., Superti-Furga A., Filocamo G., 2019/03. Rheumatology international, 39 (3) pp. 441-452. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_D0D0FB23BE11]

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A., Witkos T.M., Unger S., Schneider J., Follit J.A., Hermann J., Welting T., Fano V., Hietala M., Vatanavicharn N. et al., 2019/02/07. JCI insight, 4 (3) pp. e124701. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_FFBC7D52BB3D]

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S., Elcioglu N.H., Koca S.S., Yesodharan D., Kk C., Krishnan V., Bhat M., Mohandas Nair K, Radhakrishnan N., Kappanayil M. et al., 2019/01. Clinical dysmorphology, 28 (1) pp. 7-16. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_4B4DB483F7A2]

2018

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.

Campos-Xavier B., Rogers R.C., Niel-Bütschi F., Ferreira C., Unger S., Spranger J., Superti-Furga A., 2018/12. American journal of medical genetics. Part A, 176 (12) pp. 2934-2935. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_923350BBEBB0]

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

De Bernardi M.L., Ivanovski I., Caraffi S.G., Maini I., Street M.E., Bayat A., Zollino M., Lepri F.R., Gnazzo M., Errichiello E. et al., 2018/09. American journal of medical genetics. Part A, 176 (9) pp. 1991-1995. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_39C7B90FA32A]

A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.

Maroofian R., Murdocca M., Rezaei-Delui H., Nekooei A., Mojarad M., Sangiuolo F., Novelli G., Superti-Furga A., D'Apice M.R., 2018/07. Clinical dysmorphology, 27 (3) pp. 88-90. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_8B92FDB4224E]

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

Pollazzon M., Rosato S., Ivanovski I., Gelmini C., Bertani G., Pascarella R., Napoli M., Garavelli L., Unger S., Superti-Furga A., 2018/07. Clinical dysmorphology, 27 (3) pp. 105-108. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_A401A29EE373]

2017

Maladies vasculaires rares, mise en place d’un centre multidisciplinaire spécialisé au CHUV [Rare vascular diseases, building dedicated multidisciplinary specialized center]

Krieger C., Baud D., Bouchardy J., Christen-Zaech S., De Buys A., Deglise S., El Ezzi O., Fresa M., Hofer M., Hohl D. et al., 2017/12/06. Revue medicale suisse, 13 (586) pp. 2109-2115. Peer-reviewed.

[Pmid][serval:BIB_87537126CDFD]

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N., Wolf N.I., Cayami F.K., Crawford J., Bley A., Bulas D., Conant A., Bent S.J., Gripp K.W., Hahn A. et al., 2017/12. Neurogenetics, 18 (4) pp. 185-194. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_8DE9A339FE79]

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee C.S., Fu H., Baratang N., Rousseau J., Kumra H., Sutton V.R., Niceta M., Ciolfi A., Yamamoto G., Bertola D. et al., 2017/11/02. American journal of human genetics, 101 (5) pp. 815-823. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_D12E5334C4E8]

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Quinodoz M., Royer-Bertrand B., Cisarova K., Di Gioia S.A., Superti-Furga A., Rivolta C., 2017/10/05. American journal of human genetics, 101 (4) pp. 623-629. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_5037815084FE]

Genetic disorders of bone - An historical perspective.

Superti-Furga A., Unger S., 2017/09. Bone, 102 pp. 1-4. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_570DD056A815]

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.

Bürgi J., Kunz B., Abrami L., Deuquet J., Piersigilli A., Scholl-Bürgi S., Lausch E., Unger S., Superti-Furga A., Bonaldo P. et al., 2017/06/12. Nature communications, 8 p. 15861. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_D06F5FC5430F]

The multiple faces of artwork diagnoses.

Benedicenti F., Superti-Furga A., 2017/06. The Lancet. Neurology, 16 (6) p. 417. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_AA5059953EBD]

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L., Wen X.Y., Tarailo-Graovac M., Balzano S., Royer-Bertrand B., Ashikov A., Garavelli L., Mammi I., Turolla L. et al., 2017/05/26. Nature genetics, 49 (6) p. 969. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_84E06E6A6A97]

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade E.M., Jenkins Z.A., Daniel P.B., Morgan T., Addor M.C., Adés L.C., Bertola D., Bohring A., Carter E., Cho T.J. et al., 2017/05/12. American journal of medical genetics. Part A, 173 (7) pp. 1730-1746. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_1A54928B107C]

Séquençage à haut débit : outil de diagnostic des déficits immunitaires héréditaires [Next generation sequencing : a diagnostic tool for inherited immune defects]

Droz-Georget S., Riccio O., Royer-Bertrand B., Superti-Furga A., Candotti F., 2017/04/05. Revue medicale suisse, 13 (557) pp. 763-766. Peer-reviewed.

[Pmid][serval:BIB_5CC64A51219F]

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.

Meester J.A., Vandeweyer G., Pintelon I., Lammens M., Van Hoorick L., De Belder S., Waitzman K., Young L., Markham L.W., Vogt J. et al., 2017/04. Genetics in medicine, 19 (4) pp. 386-395. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_BC357EF48A1B]

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S., Yamazaki Y., Brauer P.M., van Rooijen E., Hayashida A., Slavotinek A., Sun Kuehn H., Di Rocco M., Rivolta C., Bortolomai I. et al., 2017/03/06. The Journal of experimental medicine, 214 (3) pp. 623-637. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_A5331400A820]

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K., Jain M., Almannai M., Orand T., Lu J.T., Tran A., Chen Y., Schlesinger A., Gibbs R., Bonafe L. et al., 2017/03. American journal of medical genetics. Part A, 173 (3) pp. 733-739. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_B512148737EB]

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Vodopiutz J., Mizumoto S., Lausch E., Rossi A., Unger S., Janocha N., Costantini R., Seidl R., Greber-Platzer S., Yamada S. et al., 2017/01. Human mutation, 38 (1) pp. 34-38. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_33E3753767A6]

2016

Bone Formation and the Wnt Signaling Pathway.

Gori F., Superti-Furga A., Baron R., 2016/11/10. The New England journal of medicine, 375 (19) pp. 1902-1903. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_BABC73EDC157]

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Garavelli L., Maini I., Baccilieri F., Ivanovski I., Pollazzon M., Rosato S., Iughetti L., Unger S., Superti-Furga A., Tartaglia M., 2016/10. European journal of pediatrics, 175 (10) pp. 1307-1315. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_E38F53238588]

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade E.M., Daniel P.B., Jenkins Z.A., McInerney-Leo A., Leo P., Morgan T., Addor M.C., Adès L.C., Bertola D., Bohring A. et al., 2016/08/04. American journal of human genetics, 99 (2) pp. 392-406. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_CD2DAF16D086]

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Cho S.Y., Bae J.S., Kim N.K., Forzano F., Girisha K.M., Baldo C., Faravelli F., Cho T.J., Kim D., Lee K.Y. et al., 2016/06/02. American journal of human genetics, 98 (6) pp. 1243-1248. Peer-reviewed.

[DOI][Pmid][serval:BIB_D3A1222A286B]

Infections des voies respiratoires chez l'enfant: où en sommes-nous en 2016? [Respiratory tract infections in childhood: what's our status in 2016?]

Barazzone-Argiroffo C., Superti-Furga A., Posfay-Barbe K., Asner S., 2016/02/17. Revue medicale suisse, 12 (506) pp. 331-332. Peer-reviewed.

[Pmid][serval:BIB_EAA609837247]

Pédiatrie [News in paediatrics]

Depallens S., Lutz N., Carlomagno R., Meyrat B., Barazzoni M.S., Tchameni Y.Y., Pascual A., Scerba F., Superti-Furga A., 2016/01/13. Revue medicale suisse, 12 (500) pp. 71-74.

[URN][Pmid][serval:BIB_8791D8A1DFDC]

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Pichler K., Karall D., Kotzot D., Steichen-Gersdorf E., Rümmele-Waibel A., Mittaz-Crettol L., Wanschitz J., Bonafé L., Maurer K., Superti-Furga A. et al., 2016. Scientific Reports, 6 p. 34017. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_27D25FD23D2D]

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

Bonafé L., Kariminejad A., Li J., Royer-Bertrand B., Garcia V., Mahdavi S., Bozorgmehr B., Lachman R.L., Mittaz-Crettol L., Campos-Xavier B. et al., 2016. Arthritis and Rheumatology (hoboken, N.j.), 68 (9) pp. 2323-2327. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_6E3000B54532]

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Simsek Kiper P.O., Saito H., Gori F., Unger S., Hesse E., Yamana K., Kiviranta R., Solban N., Liu J., Brommage R. et al., 2016. New England Journal of Medicine, 374 (26) pp. 2553-2562. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_8239D3D6D9DF]

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M., Shyr C., Ross C.J., Horvath G.A., Salvarinova R., Ye X.C., Zhang L.H., Bhavsar A.P., Lee J.J., Drögemöller B.I. et al., 2016. New England Journal of Medicine, 374 (23) pp. 2246-2255. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_3AE670C41F40]

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek C.D., Bonafé L., Wen X.Y., Tarailo-Graovac M., Balzano S., Royer-Bertrand B., Ashikov A., Garavelli L., Mammi I., Turolla L. et al., 2016. Nature Genetics, 48 (7) pp. 777-784. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_71E97DD0E8A8]

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Mattioli F., Piton A., Gérard B., Superti-Furga A., Mandel J.L., Unger S., 2016. American Journal of Medical Genetics. Part A, 170 (6) pp. 1626-1629. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_DEA790DCF6C4]

Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders

Superti-Furga A., Unger S., 2016. pp. 681-699 dans GENETIC DISORDERS AND THE FETUS: DIAGNOSIS, PREVENTION, AND TREATMENT, Wiley.

[WoS][serval:BIB_F14E199ECEC4]

2015

La transition entre la prise en charge en pédiatrie et celle chez le médecin de l'adulte, ou l'importance de bien "faire le pont" [The transition from pediatric care to the doctor and that of the adult, or the importance of "bridging the gap"]

Superti-Furga A., Barazzone-Argiroffo C., Waeber G., Gaspoz J.M., 2015/02/18. Revue medicale suisse, 11 (462) pp. 431-432. Peer-reviewed.

[Pmid][serval:BIB_D3D29212C86E]

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Shaheen R., Schmidts M., Faqeih E., Hashem A., Lausch E., Holder I., Superti-Furga A., UK10K Consortium, Mitchison H.M., Mitchison H.M. et al., 2015. Human Molecular Genetics, 24 (5) pp. 1410-1419. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_3DF36F36093F]

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Gioia S.A., Bedoni N., von Scheven-Gête A., Vanoni F., Superti-Furga A., Hofer M., Rivolta C., 2015. Scientific Reports, 5 p. 10200. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_7BCD00A04B55]

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

Palagano E., Blair H.C., Pangrazio A., Tourkova I., Strina D., Angius A., Cuccuru G., Oppo M., Uva P., Van Hul W. et al., 2015. Journal of Bone and Mineral Research, 30 (10) pp. 1814-1821. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_B6844F2E5DA5]

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

Banka S., Cain S.A., Carim S., Daly S.B., Urquhart J.E., Erdem G., Harris J., Bottomley M., Donnai D., Kerr B. et al., 2015. Annals of the Rheumatic Diseases, 74 (6) pp. 1249-1256. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_A499F7EEEDBE]

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

Dikoglu E., Alfaiz A., Gorna M., Bertola D., Chae J.H., Cho T.J., Derbent M., Alanay Y., Guran T., Kim O.H. et al., 2015. American Journal of Medical Genetics. Part A, 167 (7) pp. 1501-1509. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_5FC5887518A1]

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

Royer-Bertrand B., Castillo-Taucher S., Moreno-Salinas R., Cho T.J., Chae J.H., Choi M., Kim O.H., Dikoglu E., Campos-Xavier B., Girardi E. et al., 2015. Scientific Reports, 5 p. 17154. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_825739ACCA7E]

N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia.

Monti L., Paganini C., Lecci S., De Leonardis F., Hay E., Cohen-Solal M., Villani S., Superti-Furga A., Tenni R., Forlino A. et al., 2015. Human Molecular Genetics, 24 (19) pp. 5570-5580. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_E41CFFD2210F]

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

Segarra N.G., Ballhausen D., Crawford H., Perreau M., Campos-Xavier B., van Spaendonck-Zwarts K., Vermeer C., Russo M., Zambelli P.Y., Stevenson B. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2902-2912. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_D06FCFC24F20]

Nosology and classification of genetic skeletal disorders: 2015 revision.

Bonafe L., Cormier-Daire V., Hall C., Lachman R., Mortier G., Mundlos S., Nishimura G., Sangiorgi L., Savarirayan R., Sillence D. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2869-2892. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_5222C1260593]

Significant clinical benefits of molecular studies in the skeletal dysplasias.

Superti-Furga A., 2015. American Journal of Medical Genetics. Part A, 167A (3) pp. 476-477.

[DOI][WoS][Pmid][serval:BIB_4A315A82701D]

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.

C Silveira K., C Bonadia L., Superti-Furga A., R Bertola D., A L Jorge A., P Cavalcanti D., 2015. American Journal of Medical Genetics. Part A, 167 (4) pp. 894-901. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_B5F8AE6D757E]

2014

Multiple sulfatase deficiency with neonatal manifestation.

Garavelli L., Santoro L., Iori A., Gargano G., Braibanti S., Pedori S., Melli N., Frattini D., Zampini L., Galeazzi T. et al., 2014/12/17. Italian journal of pediatrics, 40 p. 86. Peer-reviewed.

[URN][DOI][Pmid][serval:BIB_AC9BBE40A9FC]

La prématurité concerne-t-elle L'âge adulte? [Does prematurity affect adulthood?]

Argiroffo C.B., Superti-Furga A., 2014/02/19. Revue medicale suisse, 10 (418) pp. 419-420. Peer-reviewed.

[Pmid][serval:BIB_AAB360A56A7C]

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Pangrazio A., Puddu A., Oppo M., Valentini M., Zammataro L., Vellodi A., Gener B., Llano-Rivas I., Raza J., Atta I. et al., 2014/02. Bone, 59 pp. 122-126. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_84BA456CE001]

Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation.

Gopakumar H., Superti-Furga A., Unger S., Scherer G., Rajiv P.K., Nampoothiri S., 2014. Indian Journal of Pediatrics, 81 (1) pp. 98-100.

[DOI][WoS][Pmid][serval:BIB_D60C135BCF00]

Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.

Ben-Omran T., Lakhani S., Almureikhi M., Ali R., Takahashi A., Miyake N., Matsumoto N., Ikegawa S., Superti-Furga A., Unger S., 2014. American Journal of Medical Genetics. Part A, 164 (9) pp. 2147-2152. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_C1FABD4106F9]

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.

Nampoothiri S., Yesodharan D., Sainulabdin G., Narayanan D., Padmanabhan L., Girisha K.M., Cathey S.S., De Paepe A., Malfait F., Syx D. et al., 2014. American Journal of Medical Genetics. Part A, 164 (9) pp. 2317-2323. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_A2661FFCF837]

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Bonafé L., Liang J., Gorna M.W., Zhang Q., Ha-Vinh R., Campos-Xavier A.B., Unger S., Beckmann J.S., Le Béchec A., Stevenson B. et al., 2014. American Journal of Medical Genetics. Part A, 164 (5) pp. 1175-1179. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_AA520EFE4A1E]

Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.

Bin B.H., Hojyo S., Hosaka T., Bhin J., Kano H., Miyai T., Ikeda M., Kimura-Someya T., Shirouzu M., Cho E.G. et al., 2014. Embo Molecular Medicine, 6 (8) pp. 1028-1042. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_F7944A3B27F5]

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Simsek-Kiper P.O., Dikoglu E., Campos-Xavier B., Utine G.E., Bonafe L., Unger S., Boduroglu K., Superti-Furga A., 2014. American Journal of Medical Genetics. Part A, 164A (10) pp. 2667-2671. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_96A0E52924C1]

2013

Progrès dans la prise en charge des problématiques psychosociales en pédiatrie [Progress in the management of psychosocial problems in pediatrics]

Superti-Furga A., Barazzone C., 2013/02/20. Revue medicale suisse, 9 (374) pp. 395-396. Peer-reviewed.

[Pmid][serval:BIB_968E649C22AD]

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

Meazza C., Lausch E., Pagani S., Bozzola E., Calcaterra V., Superti-Furga A., Silengo M., Bozzola M., 2013. Italian Journal of Pediatrics, 39 (21) pp. 1-6.

[URN][DOI][WoS][Pmid][serval:BIB_3576B4FB1CE9]

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome.

Guen V.J., Gamble C., Flajolet M., Unger S., Thollet A., Ferandin Y., Superti-Furga A., Cohen P.A., Meijer L., Colas P., 2013. Proceedings of the National Academy of Sciences of the United States of America, 110 (48) pp. 19525-19530. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_A92DE51BA5B8]

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Schmidts M., Arts H.H., Bongers E.M., Yap Z., Oud M.M., Antony D., Duijkers L., Emes R.D., Stalker J., Yntema J.B. et al., 2013. Journal of Medical Genetics, 50 (5) pp. 309-323.

[URN][DOI][WoS][Pmid][serval:BIB_541F311E8BA7]

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia.

Huber C., Faqeih E.A., Bartholdi D., Bole-Feysot C., Borochowitz Z., Cavalcanti D.P., Frigo A., Nitschke P., Roume J., Santos H.G. et al., 2013. American Journal of Human Genetics, 92 (1) pp. 144-149. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_70E3F45EC7E0]

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development.

Unger S., Górna M.W., Le Béchec A., Do Vale-Pereira S., Bedeschi M.F., Geiberger S., Grigelioniene G., Horemuzova E., Lalatta F., Lausch E. et al., 2013. American Journal of Human Genetics, 92 (6) pp. 990-995.

[DOI][WoS][Pmid][serval:BIB_CD1DA3031C71]

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Garavelli L., Simonte G., Rosato S., Wischmeijer A., Albertini E., Guareschi E., Longo C., Albertini G., Gelmini C., Greco C. et al., 2013. American Journal of Medical Genetics. Part A, 161 (7) pp. 1750-1754. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_5AE612E6DE45]

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Dikoglu E., Simsek-Kiper P.O., Utine G.E., Campos-Xavier B., Boduroglu K., Bonafé L., Superti-Furga A., Unger S., 2013. American Journal of Medical Genetics. Part A, 161A (12) pp. 3161-3165. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_38C4C1110B93]

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy.

Yan S.E., Lemmin T., Salvi S., Lausch E., Superti-Furga A., Rokicki D., Dal Peraro M., van der Goot F.G., 2013. Human Mutation, 34 (7) pp. 1005-1017.

[DOI][WoS][Pmid][serval:BIB_4098EED53B55]

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Schinzel A., Riegel M., Baumer A., Superti-Furga A., Moreira L.M., Santo L.D., Schiper P.P., Carvalho J.H., Giedion A., 2013. American Journal of Medical Genetics. Part A, 161 (9) pp. 2216-2225. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_1F105E40E2CA]

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L., Piemontese M.R., Cavazza A., Rosato S., Wischmeijer A., Gelmini C., Albertini E., Albertini G., Forzano F., Franchi F. et al., 2013. American Journal of Medical Genetics. Part A, 161A (11) pp. 2894-2901. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_368FC519AE94]

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Nakajima M., Mizumoto S., Miyake N., Kogawa R., Iida A., Ito H., Kitoh H., Hirayama A., Mitsubuchi H., Miyazaki O. et al., 2013. American Journal of Human Genetics, 92 (6) pp. 927-934. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_E9557C71FA1B]

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Savoldi G., Izzi C., Signorelli M., Bondioni M.P., Romani C., Lanzi G., Moratto D., Verdoni L., Pinotti M., Prefumo F. et al., 2013. American Journal of Medical Genetics. Part A, 161 (10) pp. 2614-2619. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_72D0D5C4D91F]

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Grünert S.C., Müllerleile S., De Silva L., Barth M., Walter M., Walter K., Meissner T., Lindner M., Ensenauer R., Santer R. et al., 2013/01. Orphanet Journal of Rare Diseases, 8 (1) p. 6.

[URN][DOI][WoS][Pmid][serval:BIB_FFEF740BDFE1]

2012

Pourquoi la connaissance des maladies rares permet des avancées thérapeutiques [Why does knowledge on rare diseases allow progress in treatments?].

Argiroffo C.B., Superti-Furga A., 2012/02. Revue Médicale Suisse, 8 (329) pp. 395-396.

[Pmid][serval:BIB_B074E9CE1040]

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum.

Graziano C., David M., Magini P., Superti-Furga A., Seri M., 2012. American Journal of Medical Genetics. Part A, 158A (12) pp. 3211-3213.

[DOI][WoS][Pmid][serval:BIB_4E695D65DB45]

Enchondromatosis revisited: New classification with molecular basis.

Superti-Furga A., Spranger J., Nishimura G., 2012. American Journal of Medical Genetics. Part C, Seminars In Medical Genetics, 160 (3) pp. 154-164.

[DOI][WoS][Pmid][serval:BIB_D6CF217F8C81]

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Mendoza-Londono R., Chitayat D., Kahr W.H., Hinek A., Blaser S., Dupuis L., Goh E., Badilla-Porras R., Howard A., Mittaz L. et al., 2012. American Journal of Medical Genetics. Part A, 158A (6) pp. 1344-1354.

[DOI][WoS][Pmid][serval:BIB_24D53E9B6808]

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Mayr J.A., Haack T.B., Graf E., Zimmermann F.A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M.R. et al., 2012. American Journal of Human Genetics, 90 (2) pp. 314-320.

[DOI][WoS][Pmid][serval:BIB_8EF3EE6678B4]

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.

Choo H.J., Cho T.J., Song J., Tiller G.E., Lee S.H., Park G., Lee I.S., Lachman R., Superti-Furga A., Kim O.H., 2012. Skeletal Radiology, 41 (11) pp. 1479-1487.

[DOI][WoS][Pmid][serval:BIB_63CE7E74D072]

Mutation analysis in 54 propionic acidemia patients.

Kraus J.P., Spector E., Venezia S., Estes P., Chiang P.W., Creadon-Swindell G., Müllerleile S., de Silva L., Barth M., Walter M. et al., 2012/01. Journal of Inherited Metabolic Disease, 35 (1) pp. 51-63.

[DOI][WoS][Pmid][serval:BIB_7C0241EE84ED]

New topics in the skeletal dysplasias.

Unger S., Bonafé L., Superti-Furga A., 2012. American Journal of Medical Genetics. Part C, Seminars In Medical Genetics, 160C (3) pp. 143-144.

[DOI][WoS][Pmid][serval:BIB_08824E1A42B8]

Propionic acidemia: neonatal versus selective metabolic screening.

Grünert S.C., Müllerleile S., de Silva L., Barth M., Walter M., Walter K., Meissner T., Lindner M., Ensenauer R., Santer R. et al., 2012/01. Journal of Inherited Metabolic Disease, 35 (1) pp. 41-49.

[DOI][WoS][Pmid][serval:BIB_264A23CC0719]

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

Diggle C.P., Parry D.A., Logan C.V., Laissue P., Rivera C., Restrepo C.M., Fonseca D.J., Morgan J.E., Allanore Y., Fontenay M. et al., 2012. Human Mutation, 33 (8) pp. 1175-1181.

[DOI][WoS][Pmid][serval:BIB_211F91A7C26D]

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson G.C., Mittaz-Crettol L., Taylor J.A., Mortier G.R., Spranger J., Zabel B., Le Merrer M., Cormier-Daire V., Hall C.M., Offiah A. et al., 2012. Human Mutation, 33 (1) pp. 144-157.

[URN][DOI][WoS][Pmid][serval:BIB_FDC8AEBBF369]

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Simon M., Campos-Xavier A.B., Mittaz-Crettol L., Valadares E.R., Carvalho D., Speck-Martins C.E., Nampoothiri S., Alanay Y., Mihci E., van Bever Y. et al., 2012. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160 (3) pp. 230-237.

[DOI][WoS][Pmid][serval:BIB_9A17C1FD845D]

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

Garavelli L., Gargano G., Simonte G., Rosato S., Wischmeijer A., Melli N., Braibanti S., Gelmini C., Forzano F., Pietrobono R. et al., 2012. American Journal of Medical Genetics. Part A, 158A (9) pp. 2245-2249. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_AF8602BBCB9F]

SOMATIC MUTATIONS IN THE KREBS CYCLE ENZYME ISOCITRATE DEHYDROGENASE 1 (IDH1) CAUSE METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Bonafe L., Vissers L. E. L. M., Dionisi-Vici C., Martinelli D., Barbuti D., Fano V, Sass J. O., Ballhausen D., Suarez P., Campos-Xavier A. B. et al., 2012. pp. S143 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.

[WoS][serval:BIB_ADE4A4BE7822]

The dark sides of capillary morphogenesis gene 2.

Deuquet J., Lausch E., Superti-Furga A., van der Goot F.G., 2012. EMBO Journal, 31 (1) pp. 3-13.

[DOI][WoS][Pmid][serval:BIB_7FEA0CA3B656]

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Garcia Segarra N., Mittaz L., Campos-Xavier A.B., Bartels C.F., Tuysuz B., Alanay Y., Cimaz R., Cormier-Daire V., Di Rocco M., Duba H.C. et al., 2012. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160 (3) pp. 217-229.

[DOI][WoS][Pmid][serval:BIB_FEEB9785A014]

TRIP11 controls ciliary signalling pathways in chondrogenesis

Schmidts Miriam, Wehrle Anika, Follit John A, Loges Niki, Superti-Furga Andrea, Zabel Bernhard, Pazour Gregory J, Lausch Ekkehart, 2012. p. 1427 dans 48th Workshop of Pediatric Research, European Journal of Pediatrics.

[WoS][serval:BIB_B465E88791A9]

TRPV4-associated skeletal dysplasias.

Nishimura G., Lausch E., Savarirayan R., Shiba M., Spranger J., Zabel B., Ikegawa S., Superti-Furga A., Unger S., 2012. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160 (3) pp. 190-204.

[DOI][WoS][Pmid][serval:BIB_54EF1FB63B79]

2011

Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.

Garavelli L., Wischmeijer A., Rosato S., Gelmini C., Reverberi S., Sassi S., Ferrari A., Mari F., Zabel B., Lausch E. et al., 2011. American Journal of Medical Genetics. Part A, 155 (2) pp. 332-336.

[DOI][WoS][Pmid][serval:BIB_194EA325CA25]

Axial spondylometaphyseal dysplasia: Additional reports.

Suzuki S., Kim O.H., Makita Y., Saito T., Lim G.Y., Cho T.J., Al-Swaid A., Alrasheed S., Sadoon E., Miyazaki O. et al., 2011. American Journal of Medical Genetics. Part A, 155 (10) pp. 2521-2528.

[DOI][WoS][Pmid][serval:BIB_D07010E429A3]

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Furuichi T., Dai J., Cho T.J., Sakazume S., Ikema M., Matsui Y., Baynam G., Nagai T., Miyake N., Matsumoto N. et al., 2011. Journal of Medical Genetics, 48 (1) pp. 32-37.

[DOI][WoS][Pmid][serval:BIB_CF22BCC2EDC8]

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP.

Vissers L.E., Lausch E., Unger S., Campos-Xavier A.B., Gilissen C., Rossi A., Del Rosario M., Venselaar H., Knoll U., Nampoothiri S. et al., 2011. American Journal of Human Genetics, 88 (5) pp. 608-615.

[DOI][WoS][Pmid][serval:BIB_0ADE405CADD3]

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.

Cranenburg E.C., VAN Spaendonck-Zwarts K.Y., Bonafe L., Mittaz Crettol L., Rödiger L.A., Dikkers F.G., VAN Essen A.J., Superti-Furga A., Alexandrakis E., Vermeer C. et al., 2011. Journal of Thrombosis and Haemostasis, 9 (6) pp. 1225-1235. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_7E02ECE0C9DE]

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Barbosa M., Sousa A.B., Medeira A., Lourenço T., Saraiva J., Pinto-Basto J., Soares G., Fortuna A.M., Superti-Furga A., Mittaz L. et al., 2011. Clinical Genetics, 80 (6) pp. 550-557.

[DOI][WoS][Pmid][serval:BIB_A025D3CC7A3A]

Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.

Bartsch I., Sandrock K., Lanza F., Nurden P., Hainmann I., Pavlova A., Greinacher A., Tacke U., Barth M., Busse A. et al., 2011. Thrombosis and Haemostasis, 106 (3) pp. 475-483.

[DOI][WoS][Pmid][serval:BIB_B070AB6BC615]

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Unger S., Lausch E., Stanzial F., Gillessen-Kaesbach G., Stefanova I., Di Stefano C.M., Bertini E., Dionisi-Vici C., Nilius B., Zabel B. et al., 2011. American Journal of Medical Genetics. Part A, 155A (11) pp. 2860-2864.

[DOI][WoS][Pmid][serval:BIB_B8559E835001]

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Lausch E., Janecke A., Bros M., Trojandt S., Alanay Y., De Laet C., Hübner C.A., Meinecke P., Nishimura G., Matsuo M. et al., 2011. Nature Genetics, 43 (2) pp. 132-137.

[DOI][WoS][Pmid][serval:BIB_8559E4EB9D44]

Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.

Deuquet J., Lausch E., Guex N., Abrami L., Salvi S., Lakkaraju A., Ramirez M.C., Martignetti J.A., Rokicki D., Bonafe L. et al., 2011. Embo Molecular Medicine, 3 (4) pp. 208-221.

[URN][DOI][WoS][Pmid][serval:BIB_27DB154B3E2F]

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease.

Grünert S.C., Fowler B., Superti-Furga A., Sass J.O., Schwab K.O., 2011. Brain and Development, 33 (5) pp. 432-436.

[DOI][WoS][Pmid][serval:BIB_D7043CDBF64F]

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim S.J., Bieganski T., Sohn Y.B., Kozlowski K., Semënov M., Okamoto N., Kim C.H., Ko A.R., Ahn G.H., Choi Y.L. et al., 2011. Human Genetics, 129 (5) pp. 497-502.

[DOI][WoS][Pmid][serval:BIB_E8F9A93DE61A]

Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl

Chung BHY, Lausch E, Superti-Furga A, 2011/01/01. Pediatrics and Adolescent Medicine: Conference Papers.

[serval:BIB_EAAB911C6FCD]

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger J., van Beusekom E., Ramsay J.K., McKie L., Al-Gazali L., Pallotta R., Saponari A., Branney P., Fisher M., Morrison H. et al., 2011. Plos Genetics, 7 (7) pp. e1002114.

[URN][DOI][WoS][Pmid][serval:BIB_800B2A781299]

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.

Bowen M.E., Boyden E.D., Holm I.A., Campos-Xavier B., Bonafé L., Superti-Furga A., Ikegawa S., Cormier-Daire V., Bovée J.V., Pansuriya T.C. et al., 2011. Plos Genetics, 7 (4) pp. e1002050.

[URN][DOI][WoS][Pmid][serval:BIB_68EE199D6F27]

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., Alanay Y., Brady A.F., Crow Y.J., Devriendt K. et al., 2011. Journal of Medical Genetics, 48 (6) pp. 417-421.

[URN][DOI][WoS][Pmid][serval:BIB_6DC3213D3803]

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley B.P., Malfait F., Bonafe L., Baldridge D., Homan E., Symoens S., Willaert A., Elcioglu N., Van Maldergem L., Verellen-Dumoulin C. et al., 2011. Journal of Bone and Mineral Research, 26 (3) pp. 666-672.

[URN][DOI][WoS][Pmid][serval:BIB_3D896E8B0DD0]

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff C., Mahaut C., Wang L.W., Allali S., Abhyankar A., Jensen S., Zylberberg L., Collod-Beroud G., Bonnet D., Alanay Y. et al., 2011. American Journal of Human Genetics, 89 (1) pp. 7-14.

[DOI][WoS][Pmid][serval:BIB_EF79CDE28FD1]

Nosology and classification of genetic skeletal disorders: 2010 revision.

Warman M.L., Cormier-Daire V., Hall C., Krakow D., Lachman R., Lemerrer M., Mortier G., Mundlos S., Nishimura G., Rimoin D.L. et al., 2011. American Journal of Medical Genetics. Part A, 155 (5) pp. 943-968.

[URN][DOI][WoS][Pmid][serval:BIB_31F9B1D3B25E]

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Bedeschi M.F., Bianchi V., Gentilin B., Colombo L., Natacci F., Giglio S., Andreucci E., Trespidi L., Acaia B., Furga A.S. et al., 2011. Orphanet Journal of Rare Diseases, 6 (1) p. 7.

[URN][DOI][WoS][Pmid][serval:BIB_119CBCBE88E7]

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Boyden E.D., Campos-Xavier A.B., Kalamajski S., Cameron T.L., Suarez P., Tanackovich G., Andria G., Ballhausen D., Briggs M.D., Hartley C. et al., 2011. American Journal of Human Genetics, 89 (6) pp. 767-772.

[DOI][WoS][Pmid][serval:BIB_72DCC2F48944]

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Kim O.H., Park H., Seong M.W., Cho T.J., Nishimura G., Superti-Furga A., Unger S., Ikegawa S., Choi I.H., Song H.R. et al., 2011. American Journal of Medical Genetics. Part A, 155A (11) pp. 2669-2680.

[DOI][WoS][Pmid][serval:BIB_F1A003D5A500]

Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases

Bilginer Yelda, Alanay Yasemin, Duezova Ali, Topaloglu Rezan, Superti-Furga Andrea, Oezen Seza, Oezaltin Fatih, Besbas Nesrin, 2011., Valencia, Spain, 9-12 September 2010 p. 430 dans 17th Pediatric Rheumatology European Society Congress, Clinical and experimental rheumatology.

[WoS][serval:BIB_ABFC9357B89E]

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

Vissers L.E., Fano V., Martinelli D., Campos-Xavier B., Barbuti D., Cho T.J., Dursun A., Kim O.H., Lee S.H., Timpani G. et al., 2011. American Journal of Medical Genetics. Part A, 155A (11) pp. 2609-2616.

[DOI][WoS][Pmid][serval:BIB_9083E4FDD020]

2010

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Smits P., Bolton A.D., Funari V., Hong M., Boyden E.D., Lu L., Manning D.K., Dwyer N.D., Moran J.L., Prysak M. et al., 2010/01/21. The New England journal of medicine, 362 (3) pp. 206-216. Peer-reviewed.

[URN][DOI][WoS][Pmid][serval:BIB_553E9AB0C92F]

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

Cho T.J., Kim O.H., Choi I.H., Nishimura G., Superti-Furga A., Kim K.S., Lee Y.J., Park W.Y., 2010. Journal of Medical Genetics, 47 (9) pp. 638-639.

[DOI][WoS][Pmid][serval:BIB_136981E9264A]

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Kim O.H., Nishimura G., Song H.R., Matsui Y., Sakazume S., Yamada M., Narumi Y., Alanay Y., Unger S., Cho T.J. et al., 2010. American Journal of Medical Genetics. Part A, 152A (4) pp. 875-885.

[DOI][WoS][Pmid][serval:BIB_DDD00FDCF40D]

Current themes in molecular pediatrics: molecular medicine and its applications.

Superti-Furga A., Garavelli L., 2010. Italian Journal of Pediatrics, 36 p. 20.

[DOI][Pmid][serval:BIB_AFEDCF5DA5B5]

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling.

Gualeni B., Facchini M., De Leonardis F., Tenni R., Cetta G., Viola M., Passi A., Superti-Furga A., Forlino A., Rossi A., 2010. Matrix Biology, 29 (6) pp. 453-460.

[DOI][WoS][Pmid][serval:BIB_5B6C27E4EE75]

Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.

Walter K.N., Kienzle F.B., Frankenschmidt A., Hiort O., Wudy S.A., van der Werf-Grohmann N., Superti-Furga A., Schwab K.O., 2010. Hormone Research In Pædiatrics, 74 (1) pp. 67-71.

[DOI][WoS][Pmid][serval:BIB_97AA7DB24E5D]

Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

Horn J., Schlesier M., Warnatz K., Prasse A., Superti-Furga A., Peter H.H., Salzer U., 2010. Human Immunology, 71 (9) pp. 916-919.

[DOI][WoS][Pmid][serval:BIB_8C87A3B137E0]

Genetic skeletal dysplasias: Cell biology and molecular bases

Superti-Furga A., Unger S., 2010. Endocrine Journal, 57 (Suppl. 2) pp. S247. Peer-reviewed.

[WoS][serval:BIB_C8FD404E9003]

Multiple Epiphyseal Dysplasia, Recessive.

Bonafé L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., 2010. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews, University of Washington.

[Pmid][serval:BIB_C445A08A94F5]

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., Alikasifoglu M., Tuncbilek E., Orhan D., Bakar F.T. et al., 2010. American Journal of Human Genetics, 86 (4) pp. 551-559.

[DOI][WoS][Pmid][serval:BIB_FCB3529F5669]

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J., Kim O.H., Cho T.J., Schmidt-Rimpler M., Tonoki H., Takikawa K., Haga N., Miyoshi K., Kitoh H., Yoo W.J. et al., 2010. Journal of Medical Genetics, 47 (10) pp. 704-709.

[DOI][WoS][Pmid][serval:BIB_0580C5AAEB36]

Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.

Vannier C., Behnisch W., Bartsch I., Sandrock K., Ertle F., Schmidt K., Busse A., Superti-Furga A., Kulozik A., Santoso S. et al., 2010. Klinische Pädiatrie, 222 (3) pp. 150-153.

[DOI][WoS][Pmid][serval:BIB_2167632B972A]

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

Rieubland C., Jacquemont S., Mittaz L., Osterheld M.C., Vial Y., Superti-Furga A., Unger S., Bonafé L., 2010. European Journal of Medical Genetics, 53 (5) pp. 294-298. Peer-reviewed.

[DOI][WoS][Pmid][serval:BIB_E21E9F6AF726]

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S., Lausch E., Rossi A., Mégarbané A., Sillence D., Alcausin M., Aytes A., Mendoza-Londono R., Nampoothiri S., Afroze B. et al., 2010. American Journal of Medical Genetics. Part A, 152A (10) pp. 2543-2549.

[DOI][WoS][Pmid][serval:BIB_227B972EE220]

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Hinrichs Timo, Superti-Furga Andrea, Scheiderer Wolf-Dieter, Bonafé Luisa, Brenner Rolf E., Mattes Thomas, 2010. BMC Musculoskeletal Disorders, 11 p. 110.

[URN][DOI][WoS][Pmid][serval:BIB_654896346C0E]

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

Nishimura G., Dai J., Lausch E., Unger S., Megarbané A., Kitoh H., Kim O.H., Cho T.J., Bedeschi F., Benedicenti F. et al., 2010. American Journal of Medical Genetics. Part A, 152A (6) pp. 1443-1449.

[DOI][WoS][Pmid][serval:BIB_2728B0DA55CA]

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

Jung C., Dagoneau N., Baujat G., Le Merrer M., David A., Di Rocco M., Hamel B., Mégarbané A., Superti-Furga A., Unger S. et al., 2010. Clinical Genetics, 77 (3) pp. 266-272.

[DOI][WoS][Pmid][serval:BIB_2B7FF34737C7]

TRPV4-pathy, a novel channelopathy affecting diverse systems.

Dai J., Cho T.J., Unger S., Lausch E., Nishimura G., Kim O.H., Superti-Furga A., Ikegawa S., 2010. Journal of Human Genetics, 55 (7) pp. 400-402.

[DOI][WoS][Pmid][serval:BIB_478C598756CA]

Tyrosinemia type I - a rare differential diagnosis of acute liver failure in infancy. [Tyrosinämie Typ I - eine seltene Differenzialdiagnose des akuten Leberversagens im Säuglingsalter]

Gruenert S., Fernando M., Sass J. O., Schwab K.O., Kartal M., Pohl M., Woltering T., Hentschel R., Superti-Furga A., Greiner P., 2010. Klinische Pädiatrie, 222 (Suppl. 1) pp. S39. Peer-reviewed.

[DOI][WoS][serval:BIB_CBB79721130E]

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