Sheila Unger

Publications | Mémoires et thèses

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147 publications

2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1993 |
2023
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]
 
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M., Pehlivan D., Suñer D.H., Weiss K., Coste T., Zweier M., Oktay Y., Danial-Farran N., Rosti V., Bonasoni M.P. et al., 2023/04/06. American journal of human genetics, 110 (4) pp. 681-690. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_261A60E3FC55]
2022
Diagnostic génétique moléculaire des enfants implantés cochléaires en Suisse romande [Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland]
Fries S., Unger S., Cina V., Strom A., Paoloni-Giacobino A., Simon C., Senn P., Cao Van H., 2022/10/05. Revue medicale suisse, 18 (798) pp. 1855-1859. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_8045358AE7CC]
Syndrome des télomères courts chez l’adulte : une entité rare qu’il faut savoir évoquer [Short telomere syndrome in adults: a rare entity that should be evoked]
Coukos A., Daccord C., Lazor R., Blum S., Naveiras O., Unger S., Vionnet J., Gaide O., Koutsokera A., Moschouri E. et al., 2022/08/31. Revue medicale suisse, 18 (793) pp. 1606-1613. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_610156412D48]
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]
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]
2021
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer.
Stoll S., Unger S., Azzarello-Burri S., Chappuis P., Graffeo R., Pichert G., Röthlisberger B., Taban F., Riniker S., 2021/09/13. Swiss medical weekly, 151 pp. w30038. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_89048E00F77D]
 
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]
 
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]
 
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]
2020
 
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]
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life.
Aubry-Rozier B., Richard C., Unger S., Hans D., Campos-Xavier B., Schneider P., Paquier C., Pasche J., Bonafé L., Bregou A., 2020/06/28. Swiss medical weekly, 150 pp. w20285. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A330A444E1E9]
Combined Lung and Liver Transplantation for Short Telomere Syndrome.
Moschouri E., Vionnet J., Giostra E., Daccord C., Lazor R., Sciarra A., Letovanec I., Sempoux C., Gonzalez M., Unger S. et al., 2020/06. Liver transplantation, 26 (6) pp. 840-844. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_67847DD9BC0A]
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D., Carvalho D., Barbaro-Dieber T., Espay A.J., Gambello M.J., Gener B., Gerkes E., Hitzert M.M., Hove H.B., Jansen S. et al., 2020/06. Clinical genetics, 97 (6) pp. 890-901. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_2E4B9C181A07]
 
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]
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]
 
Is height important for quality of life in children with skeletal dysplasias?
Lorne H., Newman C.J., Unger S., 2020/04. European journal of medical genetics, 63 (4) p. 103816. Peer-reviewed.
[DOI][Pmid][serval:BIB_217CDD2DB009]
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]
Votre analyse : avec ou sans conseil génétique ? []
Met-Domestici M., Unger S., 2020/02/19. Revue medicale suisse, 16 (682) pp. 374-376. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_B7DD92A02EC4]
 
Physicians communicating with women at genetic risk of breast and ovarian cancer: Are we in the middle of the ford between contradictory messages and unshared decision making?
Fadda M., Chappuis P.O., Katapodi M.C., Pagani O., Monnerat C., Membrez V., Unger S., Caiata Zufferey M., 2020. PloS one, 15 (10) pp. e0240054. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_491D68830C89]
2019
 
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]
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]
ABC des polypes coliques [Abecedary of colonic polyps]
Archanioti P., Bornand A., Sempoux C., Unger S., Schoepfer A., Robert M., David G., 2019/08/28. Revue medicale suisse, 15 (660) pp. 1483-1487. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_FF16EF63063D]
Syndrome d’Alagille [Alagille Syndrome]
Wakim El-Khoury J., Venetz J.P., Rutz T., Sciarra A., Unger S., Sempoux C., Moradpour D., Fraga M., 2019/08/28. Revue medicale suisse, 15 (660) pp. 1506-1510. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_ABC011209ABD]
 
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]
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]
 
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
 
Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Vanlerberghe C., Jourdain A.S., Dieux A., Toutain A., Callewaert B., Dupuis-Girod S., Unger S., Wright M., Isidor B., Ghoumid J. et al., 2017/12. Clinical genetics, 92 (6) pp. 676-678. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1DB03E837D37]
 
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]
 
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]
Current Care and Investigational Therapies in Achondroplasia.
Unger S., Bonafé L., Gouze E., 2017/04. Current osteoporosis reports, 15 (2) pp. 53-60. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B81633D6A27B]
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]
 
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
 
Médecine génomique : les enjeux de l’information en pratique clinique [Genomic medicine : the challenges of information in clinical practice]
Guessous I., Mooser V., Fellay J., Bochud M., Simeoni U., Unger S., Waeber G., Cornuz J., 2016/11/02. Revue medicale suisse, 12 (537) pp. 1838-1844. Peer-reviewed.
[Pmid][serval:BIB_68ED499361E8]
 
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]
 
Sojourner in a foreign land.
Unger S., 2016/10. American journal of medical genetics. Part A, 170 (10) pp. 2594-2595. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_537E273F272E]
 
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]
 
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
 
Nouveautés dans l'ostéogenèse imparfaite: de la recherche à la prise en charge multidisciplinaire [News in osteogenesis imperfecta: from research to clinical management]
Aubry-Rozier B., Unger S., Bregou A., Freymond Morisod M., Vaswani A., Scheider P., Bonafé L., 2015/03/18. Revue medicale suisse, 11 (466) pp. 657-658,660-662.
[Pmid][serval:BIB_EE63C48C6156]
 
Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations.
Caiata-Zufferey M., Pagani O., Cina V., Membrez V., Taborelli M., Unger S., Murphy A., Monnerat C., Chappuis P.O., 2015. Genetics In Medicine : Official Journal of the American College of Medical Genetics, 17 (9) pp. 726-732. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0A2191D079D8]
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T., Perveen R., Schlecht H., Ramsden S., Anderson B., Kerr B., Day R., Banka S., Suri M., Berland S. et al., 2015. European Journal of Human Genetics : Ejhg, 23 (9) pp. 1165-1170. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_52ADD198F52A]
 
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]
 
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]
2014
 
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]
 
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
 
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below J.E., Earl D.L., Shively K.M., McMillin M.J., Smith J.D., Turner E.H., Stephan M.J., Al-Gazali L.I., Hertecant J.L., Chitayat D. et al., 2013/12. American Journal of Human Genetics, 92 (1) pp. 137-143. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DAC223FFD7BD]
 
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]
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B., Su C.T., Van Damme T., Vlummens P., Malfait F., Vanakker O., Schulz B., Mac Neal M., Davis E.C., Lee J.G. et al., 2013. Human Mutation, 34 (1) pp. 111-121.
[URN][DOI][WoS][Pmid][serval:BIB_29E186913C08]
 
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.
Ladhani N.N., Chitayat D., Nezarati M.M., Laureane M.C., Keating S., Silver R.J., Unger S., Velsher L., Sirkin W., Toi A. et al., 2013. Prenatal Diagnosis, 33 (11) pp. 1039-1043.
[DOI][WoS][Pmid][serval:BIB_4A0CEC20AB54]
 
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]
 
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]
2012
 
Clinical and radiological findings in Pallister-Killian syndrome.
Jamuar S., Lai A., Unger S., Nishimura G., 2012. European Journal of Medical Genetics, 55 (3) pp. 167-172.
[DOI][WoS][Pmid][serval:BIB_EB71048AA46F]
 
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]
 
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]
 
Nouvelles thérapies pour les maladies osseuses de l'enfant [New therapies for children affected by bone diseases].
Ballhausen D., Dépraz N.G., Kern I., Unger S., Bonafé L., 2012. Revue Médicale Suisse, 8 (329) pp. 398-402.
[Pmid][serval:BIB_7253090BCD83]
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]
 
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 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]
 
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
 
A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.
Jakob A., Unger S., Arnold R., Grohmann J., Kraus C., Schlensak C., Stiller B., 2011. Cardiology in the Young, 21 (1) pp. 62-65. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_706F42E8E879]
 
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]
 
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]
 
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]
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 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]
 
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]
 
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
 
A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.
Sendi-Naderi A., Lüdecke H.J., Unger S., Kern J.S., Wolff G., Bruckner-Tuderman L., Nashan D., 2010. Journal of the European Academy of Dermatology and Venereology : Jeadv, 24 (5) pp. 612-614. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D7C8CEA018A1]
 
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]
 
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]
 
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]
 
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]
2009
 
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
Kim O.H., Cho T.J., Song H.R., Chung C.Y., Miyagawa S., Nishimura G., Superti-Furga A., Unger S., 2009. Skeletal Radiology, 38 (8) pp. 803-811.
[DOI][WoS][Pmid][serval:BIB_6F86186DD03C]
 
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C., Delezoide A.L., Guimiot F., Baumann C., Malan V., Le Merrer M., Da Silva D.B., Bonneau D., Chatelain P., Chu C. et al., 2009. European Journal of Human Genetics : Ejhg, 17 (3) pp. 395-400. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3FF87FCB8FF6]
 
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Furuichi T., Kayserili H., Hiraoka S., Nishimura G., Ohashi H., Alanay Y., Lerena J.C., Aslanger A.D., Koseki H., Cohn D.H. et al., 2009. Journal of Medical Genetics, 46 (8) pp. 562-568.
[DOI][WoS][Pmid][serval:BIB_B3B520174033]
 
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
Lausch E., Keppler R., Hilbert K., Cormier-Daire V., Nikkel S., Nishimura G., Unger S., Spranger J., Superti-Furga A., Zabel B., 2009. American Journal of Human Genetics, 85 (2) pp. 168-178.
[DOI][WoS][Pmid][serval:BIB_F68A9DE136FD]
 
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxová A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al., 2009. American Journal of Human Genetics, 84 (6) pp. 760-770.
[DOI][WoS][Pmid][serval:BIB_5E5E949BD2E0]
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F., Hermanns P., Giovannucci-Uzielli M.L., Galluzzi F., Scott D., Lee B., Renieri A., Unger S., Zabel B., Superti-Furga A., 2009. European Journal of Human Genetics, 17 (9) pp. 1141-1147.
[DOI][WoS][Pmid][serval:BIB_FE324EEF2698]
2008
 
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
Unger S., Bonafé L., Superti-Furga A., 2008/03. Best Practice and Research. Clinical rheumatology, 22 (1) pp. 19-32. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5D81AAA67EEA]
 
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.
Chitayat D., Keating S., Zand D.J., Costa T., Zackai E.H., Silverman E., Tiller G., Unger S., Miller S., Kingdom J. et al., 2008. American Journal of Medical Genetics. Part A, 146A (23) pp. 3038-3053. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_06E2221F6611]
 
Clinical and radiographic delineation of odontochondrodysplasia.
Unger S., Antoniazzi F., Brugnara M., Alanay Y., Caglayan A., Lachlan K., Ikegawa S., Nishimura G., Zabel B., Spranger J. et al., 2008. American Journal of Medical Genetics. Part A, 146A (6) pp. 770-778. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5222995DE5E8]
 
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
Hermanns P., Unger S., Rossi A., Perez-Aytes A., Cortina H., Bonafe L., Boccone L., Setzu V., Dutoit M., Sangiorgi L. et al., 2008. American Journal of Human Genetics, 82 (6) pp. 1368-1374. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D4498EE45DC0]
 
Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.
Pace J.M., Wiese M., Drenguis A.S., Kuznetsova N., Leikin S., Schwarze U., Chen D., Mooney S.H., Unger S., Byers P.H., 2008. Journal of Biological Chemistry, 283 (23) pp. 16061-16067. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7DEC8AB33176]
 
Fetal MR imaging of atelosteogenesis type II (AO-II).
Miller E., Blaser S., Miller S., Keating S., Thompson M., Unger S., Toi A., Berger H., Chong K., 2008. Pediatric Radiology, 38 (12) pp. 1345-1349. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_349CB60DB21E]
 
Holt-Oram syndrome associated with anomalies of the feet.
Garavelli L., De Brasi D., Verri R., Guareschi E., Cariola F., Melis D., Calcagno G., Salvatore F., Unger S., Sebastio G. et al., 2008. American Journal of Medical Genetics. Part A, 146A (9) pp. 1185-1189.
[DOI][Pmid][serval:BIB_F2EA6A92C170]
 
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Unger S., Böhm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Böhm J., Barrionuevo F., Craig A. et al., 2008. Nature Genetics, 40 (3) pp. 287-289.
[DOI][Pmid][serval:BIB_CAD35E59F8A6]
 
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.
Lausch E., Hermanns P., Farin H.F., Alanay Y., Unger S., Nikkel S., Steinwender C., Scherer G., Spranger J., Zabel B. et al., 2008. American Journal of Human Genetics, 83 (5) pp. 649-655.
[DOI][WoS][Pmid][serval:BIB_7490303FB7A8]
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T., Civic N., Furuichi T., Shimoda S., Mishima K., Higashiyama H., Idaira Y., Asada Y., Kitamura H., Yamasaki S. et al., 2008. PLoS ONE, 3 (11) pp. e3642. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CAB4765ADCFE]
2007
 
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
Zankl A., Jackson G. C., Crettol L. M., Taylor J., Elles R., Mortier G. R., Spranger J., Zabel B., Unger S., Merrer M. L. et al., 2007/02. European Journal of Human Genetics, 15 (2) pp. 150-4. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_34DE6D1A72A6]
 
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell L.S., Farrington-Rock C., Shafeghati Y., Rump P., Alanay Y., Alembik Y., Al-Madani N., Firth H., Karimi-Nejad M.H., Kim C.A. et al., 2007. Journal of Medical Genetics, 44 (2) pp. 89-98. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D4C54F56BDA4]
 
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
Walter K., Tansek M., Tobias E.S., Ikegawa S., Coucke P., Hyland J., Mortier G., Iwaya T., Nishimura G., Superti-Furga A. et al., 2007. American Journal of Medical Genetics. Part A, 143 (2) pp. 161-167.
[DOI][WoS][Pmid][serval:BIB_3A0663CD6A53]
 
Filamin A mutation is one cause of FG syndrome.
Unger S., Mainberger A., Spitz C., Bähr A., Zeschnigk C., Zabel B., Superti-Furga A., Morris-Rosendahl D.J., 2007. American Journal of Medical Genetics. Part A, 143A (16) pp. 1876-1879.
[DOI][WoS][Pmid][serval:BIB_4DECC63BD15C]
 
Nosology and classification of genetic skeletal disorders: 2006 revision.
Superti-Furga A., Unger S., 2007. American Journal of Medical Genetics. Part A, 143 (1) pp. 1-18.
[DOI][WoS][Pmid][serval:BIB_B9FEBCB86C12]
 
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
Chitayat D., Shannon P., Keating S., Toi A., Blaser S., Friedberg T., Superti-Furga A., Chong K., Unger S., 2007. American Journal of Medical Genetics. Part A, 143A (24) pp. 3280-3285.
[DOI][WoS][Pmid][serval:BIB_3F3178F72A89]
 
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
Nishimura G., Nakashima E., Hirose Y., Cole T., Cox P., Cohn D.H., Rimoin D.L., Lachman R.S., Miyamoto Y., Kerr B. et al., 2007. Journal of Medical Genetics, 44 (4) pp. e73.
[DOI][WoS][Pmid][serval:BIB_85C3B1985AE0]
2006
 
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
Renella R., Schaefer E., LeMerrer M., Alanay Y., Kandemir N., Eich G., Costa T., Ballhausen D., Boltshauser E., Bonafe L. et al., 2006/03. American Journal of Medical Genetics. Part A, 140 (6) pp. 541-50. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2D9B0A20E958]
 
Skeletal Dysplasias: Genetics
Superti-Furga Andrea, Unger Sheila, 2006/01/27. eLS.
[DOI][serval:BIB_3C9B51617496]
 
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Borozdin W., Bravo-Ferrer Acosta A.M., Seemanova E., Leipoldt M., Bamshad M.J., Unger S., Kohlhase J., 2006. American Journal of Medical Genetics. Part A, 140A (17) pp. 1880-1886. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4835CF6B73F5]
 
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.
Martinet D., Vial Y., Thonney F., Beckmann J.S., Meagher-Villemure K., Unger S., 2006. American Journal of Medical Genetics. Part A, 140 (7) pp. 769-774. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7E905F14CAE4]
 
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
Ganesh A., Smith C., Chan W., Unger S., Quercia N., Godfrey M., Kraft S., Buncic R., Levin A., 2006. Archives of Ophthalmology, 124 (2) pp. 205-209. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3BED829AD0FE]
 
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings.
Parmar H., Blaser S., Unger S., Yoo S.J., Papsin B., 2006. Pediatric Radiology, 36 (3) pp. 241-243.
[DOI][WoS][Pmid][serval:BIB_F87C48238302]
 
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
Renella Raffaele, Schaefer Elke, LeMerrer Martine, Alanay Yasemin, Kandemir Nurgun, Eich Georg, Costa Teresa, Ballhausen Diana, Boltshauser Eugen, Bonafé Luisa et al., 2006. American Journal of Medical Genetics Part A, 140 (6) pp. 541-550.
[DOI][serval:BIB_DE90D4D024A9]
 
X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.
Umranikar S., Glanc P., Unger S., Keating S., Fong K., Trevors C.D., Myles-Reid D., Chitayat D., 2006. Prenatal Diagnosis, 26 (13) pp. 1235-1240. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3CA4813E167F]
2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L., Dermitzakis E.T., Unger S., Greenberg C.R., Campos-Xavier B.A., Zankl A., Ucla C., Antonarakis S.E., Superti-Furga A., Reymond A., 2005. Plos Genetics, 1 (4) pp. e47. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CC6ABC66BB92]
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
Unger S., Paul D.A., Nino M.C., McKay C.P., Miller S., Sochett E., Braverman N., Clarke J.T., Cole D.E., Superti-Furga A., 2005. European Journal of Pediatrics, 164 (4) pp. 236-243. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_33169]
2004
 
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N., Scheffer D., Huber C., Al-Gazali L.I., Di Rocco M., Godard A., Martinovic J., Raas-Rothschild A., Sigaudy S., Unger S. et al., 2004. American Journal of Human Genetics, 74 (2) pp. 298-305.
[DOI][WoS][Pmid][serval:BIB_33142]
2003
 
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
Cohn D.H., Ehtesham N., Krakow D., Unger S., Shanske A., Reinker K., Powell B.R., Rimoin D.L., 2003. American Journal of Human Genetics, 72 (2) pp. 419-428. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BEFECD371FBC]
 
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Ballhausen D., Bonafe L., Terhal P., Unger S. L., Bellus G., Classen M., Hamel B. C., Spranger J., Zabel B., Cohn D. H. et al., 2003/01. Journal of Medical Genetics, 40 (1) pp. 65-71. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2B32349A8D48]
2002
 
A genetic approach to the diagnosis of skeletal dysplasia.
Unger S., 2002. Clinical Orthopaedics and Related Research 401 pp. 32-38. Peer-reviewed.
[WoS][Pmid][serval:BIB_C49700CB89DC]
 
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Ehtesham N., Cantor R.M., King L.M., Reinker K., Powell B.R., Shanske A., Unger S., Rimoin D.L., Cohn D.H., 2002. American Journal of Human Genetics, 71 (4) pp. 947-951. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_131F01B2101D]
 
Severe cleidocranial dysplasia can mimic hypophosphatasia.
Unger S., Mornet E., Mundlos S., Blaser S., Cole D.E., 2002. European Journal of Pediatrics, 161 (11) pp. 623-626. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1E13289F0299]
2001
 
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias.
Cormier-Daire V., Savarirayan R., Unger S., Rimoin D.L., Lachman R.S., 2001. Pediatric Radiology, 31 (1) pp. 38-42. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_96C9E20255EF]
 
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
Unger S., Korkko J., Krakow D., Lachman R.S., Rimoin D.L., Cohn D.H., 2001. American Journal of Medical Genetics, 104 (2) pp. 140-146.
[WoS][Pmid][serval:BIB_D1A9A84D34FA]
 
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
Unger S.L., Briggs M.D., Holden P., Zabel B., Ala-Kokko L., Paassilta P., Lohiniva J., Rimoin D.L., Lachman R.S., Cohn D.H., 2001. Pediatric Radiology, 31 (1) pp. 10-18. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3CEE1B771650]
 
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.
Unger S., Le Merrer M., Meinecke P., Chitayat D., Rossi A., Superti-Furga A., 2001. Pediatric Radiology, 31 (12) pp. 893-894.
[DOI][Pmid][serval:BIB_3E260DB04F80]
 
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Unger S., Hecht J.T., 2001. American Journal of Medical Genetics, 106 (4) pp. 244-250.
[WoS][Pmid][serval:BIB_0B945EA0F5C1]
2000
 
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.
Savarirayan R., Cormier-Daire V., Unger S., Lachman R.S., Roughley P.J., Wagner S.F., Rimoin D.L., Wilcox W.R., 2000. American Journal of Medical Genetics, 95 (3) pp. 193-200. Peer-reviewed.
[WoS][Pmid][serval:BIB_3E5BA97B8749]
1999
 
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.
Patel M.S., Callahan J.W., Zhang S., Chan A.K., Unger S., Levin A.V., Skomorowski M.A., Feigenbaum A.S., O'Brien K., Hellmann J. et al., 1999. American Journal of Medical Genetics, 85 (1) pp. 38-47. Peer-reviewed.
[WoS][Pmid][serval:BIB_1B3CC0296EA0]
1998
 
Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.
Harrison K.J., Teshima I.E., Silver M.M., Jay V., Unger S., Robinson W.P., James A., Levin A., Chitayat D., 1998. American Journal of Medical Genetics, 79 (2) pp. 103-107.
[WoS][Pmid][serval:BIB_99431F2510D9]
1993
 
SLC26A2-Related Atelosteogenesis
Superti-Furga A., Unger S., 1993. dans Adam M. P., Mirzaa G. M., Pagon R. A., Wallace S. E., Bean L. J. H., Gripp K. W., Amemiya A. (eds.) GeneReviews(®), University of Washington, Seattle Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved..
[Pmid][serval:BIB_8D22EF16E169]
 
SLC26A2-Related Multiple Epiphyseal Dysplasia
Unger S., Superti-Furga A., 1993. dans Adam M. P., Mirzaa G. M., Pagon R. A., Wallace S. E., Bean L. J. H., Gripp K. W., Amemiya A. (eds.) GeneReviews(®), University of Washington, Seattle Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved..
[Pmid][serval:BIB_75E72C8F6226]
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