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119 publications

2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 |
 
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin Y., Sidky S., Abdenur J., Anastasi A., Ballhausen D., Buoni S., Chan A., Cheillan D., Dorison N., Goldenberg A. et al., 2018/05. European journal of paediatric neurology, 22 (3) pp. 369-379. Peer-reviewed.
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling.
Capurro M., Izumikawa T., Suarez P., Shi W., Cydzik M., Kaneiwa T., Gariepy J., Bonafe L., Filmus J., 2017/09/04. The Journal of cell biology, 216 (9) pp. 2911-2926. Peer-reviewed.
 
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L., Scherer G., Curbelo-Estévez M.L., Jiménez-Acosta F., Hartmann B., La Roche F., Meavilla-Olivas S., Pérez-Cerdá C., García-Segarra N., Giguère Y. et al., 2017/09. Clinical genetics, 92 (3) pp. 306-317. Peer-reviewed.
 
Epidemiology of mucopolysaccharidoses.
Khan S.A., Peracha H., Ballhausen D., Wiesbauer A., Rohrbach M., Gautschi M., Mason R.W., Giugliani R., Suzuki Y., Orii K.E. et al., 2017/07. Molecular genetics and metabolism, 121 (3) pp. 227-240. Peer-reviewed.
 
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.
Tran C., Patel J., Stacy H., Mamak E.G., Faghfoury H., Raiman J., Clarke JTR, Blaser S., Mercimek-Mahmutoglu S., 2017/07. European journal of paediatric neurology, 21 (4) pp. 600-609. Peer-reviewed.
 
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S., Biela-Banaś A., Burda P., Ballhausen D., Higaki K., Caciotti A., Morrone A., Charollais-Thoenig J., Gallienne E., Demotz S. et al., 2017/04/27. European journal of medicinal chemistry, 126 pp. 160-170. Peer-reviewed.
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.
 
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.
 
Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues.
Braissant O., Jafari P., Remacle N., Cudré-Cung H.P., Do Vale Pereira S., Ballhausen D., 2017/02/20. Neuroscience, 343 pp. 355-363. Peer-reviewed.
 
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N., Mühlhausen C., Maier E.M., Heringer J., Assmann B., Burgard P., Dixon M., Fleissner S., Greenberg C.R., Harting I. et al., 2017/01. Journal of inherited metabolic disease, 40 (1) pp. 75-101.
 
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.
Tran C., Barbey F., Lazor R., Bonafé L., 2017. Respiration; international review of thoracic diseases, 94 (1) pp. 2-13. Peer-reviewed.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N., Haer-Wigman L., Vaclavik V., Tran V.H., Farinelli P., Balzano S., Royer-Bertrand B., El-Asrag M.E., Bonny O., Ikonomidis C. et al., 2016/10/15. Human molecular genetics, 25 (20) pp. 4546-4555. Peer-reviewed.
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.
Cudré-Cung H.P., Zavadakova P., do Vale-Pereira S., Remacle N., Henry H., Ivanisevic J., Tavel D., Braissant O., Ballhausen D., 2016/09. Molecular genetics and metabolism, 119 (1-2) pp. 57-67. Peer-reviewed.
Fabry in the older patient: Clinical consequences and possibilities for treatment.
Lidove O., Barbey F., Niu D.M., Brand E., Nicholls K., Bizjajeva S., Hughes D.A., 2016/08. Molecular genetics and metabolism, 118 (4) pp. 319-325. Peer-reviewed.
 
MRI and (1)H-MRS in adenosine kinase deficiency.
Staufner C., Blom H.J., Dionisi-Vici C., Freisinger P., Makhseed N., Ballhausen D., Kölker S., Hoffmann G.F., Harting I., 2016/07. Neuroradiology, 58 (7) pp. 697-703. Peer-reviewed.
 
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Jackson C.B., Bauer M.F., Schaller A., Kotzaeridou U., Ferrarini A., Hahn D., Chehade H., Barbey F., Tran C., Gallati S. et al., 2016/04. European journal of pediatrics, 175 (4) pp. 517-525. Peer-reviewed.
 
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C., Lindner M., Dionisi-Vici C., Freisinger P., Dobbelaere D., Douillard C., Makhseed N., Straub B.K., Kahrizi K., Ballhausen D. et al., 2016. Journal of Inherited Metabolic Disease, 39 (2) pp. 273-283. Peer-reviewed.
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.
 
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.
 
Mutation in MMP2 gene may result in scleroderma-like skin thickening.
Bader-Meunier B., Bonafé L., Fraitag S., Breton S., Bodemer C., Baujat G., 2016. Annals of the Rheumatic Diseases, 75 (1) pp. e1. Peer-reviewed.
 
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.
Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
Bregou Bourgeois A., Aubry-Rozier B., Bonafé L., Laurent-Applegate L., Pioletti D.P., Zambelli P.Y., 2016. Swiss medical weekly, 146 pp. w14322. Peer-reviewed.
 
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE.
Tüysüz B., Cinar B., Laçiner S., Onay H., Mittaz-Crettol L., 2015. Genetic Counseling, 26 (2) pp. 187-194. Peer-reviewed.
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.
 
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.
 
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.
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
Lindert U., Kraenzlin M., Campos-Xavier A.B., Baumgartner M.R., Bonafé L., Giunta C., Rohrbach M., 2015. Orphanet Journal of Rare Diseases, 10 (1) p. 104. Peer-reviewed.
 
Carnitine deficiency in chronic critical illness.
Bonafé L., Berger M.M., Que Y.A., Mechanick J.I., 2014. Current Opinion in Clinical Nutrition and Metabolic Care, 17 (2) pp. 200-209. Peer-reviewed.
 
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Fischer S., Huemer M., Baumgartner M., Deodato F., Ballhausen D., Boneh A., Burlina A.B., Cerone R., Garcia P., Gökçay G. et al., 2014. Journal of Inherited Metabolic Disease, 37 (5) pp. 831-840. Peer-reviewed.
 
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
García Segarra N., Gautschi I., Mittaz-Crettol L., Kallay Zetchi C., Al-Qusairi L., Van Bemmelen M.X., Maeder P., Bonafé L., Schild L., Roulet-Perez E., 2014. Journal of the Neurological Sciences, 342 (1-2) pp. 69-78. Peer-reviewed.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Rüegger C.M., Lindner M., Ballhausen D., Baumgartner M.R., Beblo S., Das A., Gautschi M., Glahn E.M., Grünert S.C., Hennermann J. et al., 2014. Journal of Inherited Metabolic Disease, 37 (1) pp. 21-30.
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Abela L., Plecko B., Palla A., Burda P., Nuoffer J.M., Ballhausen D., Rohrbach M., 2014. Orphanet Journal of Rare Diseases, 9 (1) p. 176. Peer-reviewed.
 
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.
 
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M., Verrigni D., Martinelli D., Torraco A., Agovino T., Bonafé L., D'Amico A., Donati M.A., Adorisio R., Santorelli F.M. et al., 2014. Molecular Genetics and Metabolism, 111 (3) pp. 353-359. Peer-reviewed.
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects
Ferriero R., Boutron A., Brivet M., Kerr D., Morava E., Rodenburg R.J., Bonafé L., Baumgartner M.R., Anikster Y., Braverman N.E. et al., 2014. Annals of Clinical and Translational Neurology, 1 (7) pp. 462-470. Peer-reviewed.
 
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.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner M.R., Hörster F., Dionisi-Vici C., Haliloglu G., Karall D., Chapman K.A., Huemer M., Hochuli M., Assoun M., Ballhausen D. et al., 2014. Orphanet Journal of Rare Diseases, 9 (1) p. 130. Peer-reviewed.
 
Pédiatrie 2. Génétique des épilepsies de l'enfant: Pour qui ? Comment? Pourquoi [Genetics of childhood epilepsies: for who? how? why?].
Lebon S., Campos-Xavier B., Bonafé L., Roulet-Perez E., 2014. Revue Médicale Suisse, 10 (412-413) pp. 110-111.
 
Une cause de cardiomyopathie dilatée chez l'enfant: le déficit primaire en carnitine [A cause of dilated cardiomyopathy in child: primary carnitine deficiency].
Baragou S., Pio M., Di Bernardo S., Ksontini T.B., Dommange S.J., Bonafe L., Meijboom E., Sekarski N., 2014. Annales de Cardiologie et d'Angéiologie, 63 (2) pp. 107-110.
 
Altered expression and posttranslational modification of neurofilaments in methylmalonic aciduria
Cung H.P., Zavadakova P., Braissant O., Ballhausen D., 2013. pp. S173 dans ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafé L., Ballhausen D., 2013. Plos One, 8 (1) pp. e53735. Peer-reviewed.
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafé L., Ballhausen D., 2013. Orphanet Journal of Rare Diseases, 8 (4) pp. 1-14. Peer-reviewed.
 
Different types of cell death are involved in brain damage of methylmalonic aciduria and glutaric aciduria type I
Zavadakova P., Jafari P., Cung HP, Werner D., Braissant O., Bonafé L., Ballhausen D., 2013. pp. S170-S171 dans ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
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.
 
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.
 
Low concentrations of 3-hydroxy glutarate leads to ammonium accumulation and non-apoptotic cell death in developing brain cells
Jafari P., Zavadakova P., Cung H.P., Braissant O., Ballhausen D., 2013. pp. S173 dans ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Mise à jour du diagnostic des maladies lysosomiales en Suisse
Ballhausen D., Rohrbach M., 2013. Paediatrica, 24 (5) pp. 27-28.
 
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Kannu P., Campos-Xavier A.B., Hull D., Martinet D., Ballhausen D., Bonafé L., 2013. European Journal of Medical Genetics, 56 (8) pp. 452-457. Peer-reviewed.
 
BRAIN DAMAGE IN METHYLMALONIC ACIDURIA: 2-METHYLCITRATE LEADS TO AMMONIA INCREASE AND APOPTOSIS
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafe L., Ballhausen D., 2012. pp. S9 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
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.
 
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
Zappu A., Lepori M.B., Incollu S., Dessì V., Noli M.C., Mameli E., Bonafé L., Garcia Dépraz N., De Virgiliis S., Cao A. et al., 2012. Molecular and Cellular Probes, 26 (2) pp. 63-65.
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.
Caburet S., Zavadakova P., Ben-Neriah Z., Bouhali K., Dipietromaria A., Charon C., Besse C., Laissue P., Chalifa-Caspi V., Christin-Maitre S. et al., 2012. Plos One, 7 (3) pp. e33412.
 
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Lepori M.B., Zappu A., Incollu S., Dessì V., Mameli E., Demelia L., Nurchi A.M., Gheorghe L., Maggiore G., Sciveres M. et al., 2012. Molecular and Cellular Probes, 26 (4) pp. 147-150.
 
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson B.H., Kasher P.R., Mayer J., Szynkiewicz M., Jenkinson E.M., Bhaskar S.S., Urquhart J.E., Daly S.B., Dickerson J.E., O'Sullivan J. et al., 2012. Nature Genetics, 44 (3) pp. 338-342. Peer-reviewed.
 
NEUROPATHOPHYSIOLOGICAL MECHANISMS IN GLUTARIC ACIDURIA TYPE I: 3-HYDROXYGLUTARIC ACID LEADS TO AMMONIA INCREASE AND NON-APOPTOTIC CELL DEATH
Jafari P., Braissant O., Zavadakova P., Henry H., Bonafe L., Ballhausen D., 2012. pp. S56 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
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.
 
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.
 
Phenylbutyrate therapy for pyruvate dehydrogenase deficiency
Ferriero Rosa, Lamantea Eleonora, Nusco Edoardo, Bonafe Luisa, Lee Brendan, Zeviani Massimo, Brunetti-Pierri Nicola, 2012. pp. 572-573 dans 12th International Congress of Human Genetics, Mitochondrion.
 
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.
 
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.
 
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.
 
A NOVEL MUTATION IN BCS1L IN A PATIENT WITH AN ISOLATED MITOCHONDRIAL COMPLEX III DEFICIENCY
Hahn D., Schaller A., Bonafe L., Haeberli A., Ferrarini A., Ballhausen D., Gallati S., Chehade H., Nuoffer J.M., 2011. pp. S163 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant
Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafé L., 2011. Pediatric Reports, 3 (3) pp. 103-107.
 
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.
 
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.
 
CO-EXPRESSION OF GCDH AND OAT1 IN NEURONS AND PROXIMAL TUBULE CELLS
Ballhausen D., Jafari P., Bonafe L., Braissant O., 2011. pp. S141 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
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.
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.
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.
 
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.
 
The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.
Jafari P., Braissant O., Bonafé L., Ballhausen D., 2011. Molecular Genetics and Metabolism, 104 (4) pp. 425-437. Peer-reviewed.
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.
 
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg M.E., Jakobs C., Errami A., van Dooren S.J., Adeva Bartolomé M.T., Aerssens P., Augoustides-Savvapoulou P., Baric I., Baumann M., Bonafé L. et al., 2010/01. Human Mutation, 31 (4) pp. 380-390. Peer-reviewed.
 
BORN AT 27 WEEKS OF GESTATION WITH CLASSICAL PKU: CHALLENGES OF DIETETIC MANAGEMENT IN A VERY PRETERM INFANT
Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafe L., 2010. pp. S105 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
Cartilage hair hypoplasia: successful reduced-intensity conditioning stem cell transplantation from HLA-identical unrelated donor and invasive cytomegalovirus infection
Kacinska-Pfaller E., Peters C., Matthes-Martin S., Bonafe L., Mittaz L., Geyeregger R., Lion T., 2010. pp. S271 dans 36th Annual Meeting of the European-Group-for-Blood-and-Marrow-Transplantat, 9th Meeting of the EBMT Data-Management-Group, 26th Meeting of the EBMT Nurses Group, 2nd EBMT Qual Management Meeting, Bone Marrow Transplantation. Peer-reviewed.
 
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.
Gok Faysal, Crettol Laureane Mittaz, Alanay Yasemin, Hacihamdioglu Bulent, Kocaoglu Murat, Bonafe Luisa, Ozen Seza, 2010. European Journal of Pediatrics, 169 (3) pp. 363-367.
 
DETERMINATION OF CELL-SPECIFIC NEUROTOXICITY OF MALONATE, METHYLMALONATE AND PROPIONATE IN A 3D RAT BRAIN CELL AGGREGATE SYSTEM
Ballhausen D., Henry H., Bonafe L., Braissant O., 2010. pp. S42 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
 
DIFFERENTIAL EXPRESSION OF GLUTARYL-CoA DEHYDROGENASE IN ADULT RAT CNS, PERIPHERAL TISSUES AND DURING EMBRYONIC DEVELOPMENT
Ballhausen D., Bonafe L., Braissant O., 2010. pp. S41 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen W.G., Klepper J., Verbeek M.M., Leferink M., Hofste T., van Engelen B.G., Wevers R.A., Arthur T., Bahi-Buisson N., Ballhausen D. et al., 2010. Brain, 133 (3) pp. 655-670.
Management and outcome of classical phenylketonuria in a preterm infant
Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafé L., 2010. dans 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU.
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
Ballhausen D., Guerry F., Hahn D., Schaller A., Nuoffer J.M., Bonafé L., Jeannet P.Y., Jacquemont S., 2010. Journal of Inherited Metabolic Disease, 33 Suppl 3 (Suppl 3) pp. S219-S226.
 
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.
 
Neuronal calcium channel mutation in a patient with congenital ataxia and attacks of hemiplegic migraine with cerebral edema
Depraz Nuria Garcia, 2010. pp. 21S dans Joint annual meeting of the Swiss Society for Pediatrics Swiss Society of Pediatric Pneumology, Swiss Medical Weekly.
 
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.
 
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.
 
Puce a ADN: pourquoi et pour qui [Array CGH: why and to whom]
Ferrarini A., Jacquemont S., Popovic M.B., Bonafé L., Martinet D., 2010. Revue Médicale Suisse, 6 (237) pp. 390-396.
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.
 
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
Novy J., Ballhausen D., Bonafé L., Cairoli A., Angelillo-Scherrer A., Bachmann C., Michel P., 2010. Thrombosis and Haemostasis, 103 (4) pp. 871-873.
Swiss Group for Inborn Errors of Metabolism (SGIEM): Recommendations about the use of tetrahydrobiopterin (BH4) in phenylketonuric (PKU) patients in Switzerland
Swiss Group for Inborn Errors of Metabolism (SGIEM), Ballhausen D., Baumgartner M., Bonafé L., Gautschi M., Huemer M., Jacobs P., Kern I., Nuoffer JM, Rohrbach M. et al., 2010. Paediatrica, 21 (5) p. 37.
 
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A., Legallic S., Steel G., Willis A., Di Rosa G., Goldenberg A., Drouin-Garraud V., Guet A., Mignot C., Des Portes V. et al., 2010. Human Mutation, 31 (8) pp. 961-965.
 
Achondrogenesis Type 1B.
Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., 2009. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet], University of Washington.
 
Atelosteogenesis Type 2
Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., 2009. pp. online dans Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet], University of Washington.
 
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
Meili D., Kralovicova J., Zagalak J., Bonafé L., Fiori L., Blau N., Thöny B., Vorechovsky I., 2009. Human Mutation, 30 (5) pp. 823-31. Peer-reviewed.
Early neurological impairment and severe anemia in a newborn with Pearson syndrome
Morel A. S., Joris N., Meuli R., Jacquemont S., Ballhausen D., Bonafe L., Fattet S., Tolsa J. F., 2009. European Journal of Pediatrics, 168 (3) pp. 311-5. Peer-reviewed.
 
Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain.
Ballhausen Diana, Mittaz Laureane, Boulat Olivier, Bonafé Louisa, Braissant Olivier, 2009. Neuroscience, 164 (2) pp. 578-587.
 
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.
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Gygax Marine Jequier, Roulet-Perez Eliane, Meagher-Villemure Kathleen, Jakobs Cornelis, Salomons Gajja S., Boulat Olivier, Superti-Furga Andrea, Ballhausen Diana, Bonafe Luisa, 2009. European Journal of Pediatrics, 168 (8) pp. 957-962. Peer-reviewed.
 
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.
Welting T.J., Mattijssen S., Peters F.M., van Doorn N.L., Dekkers L., van Venrooij W.J., Heus H.A., Bonafé L., Pruijn G.J., 2008/03. Biochimica et Biophysica Acta-Molecular Cell Research, 1783 (3) pp. 455-466. Peer-reviewed.
 
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.
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Bonafé L., Hästbacka J., de la Chapelle A., Campos-Xavier A.B., Chiesa C., Forlino A., Superti-Furga A., Rossi A., 2008. Journal of Medical Genetics, 45 (12) pp. 827-831. Peer-reviewed.
 
Birth of new exons in LINE-2 and in antisense AluSq by intronic mutations in the PTS gene leading to tetrahydrobiopterin (BH4)-cofactor deficiency
Meili D., Kralovicova J., Bonafe L., Flori L., Blau N., Vorechovsky B., Thony B., 2008. pp. 85-85 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease.
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Rimella-Le-Huu A., Henry H., Kern I., Hanquinet S., Roulet-Perez E., Newman C.J., Superti-Furga A., Bonafé L., Ballhausen D., 2008. Journal of Inherited Metabolic Disease. Peer-reviewed.
 
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.
 
Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.
Roulet-Perez E., Ballhausen D., Bonafé L., Cronel-Ohayon S., Maeder-Ingvar M., 2008. Epilepsia, 49 (11) pp. 1955-1958. Peer-reviewed.
 
Lethal dilated cardiomyopathy in a girl with SCAD deficiency
Ballhausen D., Sekarski N., Jeannet P.Y., Boulat O., Gregersen N., Bonafe L., 2008. pp. S35 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Long-term follow-up and outcome of patients with tetrahydrobiopterin deficiency
Jaggi L., Zurfluh M. R., Schuler A., Ponzone A., Porta F., Salvatici E., Giovannini M., Santer R., Hoffmann G. F., Ibel H. et al., 2008. pp. S83 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Methylmalonyl-CoA mutase expression in rat brain suggests autonomous methylamalonate production in CNS
Ballhausen D., Bonafe L., Boulat O., Braissant O., 2008. pp. S16 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Peculiar findings in intermediate type of adenylosuccinate lyase deficiency
Ballhausen D., Lazzarino G., Tavazzi B., Jequier M., Roulet-Perez E., Jacquemont S., Roux C., Bonafe L., 2008. pp. S159 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Retinopathy, progressive intracerebral calcification and epilepsy in a premature new-born: case report of a new entity
Gygax M.J., De Ribeaupierre S., Wolfensberger T.J., Bonafe L., Maeder P., Roulet-Perez E., Jeannet P.Y., 2008. pp. 45S dans Annual Joint Meeting of the Swiss Societies for Paediatrics, Child and Adolescent Psychiatry, Paediatric Surgery, Swiss Medical Weekly. Peer-reviewed.
 
Segregation study in family with severe variant of the A3302G mutation in the mitochondrial tRNA LEU (UUR)
Ballhausen D., Guerry F., Hahn D., Bonafe L., Jacquemont S., 2008. pp. S55 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
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.
 
Delayed diagnosis of atypical mild GLUT1 deficiency
Ballhausen D., Kallay C., Cronel-Ohayon S., Maeder-Ingvar M., Roulet-Perez E., Bonafe L., 2007. p. 57 dans 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Early onset severe myopathy due to the A3302G mutation in the mitochondrial tRNA LEU(UUR).
Hahn D., Schaller A., Gallati S., Ballhausen D., Jacquemont S., Jeannet P.Y., Bonafé L., Nuoffer J.M., 2007. p. 72 dans 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
 
Glucose transporter type 1 (GLUT-1) deficiency syndrome can be mistaken for primary generalized epilepsy
Maeder-Ingvar M., Cronel-Ohayon S., Kallay C., Ballhausen D., Roulet-Perez E., 2007. p. 87 dans 11th Congress of the European Federation of Neurological Societies, European Journal of Neurology. Peer-reviewed.
 
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.
Swiss Metabolic Group. Recommendations pour le traitement de la phénylcétonurie et de l'hyperphénylalaniémie
Ballhausen D., Baumgartner M., Bonafé L., Fiege B., Kern I., Nuoffer JM, 2006. Paediatrica, 17 (2) p. 14.
 
Extended tetrahydrobiopterin (BH4) loading test in the diagnosis of BH4_responsive PKU
Fiege B., Fiori L., Bonafe L., Ballhausen D., Baumgartner M., Thoeny B., Giovannini M., Blau N., 2005. p. 31 dans SSIEM 2005, 42st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases. Peer-reviewed.
 
Diastrophic Dysplasia
Bonafé L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., 2004. <?xml Vers p. 18. Peer-reviewed.
 
Prenatal diagnosis of boomerang dysplasia.
Wessels M.W., Den Hollander N.S., De Krijger R.R., Bonafé L., Superti-Furga A., Nikkels P.G., Willems P.J., 2003. American journal of medical genetics. Part A, 122A (2) pp. 148-154. Peer-reviewed.
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