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AFFICHER LES DONNEES
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Diana Ballhausen

Coordonnées Enseignements Publications  
Publications | Mémoires et thèses

La recherche avancée est accessible via Serval

Les publications peuvent être modifiées via MyUnil

Publications

2014

Abela L., Plecko B., Palla A., Burda P., Nuoffer J.M., Ballhausen D., Rohrbach M., Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases 9(1), p. 176, 2014. [DOI] [Web of Science] [Pubmed] ok

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., Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases 9(1), p. 130, 2014. [DOI] [Web of Science] [Pubmed] ok

Fischer S., Huemer M., Baumgartner M., Deodato F., Ballhausen D., Boneh A., Burlina A.B., Cerone R., Garcia P., Gökçay G. et al., Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease 37(5), pp. 831-840, 2014. [DOI] [Web of Science] [Pubmed] ok

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., Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease 37(1), pp. 21-30, 2014. [DOI] [Web of Science] [Pubmed]

2013

Ballhausen D., Rohrbach M., Mise à jour du diagnostic des maladies lysosomiales en Suisse. Paediatrica 24(5), pp. 27-28, 2013. [Document]

Cung H.P., Zavadakova P., Braissant O., Ballhausen D., Altered expression and posttranslational modification of neurofilaments in methylmalonic aciduria. In: ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 36(Suppl. 2),, p. S173, 2013.

Jafari P., Braissant O., Zavadakova P., Henry H., Bonafé L., Ballhausen D., Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. Plos One 8(1), p. e53735, 2013. [Document] [DOI] [Web of Science] [Pubmed] ok

Jafari P., Braissant O., Zavadakova P., Henry H., Bonafé L., Ballhausen D., Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures. Orphanet Journal of Rare Diseases 8(4), pp. 1-14, 2013. [Document] [DOI] [Web of Science] [Pubmed] ok

Jafari P., Zavadakova P., Cung H.P., Braissant O., Ballhausen D., Low concentrations of 3-hydroxy glutarate leads to ammonium accumulation and non-apoptotic cell death in developing brain cells. In: ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 36(Suppl. 2),, p. S173, 2013.

Kannu P., Campos-Xavier A.B., Hull D., Martinet D., Ballhausen D., Bonafé L., Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5. European Journal of Medical Genetics 56(8), pp. 452-457, 2013. [DOI] [Web of Science] [Pubmed] ok

Zavadakova P., Jafari P., Cung HP, Werner D., Braissant O., Bonafé L., Ballhausen D., Different types of cell death are involved in brain damage of methylmalonic aciduria and glutaric aciduria type I. In: ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 36(Suppl. 2),, pp. S170-S171, 2013.

2012

Ballhausen D., Dépraz N.G., Kern I., Unger S., Bonafé L., Nouvelles thérapies pour les maladies osseuses de l'enfant [New therapies for children affected by bone diseases]. Revue Médicale Suisse 8(329), pp. 398-402, 2012. [Pubmed]

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., SOMATIC MUTATIONS IN THE KREBS CYCLE ENZYME ISOCITRATE DEHYDROGENASE 1 (IDH1) CAUSE METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 35(Suppl. 1),, p. S143, 2012. [Web of Science]

Jafari P., Braissant O., Zavadakova P., Henry H., Bonafe L., Ballhausen D., NEUROPATHOPHYSIOLOGICAL MECHANISMS IN GLUTARIC ACIDURIA TYPE I: 3-HYDROXYGLUTARIC ACID LEADS TO AMMONIA INCREASE AND NON-APOPTOTIC CELL DEATH. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 35(Suppl. 1),, p. S56, 2012. [Web of Science]

Jafari P., Braissant O., Zavadakova P., Henry H., Bonafe L., Ballhausen D., BRAIN DAMAGE IN METHYLMALONIC ACIDURIA: 2-METHYLCITRATE LEADS TO AMMONIA INCREASE AND APOPTOSIS. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 35(Suppl. 1),, p. S9, 2012. [Web of Science]

2011

Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafé L., Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant. Pediatric Reports 3(3), pp. 103-107, 2011. [Document] [DOI]

Ballhausen D., Jafari P., Bonafe L., Braissant O., CO-EXPRESSION OF GCDH AND OAT1 IN NEURONS AND PROXIMAL TUBULE CELLS. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 34(Suppl. 3),, p. S141, 2011. [Web of Science]

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., Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. American Journal of Human Genetics 89(6), pp. 767-772, 2011. [DOI] [Web of Science] [Pubmed]

Hahn D., Schaller A., Bonafe L., Haeberli A., Ferrarini A., Ballhausen D., Gallati S., Chehade H., Nuoffer J.M., A NOVEL MUTATION IN BCS1L IN A PATIENT WITH AN ISOLATED MITOCHONDRIAL COMPLEX III DEFICIENCY. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 34(Suppl. 3),, p. S163, 2011.

Jafari P., Braissant O., Bonafé L., Ballhausen D., The unsolved puzzle of neuropathogenesis in glutaric aciduria type I. Molecular Genetics and Metabolism 104(4), pp. 425-437, 2011. [Document] [DOI] [Web of Science] [Pubmed] ok

2010

Ballhausen D., Bonafe L., Braissant O., DIFFERENTIAL EXPRESSION OF GLUTARYL-CoA DEHYDROGENASE IN ADULT RAT CNS, PERIPHERAL TISSUES AND DURING EMBRYONIC DEVELOPMENT. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 33(Suppl. 1),, p. S41, 2010. [Web of Science]

Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafe L., BORN AT 27 WEEKS OF GESTATION WITH CLASSICAL PKU: CHALLENGES OF DIETETIC MANAGEMENT IN A VERY PRETERM INFANT. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 33(Suppl. 1),, p. S105, 2010. [Web of Science]

Ballhausen D., Egli D., Bickle-Graz M., Bianchi N., Bonafé L., Management and outcome of classical phenylketonuria in a preterm infant. In: 2nd European Phenylketonuria Group (EPG) Symposium - Advances and Challenges in PKU., 2010. [Document]

Ballhausen D., Guerry F., Hahn D., Schaller A., Nuoffer J.M., Bonafé L., Jeannet P.Y., Jacquemont S., Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Journal of Inherited Metabolic Disease 33 Suppl 3(Suppl 3), pp. S219-S226, 2010. [DOI] [Pubmed]

Ballhausen D., Henry H., Bonafe L., Braissant O., DETERMINATION OF CELL-SPECIFIC NEUROTOXICITY OF MALONATE, METHYLMALONATE AND PROPIONATE IN A 3D RAT BRAIN CELL AGGREGATE SYSTEM. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 33(Suppl. 1),, p. S42, 2010. [Web of Science]

Bonafé L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., Multiple Epiphyseal Dysplasia, Recessive. In: Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews. March 18, University of Washington, Seattle, p. online, 2010. [Pubmed]

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., Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 133(3), pp. 655-670, 2010. [DOI] [Web of Science] [Pubmed]

Novy J., Ballhausen D., Bonafé L., Cairoli A., Angelillo-Scherrer A., Bachmann C., Michel P., Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency. Thrombosis and Haemostasis 103(4), pp. 871-873, 2010. [DOI] [Web of Science] [Pubmed]

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., Swiss Group for Inborn Errors of Metabolism (SGIEM): Recommendations about the use of tetrahydrobiopterin (BH4) in phenylketonuric (PKU) patients in Switzerland. Paediatrica 21(5), p. 37, 2010. [Document]

2009

Ballhausen Diana, Mittaz Laureane, Boulat Olivier, Bonafé Louisa, Braissant Olivier, 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. Neuroscience 164(2), pp. 578-587, 2009. [DOI] [Web of Science] [Pubmed]

Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., Achondrogenesis Type 1B. In: Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet]. September 22, University of Washington, Seattle, p. online, 2009. [url site éditeur] [Pubmed]

Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A., Atelosteogenesis Type 2. In: Pagon R.A., Bird T.C., Dolan C.R., Stephens K. (eds.) GeneReviews [Internet]. October 1, University of Washington, Seattle, p. online, 2009. [url site éditeur] [Pubmed]

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., Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. American Journal of Human Genetics 84(6), pp. 760-770, 2009. [DOI] [Web of Science] [Pubmed]

Gygax Marine Jequier, Roulet-Perez Eliane, Meagher-Villemure Kathleen, Jakobs Cornelis, Salomons Gajja S., Boulat Olivier, Superti-Furga Andrea, Ballhausen Diana, Bonafe Luisa, Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. European Journal of Pediatrics 168(8), pp. 957-962, 2009. [DOI] [Web of Science] [Pubmed] ok

Morel A. S., Joris N., Meuli R., Jacquemont S., Ballhausen D., Bonafe L., Fattet S., Tolsa J. F., Early neurological impairment and severe anemia in a newborn with Pearson syndrome. European Journal of Pediatrics 168(3), pp. 311-5, 2009. [DOI] [Web of Science] [Pubmed] ok

2008

Ballhausen D., Bonafe L., Boulat O., Braissant O., Methylmalonyl-CoA mutase expression in rat brain suggests autonomous methylamalonate production in CNS. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 31(Suppl. 1),, p. S16, 2008. [Web of Science] ok

Ballhausen D., Guerry F., Hahn D., Bonafe L., Jacquemont S., Segregation study in family with severe variant of the A3302G mutation in the mitochondrial tRNA LEU (UUR). In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 31(Suppl. 1),, p. S55, 2008. [DOI] [Web of Science] ok

Ballhausen D., Lazzarino G., Tavazzi B., Jequier M., Roulet-Perez E., Jacquemont S., Roux C., Bonafe L., Peculiar findings in intermediate type of adenylosuccinate lyase deficiency. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 31(Suppl. 1),, p. S159, 2008. [DOI] [Web of Science] ok

Ballhausen D., Sekarski N., Jeannet P.Y., Boulat O., Gregersen N., Bonafe L., Lethal dilated cardiomyopathy in a girl with SCAD deficiency. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 31(Suppl. 1),, p. S35, 2008. [DOI] [Web of Science] ok

Jaggi L., Zurfluh M. R., Schuler A., Ponzone A., Porta F., Salvatici E., Giovannini M., Santer R., Hoffmann G. F., Ibel H. et al., Long-term follow-up and outcome of patients with tetrahydrobiopterin deficiency. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 31(Suppl. 1),, p. S83, 2008. [DOI] [Web of Science] ok

Jaggi L., Zurfluh M.R., Schuler A., Ponzone A., Porta F., Fiori L., Giovannini M., Santer R., Hoffman G. F., Ibel H. et al., Variable outcome of tetrahydrobiopterin deficiency: Effect of the time of diagnosis and treatment. In: SIMD 2008, Annual Meeting of the Society for Inherited Metabolic Disorders. Molecular Genetics and Metabolism 93(3),, p. 11, 2008. [Web of Science] ok

Jäggi L., Zurflüh M.R., Schuler A., Ponzone A., Porta F., Fiori L., Giovannini M., Santer R., Hoffmann G.F., Ibel H. et al., Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Molecular Genetics and Metabolism 93(3), pp. 295-305, 2008. [DOI] [Web of Science] [Pubmed] ok

Rimella-Le-Huu A., Henry H., Kern I., Hanquinet S., Roulet-Perez E., Newman C.J., Superti-Furga A., Bonafé L., Ballhausen D., Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. Journal of Inherited Metabolic Disease, 2008. [DOI] [Pubmed] ok

Roulet-Perez E., Ballhausen D., Bonafé L., Cronel-Ohayon S., Maeder-Ingvar M., Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. Epilepsia 49(11), pp. 1955-1958, 2008. [DOI] [Web of Science] [Pubmed] ok

2007

Ballhausen D., Kallay C., Cronel-Ohayon S., Maeder-Ingvar M., Roulet-Perez E., Bonafe L., Delayed diagnosis of atypical mild GLUT1 deficiency. In: 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 30(Suppl. 1),, p. 57, 2007. [Web of Science] ok

Hahn D., Schaller A., Gallati S., Ballhausen D., Jacquemont S., Jeannet P.Y., Bonafé L., Nuoffer J.M., Early onset severe myopathy due to the A3302G mutation in the mitochondrial tRNA LEU(UUR). In: 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 30(Suppl. 1),, p. 72, 2007. [Web of Science] ok

Maeder-Ingvar M., Cronel-Ohayon S., Kallay C., Ballhausen D., Roulet-Perez E., Glucose transporter type 1 (GLUT-1) deficiency syndrome can be mistaken for primary generalized epilepsy. In: 11th Congress of the European Federation of Neurological Societies. European Journal of Neurology 14(Suppl. 1),, p. 87, 2007. [Web of Science] ok

2006

Ballhausen D., Baumgartner M., Bonafé L., Fiege B., Kern I., Nuoffer JM, Swiss Metabolic Group. Recommendations pour le traitement de la phénylcétonurie et de l'hyperphénylalaniémie. Paediatrica 17(2), p. 14, 2006. [Document]

Loupatty F.J., van der Steen A., Ijlst L., Ruiter J.P., Ofman R., Baumgartner M.R., Ballhausen D., Yamaguchi S., Duran M., Wanders R.J., Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. Molecular Genetics and Metabolism 87(3), pp. 243-248, 2006. [DOI] [Web of Science] [Pubmed] ok

Renella R., Schaefer E., LeMerrer M., Alanay Y., Kandemir N., Eich G., Costa T., Ballhausen D., Boltshauser E., Bonafe L. et al., Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. American Journal of Medical Genetics. Part A 140(6), pp. 541-50, 03-2006. [DOI] [Web of Science] [Pubmed] ok

2005

Balmer C., Ballhausen D., Bosshard N.U., Steinmann B., Boltshauser E., Bauersfeld U., Superti-Furga A., Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. European Journal of Pediatrics 164(8), pp. 509-514, 2005. [DOI] [Web of Science] [Pubmed]

Fiege B., Bonafe L., Ballhausen D., Baumgartner M., Thony B., Meili D., Fiori L., Giovannini M., Blau N., Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Molecular Genetics and Metabolism 86 Suppl 1, pp. S91-5, 12-2005. [DOI] [Web of Science] [Pubmed] ok

Fiege B., Fiori L., Bonafe L., Ballhausen D., Baumgartner M., Thoeny B., Giovannini M., Blau N., Extended tetrahydrobiopterin (BH4) loading test in the diagnosis of BH4_responsive PKU. In: SSIEM 2005, 42st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Diseases 28(Suppl. 1),, p. 31, 2005. [Web of Science] ok

2004

Fiege B., Ballhausen D., Kierat L., Leimbacher W., Goriounov D., Schircks B., Thöny B., Blau N., Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Molecular Genetics and Metabolism 81(1), pp. 45-51, 2004. [DOI] [Web of Science] [Pubmed] ok

Muschol N., Storch S., Ballhausen D., Beesley C., Westermann J.C., Gal A., Ullrich K., Hopwood J.J., Winchester B., Braulke T., Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Human Mutation 23(6), pp. 559-566, 2004. [DOI] [Web of Science] [Pubmed] ok

2003

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., Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Journal of Medical Genetics 40(1), pp. 65-71, 01-2003. [DOI] [Web of Science] [Pubmed] ok

Blau N., Fiege B., Ballhausen D., Schircks B., Kierat L., Leimbacher W., Thöny B., Pharmacokinetic of orally administered tetrahydrobiopterin and its stability in plasma. In: 9th International Congress on Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 26(Suppl. 2),, p. 23, 2003. ok

Kleinert P., Kuster T., Durka S., Ballhausen D., Bosshard N.U., Steinmann B., Hänseler E., Jaeken J., Heizmann C.W., Troxler H., Mass spectrometric analysis of human transferrin in different body fluids. Clinical Chemistry and Laboratory Medicine 41(12), pp. 1580-1588, 2003. [DOI] [Web of Science] [Pubmed]

2002

Breitinger H.G., Villmann C., Rennert J., Ballhausen D., Becker C.M., Hydroxylated residues influence desensitization behaviour of recombinant alpha3 glycine receptor channels. Journal of Neurochemistry 83(1), pp. 30-36, 2002. [Web of Science] [Pubmed] ok

Kölble N., Sobetzko D., Ersch J., Stallmach T., Eich G., Huch R., Huch A., Superti-Furga A., Wisser J., Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. Ultrasound In Obstetrics and Gynecology 19(1), pp. 92-98, 2002. [DOI] [Web of Science] [Pubmed]

Mach J., Sobetzko D., Superti-Furga A., Stoll T., Vorzeitig generalisierte Polyarthrose (Stickler Syndrom) [Early-onset generalized polyarthritis (Stickler syndrome)]. Praxis 91(9), pp. 361-366, 2002. [Document] [DOI] [Pubmed]

Muschol N., Storch S., Ballhausen D., Gal A., Beesley C., Ullrich K., Hopwood J., Winchester B., Braulke T., Expression studies of mutant sulfamidases. In: 8th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Journal of Inherited Metabolic Disease 25(Suppl. 1),, p. 122, 2002. ok

2001

Sobetzko D., Sander T., Becker C.M., Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies. American Journal of Medical Genetics 105(6), pp. 534-538, 2001. [Web of Science] [Pubmed] ok

2000

Becker C.M., Becker K., Breitinger H.G., Villmann C., Nikolic Z., Sobetzko D., Allelic variants of the glycine receptor alpha 1 subunit gene (GLRA1) in the human neurological disorder hyperekplexia, define molecular determinants of ion channel gating. In: 6th Annual Meeting of the Organization for Human Brain Mapping. European Journal of Neuroscience 12(Suppl. S),, p. 516, 2000. [Web of Science] ok

Konrad D., Sobetzko D., Schmitt B., Schoenle E.J., Insulin-dependent diabetes mellitus induced by the antitussive agent dextromethorphan. Diabetologia 43(2), pp. 261-262, 2000. [Pubmed]

Sobetzko D., Braga S., Rüdeberg A., Superti-Furga A., Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. Journal of Medical Genetics 37(12), pp. 958-959, 2000. [Web of Science] [Pubmed]

Sobetzko D., Eich G., Kalff-Suske M., Grzeschik K.H., Superti-Furga A., Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. American Journal of Medical Genetics 90(3), pp. 239-242, 2000. [Web of Science] [Pubmed]

Superti-Furga A., Hecht J., Unger S., Cole W., Hamel B., Bellus G., Classen M., LeMerrer M., Zabel B., Langer L et al., Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation twelve individuals homozygous for DTDST mutation R279W. In: 50th Annual Meeting of the American Society of Human Genetics. American Journal of Human Genetics 67(4 Suppl. 2),, p. 379, 2000. [Web of Science] ok

Unger S.L., King L.M., Sobetzko D., Superti-Furga A., Cohn D.H., A multiplicity of loci for multiple epiphyseal dysplasia. In: 50th Annual Meeting of the American Society of Human Genetics. American Journal of Human Genetics 67(4 Suppl. 2),, p. 371, 2000. [Web of Science] ok

1999

Saul B., Kuner T., Sobetzko D., Brune W., Hanefeld F., Meinck H.M., Becker C.M., Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. Journal of Neuroscience 19(3), pp. 869-877, 1999. [Document] [Pubmed] ok

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