High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.

Autor: Coukos A; Divisions of Gastroenterology and Hepatology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Saglietti C; Institute of Pathology, Department of Laboratory Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Sempoux C; Institute of Pathology, Department of Laboratory Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Haubitz M; Department of Biomedical Research, Laboratory for Hematopoiesis and Molecular Genetics, University of Bern, Bern, Switzerland., Greuter T; Divisions of Gastroenterology and Hepatology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Division of Gastroenterology and Hepatology, Department of Medicine, GZO-Zurich Regional Health Center, Wetzikon, Switzerland., Mittaz-Crettol L; Genetic Medicine, Department of Laboratory Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Maurer F; Genetic Medicine, Department of Laboratory Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Mdawar-Bailly E; Divisions of Gastroenterology and Hepatology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Moradpour D; Divisions of Gastroenterology and Hepatology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Alberio L; Department of Oncology, Hematology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Good JM; Genetic Medicine, Department of Laboratory Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Baerlocher GM; Department of Biomedical Research, Laboratory for Hematopoiesis and Molecular Genetics, University of Bern, Bern, Switzerland., Fraga M; Divisions of Gastroenterology and Hepatology, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Publikováno v: Hepatology communications [Hepatol Commun] 2024 Jul 22; Vol. 8 (8). Date of Electronic Publication: 2024 Jul 22 (Print Publication: 2024).

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

Autor: CRANENBURG, E.C.M. ¹, 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., SCHURGERS, L.J., LAVERMAN, G.D.

Publikováno v: In Journal of Thrombosis and Haemostasis June 2011 9(6):1225-1235

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

Autor: Royer-Bertrand B; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Lebon S; Unit of Pediatric Neurology and Neurorehabilitation, Department of Pediatrics, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Craig A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Maeder J; Unit of Pediatric Neurology and Neurorehabilitation, Department of Pediatrics, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Mittaz-Crettol L; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Fodstad H; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1658-1663. Date of Electronic Publication: 2023 Mar 10.

P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation

Autor: Jacquier, D., Good, J., Laubscher, B., Mercati, D., Roulet-Perez, E., Kuntzer, T., Royer-Bertrand, B., Mittaz-Crettol, L., Fostad, H., Superti-Furga, A., Klein, A.

Publikováno v: In Neuromuscular Disorders October 2019 29 Supplement 1:S191-S192

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

Autor: Royer-Bertrand B; Division of Genetic Medicine Lausanne University Hospital (CHUV) Lausanne Switzerland.; Department of Computational Biology Unit of Medical Genetics University of Lausanne Lausanne Switzerland., Tsouni P; Nerve-Muscle Unit Department of Clinical Neurosciences Lausanne University Hospital (CHUV) Lausanne Switzerland.; Leenaards Memory Centre Department of Clinical Neurosciences Lausanne University Hospital (CHUV) Lausanne Switzerland., Mullen P; Department of Biochemistry Larner College of Medicine University of Vermont Burlington Vermont., Campos Xavier B; Division of Genetic Medicine Lausanne University Hospital (CHUV) Lausanne Switzerland., Mittaz Crettol L; Division of Genetic Medicine Lausanne University Hospital (CHUV) Lausanne Switzerland., Lobrinus AJ; Department of Pathology University Hospital Geneva Geneva Switzerland., Ghika J; Leenaards Memory Centre Department of Clinical Neurosciences Lausanne University Hospital (CHUV) Lausanne Switzerland., Baumgartner MR; Division of Metabolism and Children's Research Center (CRC) University Children's Hospital Zurich Switzerland.; radiz - Rare Disease Initiative Zurich Clinical Research Priority Program for Rare Diseases University of Zurich Zurich Switzerland., Rivolta C; Department of Computational Biology Unit of Medical Genetics University of Lausanne Lausanne Switzerland.; Department of Genetics and Genome Biology University of Leicester Leicester United Kingdom., Superti-Furga A; Division of Genetic Medicine Lausanne University Hospital (CHUV) Lausanne Switzerland., Kuntzer T; Nerve-Muscle Unit Department of Clinical Neurosciences Lausanne University Hospital (CHUV) Lausanne Switzerland., Francklyn C; Department of Biochemistry Larner College of Medicine University of Vermont Burlington Vermont., Tran C; Division of Genetic Medicine Lausanne University Hospital (CHUV) Lausanne Switzerland.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 May 24; Vol. 6 (6), pp. 1072-1080. Date of Electronic Publication: 2019 May 24 (Print Publication: 2019).