Mapping the Down syndrome chromosome region. Establishment of a YAC contig spanning 1.2 megabases

Autor: Crété N, Gosset P, Théophile D, Martine Duterque-Coquillaud, Jl, Blouin, Vayssettes C, Pm, Sinet, Créau-Goldberg N

Publikováno v: Europe PubMed Central

The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). To improve the physical map of this region, we sc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b108fe5c252db076d9799e42e93d5c1f
http://europepmc.org/abstract/med/8069651

Resting-state functional connectivity abnormalities in subjective cognitive decline: A 7T MRI study.

Autor: Pievani M; Laboratory of Alzheimer's Neuroimaging and Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. Electronic address: mpievani@fatebenefratelli.eu., Ribaldi F; Laboratory of Neuroimaging of Aging (LANVIE), University of Geneva, Geneva, Switzerland; Geneva Memory Center, Department of Rehabilitation and Geriatrics, Geneva University Hospitals, Geneva, Switzerland., Toussas K; Laboratory of Neuroimaging of Aging (LANVIE), University of Geneva, Geneva, Switzerland., Da Costa S; CIBM Center for Biomedical Imaging, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Jorge J; CSEM - Swiss Center for Electronics and Microtechnology, Bern, Switzerland., Reynaud O; CIBM Center for Biomedical Imaging, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland; Fondation Campus Biotech Geneva, Geneva, Switzerland., Chicherio C; Geneva Memory Center, Department of Rehabilitation and Geriatrics, Geneva University Hospitals, Geneva, Switzerland., Blouin JL; Genetic Medicine, Diagnostics Dept, University Hospitals and University of Geneva, Geneva, Switzerland., Scheffler M; Division of Radiology, Geneva University Hospitals, Geneva, Switzerland., Garibotto V; Laboratory of Neuroimaging and Innovative Molecular Tracers (NIMTlab), Geneva University Neurocenter and Faculty of Medicine, University of Geneva, Geneva, Switzerland; Division of Nuclear Medicine and Molecular Imaging, Geneva University Hospitals, Geneva, Switzerland; CIBM Center for Biomedical Imaging, Geneva, Switzerland., Jovicich J; Center for Mind/Brain Sciences, University of Trento, Rovereto, Italy., Jelescu IO; CIBM Center for Biomedical Imaging, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland; Lausanne University Hospital (CHUV) and University of Lausanne (UNIL) Lausanne, Department of Radiology, Lausanne, Switzerland., Frisoni GB; Laboratory of Neuroimaging of Aging (LANVIE), University of Geneva, Geneva, Switzerland; Geneva Memory Center, Department of Rehabilitation and Geriatrics, Geneva University Hospitals, Geneva, Switzerland.

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2024 Dec; Vol. 144, pp. 104-113. Date of Electronic Publication: 2024 Sep 14.

Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.

Autor: Schwitzgebel VM; Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland.; Diabetes Center of the Faculty of Medicine, University of Geneva, Geneva, Switzerland., Blouin JL; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Dehos B; Division of Endocrinology and Diabetes, Spital Grabs, Grabs, Switzerland., Köhler-Ballan B; Department of Infectious Disease, Geneva University Hospitals, Geneva, Switzerland., Puder JJ; Department Women-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Valais, Switzerland., Triantafyllidou M; Division of Endocrinology, Diabetes and Clinical Nutrition, Luzerner Kantonsspital, Lucerne, Switzerland., Zanchi A; Department of Medicine, Service of Endocrinology, Diabetes and Metabolism, Lausanne University Hospital, Lausanne, Switzerland., Abramowicz M; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Nouspikel T; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2024 Apr 30; Vol. 11, pp. 1347290. Date of Electronic Publication: 2024 Apr 30 (Print Publication: 2024).

Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.

Autor: Zgheib O; Division of Genetic Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland. omar.zgheib@hcuge.ch., Chamchoy K; Princess Srisavangavadhana College of Medicine, Chulabhorn Royal Academy, Bangkok, Thailand., Nouspikel T; Division of Genetic Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland., Blouin JL; Division of Genetic Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland., Cimasoni L; Division of Pediatric Haematology, Department of Pediatrics, Geneva University Hospitals, Geneva, Switzerland., Quteineh L; Division of Genetic Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland., Boonyuen U; Department of Molecular Tropical Medicine and Genetics, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand. usa.boo@mahidol.edu.

Publikováno v: Communications biology [Commun Biol] 2023 Dec 09; Vol. 6 (1), pp. 1245. Date of Electronic Publication: 2023 Dec 09.

Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report.

Autor: Luterbacher F; Pediatric Endocrinology and Diabetology, Department of Pediatrics, Gynecology and Obstetrics, University Hospitals of Geneva, Rue Willy-Donzé 6, 1205, Geneva, Switzerland., Blouin JL; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, 1211, Geneva, Switzerland.; Department of Diagnostics, University Hospitals of Geneva, 1211, Geneva, Switzerland., Schwitzgebel VM; Pediatric Endocrinology and Diabetology, Department of Pediatrics, Gynecology and Obstetrics, University Hospitals of Geneva, Rue Willy-Donzé 6, 1205, Geneva, Switzerland. valerie.schwitzgebel@unige.ch.; Diabetes Center of the Faculty of Medicine, University of Geneva, 1211, Geneva, Switzerland. valerie.schwitzgebel@unige.ch.

Publikováno v: BMC endocrine disorders [BMC Endocr Disord] 2023 Oct 20; Vol. 23 (1), pp. 228. Date of Electronic Publication: 2023 Oct 20.