Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Véronique Darmency, Sharon Whiting, Laurence Faivre, Jean-François Deleuze, Daniel H. Lowenstein, Julien Thevenon, Rebecca Hernan, Matthew A. Lines, Orly Elpeleg, Yannis Duffourd, Corinne Antignac, Mirna Assoum, Erin L. Heinzen, Martine Lemesle, Christel Thauvin-Robinet, Aurélie Bertholet-Thomas, Wendy K. Chung, Orrin Devinsky, Eric B. Geller, Vincent des Portes, Alexandre Belot, Simon Edvardson
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
IF 2.264; International audience; De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with epileptic encephalopathy (EE), but these reports were not
Autor:
Morad Khayat, Sofia Soltsman, Orly Elpeleg, Hatem Habiballa, Stavit A. Shalev, Elena Chervinsky
Publikováno v:
American journal of medical genetics. Part A. 176(4)
Pathogenic variants in the TTN gene have been reported to cause various cardiomyopathies and a range of skeletal muscle diseases, collectively known as titinopathies. We evaluated a consanguineous family multiple members affected with a lethal congen
Autor:
Amihood Singer, Moshe Gomori, Orly Elpeleg, Avraham Shaag, Nuphar Hacohen, Vardiella Meiner, Tamar Harel
Publikováno v:
American journal of medical genetics. Part A. 173(9)
Lissencephaly is a severe malformation of cortical development, most often attributed to abnormalities in neuronal migration. It is associated with a severe prognosis including developmental delay, intellectual disability, and seizures. Lissencephaly
Publikováno v:
American journal of medical genetics. Part A. (3)
Mutations in genes encoding the origin recognition complex subunits cause Meier-Gorlin syndrome. The disease manifests a triad of short stature, small ears, and small and/or absent patellae with variable expressivity. We report on the identification
Autor:
Ephrat Levy-Lahad, Michal Inbar-Feigenberg, Shamir Zenvirt, Orly Elpeleg, Rachel Michaelson-Cohen, Avraham Shaag, Ziva Ben-Neriah, Michael Nadjari, Sharon Zeligson
Publikováno v:
American journal of medical genetics. Part A. (11)
Diaphonospondylodysostosis (DSD) is a rare, recessively inherited, lethal skeletal dysplasia, characterized by severe spinal ossification, segmentation defects, and renal cystic dysplasia with nephrogenic rests. We hereby present three affected indiv
Autor:
Simon Edvardson, Orly Elpeleg, Chaim Jalas, Avraham Shaag, Shamir Zenvirt, Landau C, Israela Lerer
Publikováno v:
American journal of medical genetics. Part A. (5)
Autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) in Ashkenazi Jews, is mainly caused by mutations in the GJB2 and GJB6 genes. Here we describe a novel homozygous mutation of the LOXHD1 gene resulting in a premature stop codon (R15
Autor:
Joe T.R. Clarke, Neviana MacKay, Annette Feigenbaum, Deborah L. Renaud, Valeriy Levandovskiy, Jessie M. Cameron, Orly Elpeleg, Julian Raiman, Brian H. Robinson
Publikováno v:
American journal of medical genetics. Part A. 140(14)
We have diagnosed dihydrolipoamide dehydrogenase (DLD) deficiency in two male second cousins, who presented with markedly different clinical phenotypes. Patient 1 had a recurrent encephalopathy, and patient 2 had microcephaly and lactic acidosis. The