Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Michael Assa, Fadia Zagairy, Ronen Spiegel, Orly Elpeleg, Ziva Ben Neriah, Nitzan Biran, Amnon Harel, Boris Fichtman, Avraham Shaag, Elena Chervinsky, Yiftah Barsheshet
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature Communications
Nature Communications
Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and p
Autor:
Michael Sacher, Avraham Shaag, Michael O. Dorschner, Miroslav P. Milev, David S. Hanna, Christopher J. Hale, Ian A. Glass, Yong-Han Hank Cheng, Dan Doherty, Keshika Prematilake, Simon Edvardson, Megan E. Grout, Djenann Saint-Dic, Orly Elpeleg
Publikováno v:
The American Journal of Human Genetics. 101:291-299
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either
Autor:
William G. Newman, Ronen Spiegel, Jill E. Urquhart, Orly Elpeleg, Rajech Sharkia, Abdelnaser Zalan, Milit Marom-David, Muhammad Mahajnah, Simon G. Williams, Abdussalam Azem, Nathan Watemberg, Stavit A. Shalev, Sanjeev S. Bhaskar, Sarah B. Daly
Publikováno v:
American Journal of Medical Genetics Part A. 173:1051-1055
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay ass
Autor:
Sungjin Moon, Barak Yaacov, Ludmila Francescatto, Azaria J.J.T. Rein, Nicholas Katsanis, Asaf Ta-Shma, Simon Edvardson, Zeev Perles, Orly Elpeleg
Publikováno v:
Journal of Medical Genetics. 52:840-847
Background Laterality in the vertebrate embryo is determined by left–right asymmetric gene expression driven by the flow of extraembryonic fluid across the embryonic node. Defects in these processes cause heterotaxy, the abnormal formation and arra
Autor:
Stephan Ehl, Vered Molho Pessach, Hermann Eibel, Polina Stepensky, Orly Elpeleg, Anne Rensing-Ehl, Ruth Gather, Elke Firat, Ute Fischer, Simon Zenke, Klaus Warnatz, Tim H. Brümmendorf, Gabriele Niedermann, Fabian Beier, Shoshana Revel-Vilk, Schafiq Nabhani, Arndt Borkhardt, Sebastian W. Fuchs, Bärbel Keller, Mirzokhid Rakhmanov
Publikováno v:
Blood. 125:753-761
Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripep
Autor:
Aviram Kogot-Levin, Hamam Ganaiem, Michael Weintraub, Natalia Simanovsky, Orly Elpeleg, Dror Mevorach, Polina Stepensky, Marianne Cowan, Shamir Zenvirt, Avraham Shaag, Arndt Borkhardt, Yackov Berkun, Hani Saleh, Ann Saada, Adi Tabib, Nia J. Bryant, Ute Fischer
Publikováno v:
Blood. 121:5078-5087
Severe congenital neutropenia as well as primary myelofibrosis are rare in infancy. Elucidation of the underlying mechanism is important because it extends our understanding of the more common adult forms of these disorders. Using homozygosity mappin
Autor:
Sylvie, Gerber, Martina G, Ding, Xavier, Gérard, Klaus, Zwicker, Xavier, Zanlonghi, Marlène, Rio, Valérie, Serre, Sylvain, Hanein, Arnold, Munnich, Agnès, Rotig, Lucas, Bianchi, Patrizia, Amati-Bonneau, Orly, Elpeleg, Josseline, Kaplan, Ulrich, Brandt, Jean-Michel, Rozet
Publikováno v:
Journal of medical genetics. 54(5)
Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. How
Autor:
Alexander Rouvinski, Albert Taraboulos, Orly Elpeleg, Avraham Shaag, Asaf Ta-Shma, Memet Aker, Shamir Zenvirt, Shoshana Israel, Michael Weintraub, Saar Hashavia, Zvi Bar-Shavit
Publikováno v:
Journal of Medical Genetics. 49:221-226
Background Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficult
Autor:
Klaus H. Kaestner, Itai Berger, Talia Dor-Wolman, Annick Raas-Rothschild, M. Nadjari, Ziva Ben-Neriah, Avraham Shaag, Shamir Zenvirt, Orly Elpeleg, Ann Saada
Publikováno v:
Molecular Genetics and Metabolism. 104:517-520
The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there
Autor:
Polina Stepensky, Asaf Ta-Shma, Avraham Shaag, Sagui Gavri, Julius Golender, Azaria J.J.T. Rein, Nurit Yaakobi-Simhayoff, Orly Elpeleg, Amiram Nir, Simon Edvardson, Zeev Perles, Nael El-lahham
Publikováno v:
Journal of Medical Genetics. 51:268-270
Background Truncus arteriosus (TA) accounts for ∼1% of congenital heart defects. The aetiology of isolated TA is largely unknown but when occurring as part of a syndrome, it is mostly associated with chromosome 22q11 deletion. Vice versa, the most