Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Nina Ekhilevitch"'
Autor:
Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100828- (2023)
Purpose: Exome sequencing (ES) is a powerful tool that facilitates the diagnosis of patients with rare Mendelian syndromes. In 2018 the Israeli Ministry of Health initiated a national pilot program that funds ES for outpatients with global developmen
Externí odkaz:
https://doaj.org/article/833fdf6b298b43b69d198cbbb5b6c64d
Autor:
Michal Cohen, Emanuele Pignatti, Monica Dines, Adi Mory, Nina Ekhilevitch, Rachel Kolodny, Christa E. Flück, Dov Tiosano
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 16, p 5857 (2020)
Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene (CYP21A2) is a severe life-threatening condition. We present a detailed investigation of the molecular and functional characteristics of a
Externí odkaz:
https://doaj.org/article/91de160bfb334a158f819dd132c522f9
Autor:
Karin Weiss, Alina Kurolap, Tamar Paperna, Adi Mory, Maya Steinberg, Tova Hershkovitz, Nina Ekhilevitch, Hagit N. Baris
Publikováno v:
Rambam Maimonides Medical Journal, Vol 9, Iss 3, p e0018 (2018)
Objective: The growing availability of next-generation sequencing technologies has revolutionized medical genetics, facilitating discovery of causative genes in numerous Mendelian disorders. Nevertheless, there are still many undiagnosed cases. We re
Externí odkaz:
https://doaj.org/article/03b86d61a4954d5c93187820253128e8
Autor:
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters
Publikováno v:
Genetics in Medicine. 24:2464-2474
KLHL20 is part of a CUL3-RING E3 ubiquitin ligase involved in protein ubiquitination. KLHL20 functions as the substrate adaptor that recognizes substrates and mediates the transfer of ubiquitin to the substrates. Although KLHL20 regulates neurite out
Autor:
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
Publikováno v:
European Journal of Human Genetics.
Autor:
Alina German, Lena Sagi-Dain, Irena Kessel, Claudia Gonzaga-Jauregui, Amir Peleg, Alina Kurolap, Nina Ekhilevitch, Tamar Paperna, Hagit Baris Feldman
Publikováno v:
American Journal of Medical Genetics Part A. 185:3161-3166
Tel Hashomer camptodactyly syndrome is a long-known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. Currently, the genetic basis for this disorder is unknown, thus there is a possibilit
Autor:
Karin Weiss, Hagit Baris-Feldman, Gal Larom, Nina Ekhilevitch, Gili Reznick Levi, Tamar Paperna, Vered Ofen Glassner, Nitzan Sharon Swartzman
Publikováno v:
Familial Cancer. 21:289-294
Germline pathogenic variants (PVs) in BRCA1/BRCA2 are well-established risk factors for breast cancer (BC) and/or ovarian cancer (OC). Founder PVs have been described in BRCA1/ BRCA2 in several genetic isolates. The Christian Arab population in the M
Autor:
Rosanna Weksberg, Courtney Kiss, Marta Szybowska, Nina Ekhilevitch, Irina Anselm, David A. Sweetser, Michael Marble, Kristin Lindstrom, Cara Forster, Haley Streff, Renata C. Gallagher, John Pappas, Jessica Nance, Patricia G Wheeler, Melissa A. Walker, Grace Yoon, Carl E. Stafstrom, Weiyi Mu, Mary Kay Koenig, Wei Wang, Jane Juusola, Lauren C. Briere, Eric Muller, Julie S. Cohen, E. Hallie Andrew, Frances A. High, Cheryl Cytrynbaum, Jamie L. Fraser, Joel B. Krier, Hannah Meddaugh, Ali Fatemi, Robert E. Kingston, Kristin W. Barañano, Bridget Ostrem, Maria J. Guillen Sacoto, Ellen Moran, Marvin R. Natowicz, Karin Weiss, Erin Torti, Iva A. Tchasovnikarova, William J. Craigen, Cara Inglese, Andrea Guerin, Matthew J. Elrick, Devon Haynes, Chantal F. Morel, Adam L. Numis
Publikováno v:
Am J Hum Genet
MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal mus
Publikováno v:
European journal of medical genetics. 64(8)
Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene. Developmental delay, feeding difficulties, joint contractures and a high prevalence of autism spectrum disorders are characteristic of the syndr
Autor:
Gili, Reznick Levi, Gal, Larom, Vered, Ofen Glassner, Nina, Ekhilevitch, Nitzan, Sharon Swartzman, Tamar, Paperna, Hagit, Baris-Feldman, Karin, Weiss
Publikováno v:
Familial cancer. 21(3)
Germline pathogenic variants (PVs) in BRCA1/BRCA2 are well-established risk factors for breast cancer (BC) and/or ovarian cancer (OC). Founder PVs have been described in BRCA1/ BRCA2 in several genetic isolates. The Christian Arab population in the M