Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Hagit Baris Feldman"'
Autor:
Pramod K. Mistry, Evgueniy Hadjiev, Sebastiaan J.M. Gaemers, Suma P. Shankar, Marwan Ghosn, Sarit Assouline, Andres Ortega, Heather Lau, Seymour Packman, Sumita Danda, Elena Lukina, M. Judith Peterschmitt, Hagit Baris Feldman, Milan Petakov, Hadhami Ben Turkia, Meredith C. Foster, Atul Mehta, Manisha Balwani
Publikováno v:
American Journal of Hematology
Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher disease type 1, eliglustat‐treated patients had statistically sign
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:
Sivan Shamai, David Hagin, Ophira Salomon, Mordechai Shohat, Sigal Fishman, Hagit Baris Feldman, Alina Kurolap, Tal Freund, Eli Brazowski, Dror Lahav
Publikováno v:
Journal of Clinical Immunology. 41:477-481
Autor:
Adi Mory, R Wollstein, Tamar Paperna, G Larom-Khan, Vardit Adir, Hagit Baris Feldman, Alina Kurolap, Lena Sagi-Dain, Noam Adir, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Amir Peleg
Publikováno v:
Clinical Dysmorphology. 30:71-75
Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the ca
Autor:
Raanan Raz, Sagiv Shifman, Gal Meiri, Chen Schtaierman, Tali Gev, Simone G. Shamay-Tsoory, Hagit Baris Feldman, Nirit Bauminger-Zviely, Michal Faroy, Adi Aran, Doron Gothelf, Daphna Marom, Nadav Davidovitch, Illana Gozes, Anat Zaidman Zait, Dalit Ben Yosef, Orit Stolar, Raz Gross, Michal Begin, Yoram Bonneh, Yair Sadaka, Florina Uzefovsky, Ditza A. Zachor, Stephen Z. Levine, Hava Golan, Idan Menashe, Hagit Flusser, Esther Ben-Itzchak, Sandra Israel-Yaacov, Cory Shulman, Arad Kodesh, Lidia V. Gabis, Eynat Gal, Alal Eran, Ayelet Arazi, Ilan Dinstein, Ofer Golan, Analya Michaelovski, Judah Koller, Aviva Mimouni Bloch, Bat-Sheva Hadad, Irit Mor Snir, Eitan Bachmat, Michael Davidovitch, Evan Elliott
Publikováno v:
Journal of Molecular Neuroscience. 70:1303-1312
Autor:
Adi Mory, Reuven Kedar, Claudia Gonzaga-Jauregui, Amir Peleg, Alina Kurolap, Tamar Paperna, Hagit Baris Feldman, Lena Sagi-Dain, Anat Ilivitzki
Publikováno v:
American Journal of Medical Genetics Part A. 182:205-212
Agenesis of the corpus callosum (ACC) is a common prenatally-detected brain anomaly. Recently, an association between mutations in the DCC Netrin 1 receptor (DCC) gene and ACC, with or without mirror movements, has been demonstrated. In this manuscri
Publikováno v:
Rambam Maimonides Medical Journal
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leadin
Autor:
Shirley Pollack, Israel Eisenstein, Adi Mory, Tamar Paperna, Ayala Ofir, Hagit Baris-Feldman, Karin Weiss, Nóra Veszeli, Dorottya Csuka, Revital Shemer, Fabian Glaser, Zoltán Prohászka, Daniella Magen
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, Vol 12 (2021)
Frontiers in Immunology, Vol 12 (2021)
Background and ObjectivesAtypical hemolytic uremic syndrome (aHUS) is mostly attributed to dysregulation of the alternative complement pathway (ACP) secondary to disease-causing variants in complement components or regulatory proteins. Hereditary aHU
Autor:
Maria J. Guillen Sacoto, Jane A. Hurst, Yue Huang, Susan M. White, Michael E. March, Daniela Choukair, Qin Wang, Dana Brown, Matthew S. Kayser, Hane Lee, Tiong Yang Tan, Kristin Lindstrom, Hagit Baris Feldman, Dov Tiosano, Dong Li, Ashita Dava-Wala, Mariam Mathew, Matthew A. Deardorff, Katheryn Grand, Amy Siemon, Lynn Pais, Elizabeth J. Bhoj, Theresa Brunet, Julian A. Martinez-Agosto, Hakon Hakonarson, Naihua N. Gong, Kirsty McWalter, Claudia Gonzaga-Jauregui, Theresa A. Grebe, John Christodoulou, Melanie Brugger, Dennis Bartholomew, Yuanquan Song, Małgorzata J.M. Nowaczyk, Nikolas Boy, Emma Wakeling, Alina Kurolap, Eva M. C. Schwaibold
Publikováno v:
Science Advances
Exome sequencing and Drosophila modeling revealed variants in SMARCA5 as a novel cause of a neurodevelopmental disorder.
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However,
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However,