Zobrazeno 1 - 10
of 23
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:
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:
Noa Ruhrman-Shahar, Maria Domenica Cappellini, Majdolen Istaiti, Uri Hamiel, Hagit Baris Feldman, Shoshana Revel-Vilk, Ian J. Cohen, Alina Kurolap, Claus Niederau, Tova Hershkovitz, Ari Zimran
Publikováno v:
British Journal of Haematology
Autor:
Mireia del Toro, Ariel Gutstein, José A. Barrabés, Hagit Baris Feldman, Gideon Shafir, Ian J. Cohen, Ronen Spiegel, Alina Kurolap
Publikováno v:
Molecular Genetics and Metabolism. 127:138-146
Gaucher disease (GD) is the most prevalent lysosomal disorder caused by GBA mutations and abnormal glucocerebrosidase function, leading to glucocerebrosideaccumulation mainly in the liver, spleen, bone marrow, lungs, and occasionally in the central n
Autor:
Orly Eshach Adiv, Liza Konnikova, Sarah Wall, Scott B. Snapper, Adi Mory, Dror S. Shouval, Ron Shaoul, Alina Kurolap, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Hagit Baris Feldman, Vanessa Mitsialis, Tamar Paperna, M. Steinberg, John D. Overton, Lael Werner, Moran Nunberg, Yaniv Zohar
Publikováno v:
Journal of Clinical Immunology. 39:430-439
This study aimed to characterize the clinical phenotype, genetic basis, and consequent immunological phenotype of a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease, and no evidence of recurrent or severe infections.