Zobrazeno 51 - 60
of 202
pro vyhledávání: '"Ephrat Levy-Lahad"'
Autor:
Sari Lieberman, Bella Kaufman, Aviad E. Raz, Ephrat Levy-Lahad, Itzhak Glick, Oded Olsha, Avi Ben-Chetrit, Karen Djemal, Miri Sklair, Ariela Tomer, Sivan Koka, Todd Zalut, Rachel Beeri, Shalom Strano, Hila Fridman, Shlomo Segev, Amnon Lahad
Publikováno v:
Genetics in Medicine. 22:672
Population screening of three common BRCA1/BRCA2 mutations in Ashkenazi Jews (AJ) apparently fulfills screening criteria. We compared streamlined BRCA screening via self-referral with proactive recruitment in medical settings. Unaffected AJ, age ≥2
Autor:
Leonid Kruglyak, Joshua S. Bloom, Adi Ben Yehuda, Ephrat Levy-Lahad, David Zangen, Meru J. Sadhu, Danny Zeevi
Publikováno v:
PLoS Genetics
PLoS genetics, vol 15, iss 7
PLoS Genetics, Vol 15, Iss 7, p e1008082 (2019)
PLoS genetics, vol 15, iss 7
PLoS Genetics, Vol 15, Iss 7, p e1008082 (2019)
Despite intensive study, most of the specific genetic factors that contribute to variation in human height remain undiscovered. We conducted a family-based linkage study of height in a unique cohort of very large nuclear families from a founder (Jewi
Autor:
Amanda Ewart Toland, Andrea Forman, Fergus J. Couch, Julie O. Culver, Diana M. Eccles, William D. Foulkes, Frans B. L. Hogervorst, Claude Houdayer, Ephrat Levy-Lahad, Alvaro N. Monteiro, Susan L. Neuhausen, Sharon E. Plon, Shyam K. Sharan, Amanda B. Spurdle, Csilla Szabo, Lawrence C. Brody, on behalf of the BIC Steering Committee
Publikováno v:
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-8 (2018)
Clinical testing of BRCA1 and BRCA2 began over 20 years ago. With the expiration and overturning of the BRCA patents, limitations on which laboratories could offer commercial testing were lifted. These legal changes occurred approximately the same ti
Autor:
Amanda Ewart, Toland, Andrea, Forman, Fergus J, Couch, Julie O, Culver, Diana M, Eccles, William D, Foulkes, Frans B L, Hogervorst, Claude, Houdayer, Ephrat, Levy-Lahad, Alvaro N, Monteiro, Susan L, Neuhausen, Sharon E, Plon, Shyam K, Sharan, Amanda B, Spurdle, Csilla, Szabo, Lawrence C, Brody
Publikováno v:
NPJ Genomic Medicine
Clinical testing of BRCA1 and BRCA2 began over 20 years ago. With the expiration and overturning of the BRCA patents, limitations on which laboratories could offer commercial testing were lifted. These legal changes occurred approximately the same ti
Autor:
Gary E. Marchant, Janet Rossant, Robin Lovell-Badge, David Baltimore, Alta Charo, Rudolf Jaenisch, Juan Carlos Izpisua Belmonte, Ephrat Levy-Lahad, Duanqing Pei, David W. Beier
Publikováno v:
Cell stem cell. 21(4)
A recent National Academies report articulates a path forward for research, ethics, and governance of clinical applications involving genome editing. In light of recent human embryo editing developments, scientists and stakeholders from all nations s
Autor:
Ephrat Levy-Lahad, Gaya Chicco, Deborah Elstein, Tama Dinur, Ariella Weinberg-Shukron, Paul Renbaum, Yair Herskovitz, Ari Zimran, David A. Zeevi, Fouad Zahdeh, Arndt Rolfs, Gheona Altarescu
Publikováno v:
Journal of Clinical Investigation. 125:3757-3765
BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of m
Autor:
Ephrat Levy-Lahad, Lior Gepstein, Michal Avitzour, Paul Renbaum, Rachel Eiges, Stella Mitrani-Rosenbaum, Ramon Y. Birnbaum, Oshrat Schonberger, Shira Yanovsky-Dagan, Gheona Altarescu, Silvina Epsztejn-Litman, Talia Eldar-Geva
Publikováno v:
Stem Cell Reports, Vol 5, Iss 2, Pp 221-231 (2015)
Stem Cell Reports
Stem Cell Reports
Summary CTG repeat expansion in DMPK, the cause of myotonic dystrophy type 1 (DM1), frequently results in hypermethylation and reduced SIX5 expression. The contribution of hypermethylation to disease pathogenesis and the precise mechanism by which SI
Autor:
Abdulsalam Abu-Libdeh, Lara Kamal, Moien Kanaan, Ephrat Levy-Lahad, Ariella Weinberg-Shukron, Fouad Zhadeh, Aviram Kogot-Levin, Liran Carmel, Sharon Zeligson, Paul Renbaum, David Zangen
Publikováno v:
Journal of Medical Genetics. 52:636-641
BackgroundFamilial glucocorticoid deficiency (FGD) reflects specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Most cases are caused by mutations encoding ACTH-receptor components (MC2R, MR
Autor:
Ephrat Levy-Lahad, Hasan Eideh, David Zangen, Moien Kanaan, Orit Lobel, Dvir Dahary, Amal Abu-Rayyan, Paul Renbaum, Suleyman Gulsuner, Dani Bercovich, Ariella Weinberg-Shukron, Yardena Tenenbaum-Rakover
Publikováno v:
Journal of Medical Genetics. 52:391-399
Background Primary gonadal failure is characterised by primary amenorrhoea or early menopause in females, and oligospermia or azoospermia in males. Variants of the minichromosome maintenance complex component 8 gene (MCM8) have recently been shown to
Autor:
Talia Eldar-Geva, Irit Varshaver, Gheona Altarescu, Tal Gilboa, Ephrat Levy-Lahad, Gilat Chaya Sacks, Judith Guedalia
Publikováno v:
Child Neuropsychology. 22:458-471
The purpose of this pilot study was to evaluate developmental neuropsychological profiles of 4- to 5-year-old children born after Preimplantation Genetic Diagnosis (PGD). Twenty-seven participants received a neurological examination and a battery of