Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Rachel Beeri"'
Autor:
Mary Claire King, Adi Aran, Tom Walsh, Kouichi Funato, Ephrat Levy-Lahad, Haruka Okai, Tzvia Rosen, Hiroto Denda, Hiroki Nakamura, Paul Renbaum, Sharon Zeligson, Katsuki Eto, Suleyman Gulsuner, Reeval Segel, Rachel Beeri
Publikováno v:
neurogenetics. 21:259-267
Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human cells is unknown. Studies of yeast arv1 null mutants indicate that it is i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b836c2ae0f5cd075baf3991f69273846
https://doi.org/10.1007/s10048-020-00615-4
https://doi.org/10.1007/s10048-020-00615-4
Autor:
Rachel Beeri, Ohad Atia, Esther Orlanski Meyer, Eyal Shteyer, Pinhas Frank Renbaum, Oren Ledder, Ibrahim Shamasneh, Yelana Rachmen, Dan Turner, Raffi Lev-Tzion, Tehila Ben-Moshe
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 70(6)
Objectives Use of thiopurines for inflammatory bowel diseases (IBDs) is declining in some parts of the world. We aimed to explore outcomes of thiopurines and predictors of response in a real-world prospective cohort of children with dose optimization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3afc1d7b8eded3a4f53cc2d05d143c
https://pubmed.ncbi.nlm.nih.gov/32443026
https://pubmed.ncbi.nlm.nih.gov/32443026
Autor:
Sari Lieberman, Ariela Tomer, Avi Ben-Chetrit, Oded Olsha, Shalom Strano, Rachel Beeri, Sivan Koka, Hila Fridman, Karen Djemal, Itzhak Glick, Todd Zalut, Shlomo Segev, Miri Sklair, Bella Kaufman, Amnon Lahad, Aviad Raz, Ephrat Levy-Lahad
Publikováno v:
Genetics in Medicine. 19:754-762
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 ≥25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b15d28a69d43547dae2b18a3299d39d
https://doi.org/10.1038/gim.2016.182
https://doi.org/10.1038/gim.2016.182
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4dea81e3e72bad54ec147f83e4485366
https://doi.org/10.1038/s41436-019-0734-4
https://doi.org/10.1038/s41436-019-0734-4
Autor:
Tom Walsh, Paul Renbaum, Bassam Abu Libdeh, Pedro-Filipe Teixeira, Dario Brunetti, Reeval Segel, Rachel Beeri, Yeshaya Langer, Fouad Zahdeh, Ephrat Levy-Lahad, Suleyman Gulsuner, Enrico Baruffini, Ariella Weinberg-Shukron, Massimo Zeviani, Maher Shahrour, Roberta Ruotolo, Imad Dweikat, Elzbieta Glaser, Mary Claire King, Sharon Zeligson, Adi Aran
ObjectiveTo identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy.MethodsIdentification of the underlying mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abc59b9bb406afd3040708c895309a3
Autor:
Gheona Altarescu, Avraham Steinberg, Talia Eldar-Geva, Ephrat Levy-Lahad, Paul Renbaum, Rachel Beeri, Galit Lazer-Derbeko
Publikováno v:
Reproductive BioMedicine Online. 31:706-710
New technologies are revealing genetic variants of unknown significance (VUS), raising questions about the indications that call for preimplanation genetic diagnosis (PGD). Two couples requesting PGD for VUS are presented. The first couple requested
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68bf11ad629855cda80a2aa105679d4e
https://doi.org/10.1016/j.rbmo.2015.07.002
https://doi.org/10.1016/j.rbmo.2015.07.002
Autor:
Eran Goldin, Yael Goldberg, Ephrat Levy-Lahad, Nitzan Sharon, Tomer Adar, Liat Ben Avi, Rachel Beeri, Colin Pritchard, Hagit N. Baris, Tom Walsh, Mary Claire King, Elizabeth E. Half, Ian Tomlinson, Israela Lerer, Menachem Schechter, Brian H. Shirts, Sari Lieberman, Tamar Peretz
Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a non-coding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3daee138313fef313f29e471fa934350
https://ora.ox.ac.uk/objects/uuid:2c10a178-5823-4f62-8ce8-e2291edd70d0
https://ora.ox.ac.uk/objects/uuid:2c10a178-5823-4f62-8ce8-e2291edd70d0
Autor:
Yair Herskovitz, David A. Zeevi, Rachel Beeri, Deborah Elstein, Elinor Hakam-Spector, Gheona Altarescu
Publikováno v:
Gene. 549:275-279
Persons with unexplained early-onset stroke have been targeted for screening surveys for Fabry disease, the most common of the three X-linked lysosomal disorders, because Fabry patients with stroke are more likely to have the life-threatening progres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed11df797d4e0493f0da627d281a449b
https://doi.org/10.1016/j.gene.2014.08.004
https://doi.org/10.1016/j.gene.2014.08.004
Autor:
S. Kirshberg, Tzvia Rosen, R. Granit, David A. Zeevi, Rachel Beeri, Sharon Zeligson, P. Renbaum, Gheona Altarescu, S. Shaviv, T. Dror
Publikováno v:
Reproductive BioMedicine Online. 39:e57
Introduction Low pass high throughput sequencing has become a choice method for obtaining chromosome copy number information from biopsies of pre-implantation embryos. In addition to large copy number variants (CNVs) in human embryo samples, data set
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::898055b2ba7f66f4d10d332d3e076fe5
https://doi.org/10.1016/j.rbmo.2019.04.103
https://doi.org/10.1016/j.rbmo.2019.04.103
Autor:
Yael Goldberg, Elizabet Half, Ephrat Levy-Lahad, Lina Basel-Salmon, Lior H. Katz, Zohar Levy, Mahmud Mansur, Shlomi Cohen, Menachem Schechter, Ariela Tomer, Eliahu Golomb, Tamar Peretz, Tom Walsh, Rachel Beeri, Rachel Berger, Sari Lieberman, Harold Jacob, Mary Claire King, Suleyman Gulsuner, Dan Keret, Inbal Kedar
Publikováno v:
Clinical and Translational Gastroenterology
Juvenile polyposis syndrome (JPS, OMIM 174900) is a rare autosomal dominant disorder, affecting between 1 in 100,000 and 1 in 160,000 (1), characterized by hamartomatous polyps and increased risk of gastrointestinal (GI) cancer. JPS is diagnosed clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d673a914da2de30d7ebb2a59b22218
https://doi.org/10.14309/ctg.0000000000000054
https://doi.org/10.14309/ctg.0000000000000054