Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Orit, Reish"'
Autor:
Rinat Bernstein-Molho, Eitan Friedman, Noa Ben Baruch, Orit Reish, Rakefet Chen-Shtoyerman, Shani Paluch-Shimon, Yael Laitman, D. Gareth Evans, Ephrat Levy-Lahad, Inbal Kedar, Sara Haim, Yael Goldberg, Rachel Michaelson-Cohen
Publikováno v:
Laitman, Y, Michaelson-cohen, R, Chen-shtoyerman, R, Goldberg, Y, Reish, O, Bernstein-molho, R, Levy-lahad, E, Baruch, N E B, Kedar, I, Evans, D G, Haim, S, Paluch-shimon, S & Friedman, E 2020, ' Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors ', Familial Cancer . https://doi.org/10.1007/s10689-020-00216-y
Germline pathogenic sequence variants (PSVs) in BRCA1 substantially increase risk for developing breast (BC) and ovarian cancer (OvC). Yet, incomplete penetrance suggests that modifier factors affect phenotypic expression of mutant BRCA1 alleles. Ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518ee821778730679b9b2d69568cdf28
https://doi.org/10.1007/s10689-020-00216-y
https://doi.org/10.1007/s10689-020-00216-y
Autor:
Thuy Anh Vu, Sally Ackermann, Andrew E. Fry, Seok Kyu Kang, Shelagh Joss, Katrien Stouffs, Satoko Miyatake, Katherine A. Fawcett, Ethan M. Goldberg, Elena Parrini, Natalie Hauser, Anna E. Jansen, Daniela T. Pilz, Daphna Marom, Adeline Jacquinet, Katherine L. Helbig, Yuh Fujiwara, Natalie Lippa, Orit Reish, Ingo Helbig, Bruria Ben-Zeev, Shraddha Srinivasan, Pradeep Vasudevan, Renzo Guerrini, Careni Spencer, Lieve Verstraete, Agnieszka Charzewska, Christopher H. Thompson, Jérôme Clatot, Jennifer A. Kearney, David R. FitzPatrick, Haim Bassan, Victoria Harrison, Naomichi Matsumoto, Tariq Zaman, Dorota Hoffman-Zacharska
Publikováno v:
Ann Neurol
Objective\ud \ud Pathogenic variants in SCN3A , encoding the voltage‐gated sodium channel subunit Nav1.3, cause severe childhood‐onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700d035773de953f5d73c7bf4583cbc9
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdf
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdf
Autor:
Yael, Laitman, Rachel, Michaelson-Cohen, Rakefet, Chen-Shtoyerman, Yael, Goldberg, Orit, Reish, Rinat, Bernstein-Molho, Ephrat, Levy-Lahad, Noa Ephrat Ben, Baruch, Inbal, Kedar, D Gareth, Evans, Sara, Haim, Shani, Paluch-Shimon, Eitan, Friedman
Publikováno v:
Familial cancer. 20(3)
Germline pathogenic sequence variants (PSVs) in BRCA1 substantially increase risk for developing breast (BC) and ovarian cancer (OvC). Yet, incomplete penetrance suggests that modifier factors affect phenotypic expression of mutant BRCA1 alleles. Ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::743b26b3edac48b60cc8cb063876bc7a
https://pubmed.ncbi.nlm.nih.gov/33165727
https://pubmed.ncbi.nlm.nih.gov/33165727
Publikováno v:
Genetics in Medicine. 24:S302
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fed9957c1f05539508191d7323540687
https://doi.org/10.1016/j.gim.2022.01.608
https://doi.org/10.1016/j.gim.2022.01.608
Autor:
Noa Ephrat Ben‐Baruch, Rakefet Chen-Shtoyerman, Ephrat Levy Lahad, Pnina Mor, Jacob Korach, Rinat Bernstein-Molho, Sagi Josefsberg Ben-Yehoshua, Rachel Michaelson-Cohen, Lital Keinan-Boker, Tamar Perri, Orit Reish, Yael Laitman, Einat Levi, Ora Rosengarten, Barbara Silverman, Eitan Friedman
Publikováno v:
Cancer. 125:698-703
BACKGROUND BRCA1/2 mutation carriers have an increased risk of developing ovarian cancer, leading to the recommendation of risk-reducing salpingo-oophorectomy (RRSO) at 35-40 years of age. The role, if any, that BRCA mutations play in conferring uter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c0d894792a73cbbbdabd126bdcc06d
https://doi.org/10.1002/cncr.31842
https://doi.org/10.1002/cncr.31842
Autor:
Hagit Schayek, Sara Haim, Rinat Bernstein-Molho, Eitan Friedman, Orit Reish, Jamal Zidan, Shira Lotan, Yael Laitman
Publikováno v:
Breast Cancer Research and Treatment. 167:697-702
Hereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes. A few recurring mutations in these genes were reported in ethnically diverse Jewish populations. Since 2013, most oncogenetic laboratories in Is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71af5d06a7360e03a782c80eb4d74c57
https://doi.org/10.1007/s10549-017-4551-7
https://doi.org/10.1007/s10549-017-4551-7
Autor:
Todd E. Scheetz, Ruti Parvari, Yehudah Roth, Lilach Benyamini, Val C. Sheffield, Orit Reish, Huda Mussaffi, Liam Aspit, Sylvie Polak-Charcon, Tatiana Baboushkin, Arielle Zouella
Publikováno v:
Human Mutation. 37:727-731
We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7c5453e3aa92aaaf3e69d465c87514b
https://doi.org/10.1002/humu.22998
https://doi.org/10.1002/humu.22998
Akademický článek
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Autor:
Miriam Regev, Emad Muhammad, Orit Reish, Yusuke Ohno, Todd E. Scheetz, Lilach Benyamini, Yakov Fellig, Ruti Parvari, Val C. Sheffield, Charles Searby, Adam P. DeLuca, Akio Kihara
Publikováno v:
Human Molecular Genetics
Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::487fafe384199f2dceb9efd2327d044f
http://europepmc.org/articles/PMC3842179
http://europepmc.org/articles/PMC3842179
Autor:
Michal, Feingold-Zadok, David, Chitayat, Karen, Chong, Marie, Injeyan, Patrick, Shannon, Daphne, Chapmann, Ron, Maymon, Nir, Pillar, Orit, Reish
Publikováno v:
Prenatal diagnosis. 37(2)
We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene.We pathologically assessed seven cases from t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ecd2b1ed319f78d9e46dc3646d1499ff
https://pubmed.ncbi.nlm.nih.gov/27933661
https://pubmed.ncbi.nlm.nih.gov/27933661