Zobrazeno 1 - 10 of 257 pro vyhledávání: '"YUVAL YARON"'
1
Akademický článek
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Autor: Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman
Publikováno v: Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic disorders are well established, some genes carry pathogenic founder va
Externí odkaz: https://doaj.org/article/98d73e2983624db18de54e83054016dd
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2
Akademický článek
Improving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype
Autor: Mira Malcov, Veronica Gold, Sagit Peleg, Tsvia Frumkin, Foad Azem, Ami Amit, Dalit Ben-Yosef, Yuval Yaron, Adi Reches, Shimi Barda, Sandra E. Kleiman, Leah Yogev, Ron Hauser
Publikováno v: Reproductive Biology and Endocrinology, Vol 15, Iss 1, Pp 1-8 (2017)
Abstract Background The study is aimed to describe a novel strategy that increases the accuracy and reliability of PGD in patients using sperm donation by pre-selecting the donor whose haplotype does not overlap the carrier’s one. Methods A panel o
Externí odkaz: https://doaj.org/article/c6c43c9ad9464b25989a9339396583a8
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3
Akademický článek
Two novel mutations identified in familial cases with Donohue syndrome
Autor: Tzipora C. Falik Zaccai, Limor Kalfon, Aharon Klar, Mordechai Ben Elisha, Haggit Hurvitz, Galina Weingarten, Emelia Chechik, Vered Fleisher Sheffer, Raid Haj Yahya, Gal Meidan, Eva Gross‐Kieselstein, Dvora Bauman, Sylvia Hershkovitz, Yuval Yaron, Avi Orr‐Urtreger, Efrat Wertheimer
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 64-72 (2014)
Abstract Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic f
Externí odkaz: https://doaj.org/article/039df10551044c4eb1c6ec8e2471ca8a
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4
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing
Autor: Alina Kurolap, Adi Mory, Sharon Simchoni, Karina Krajden Haratz, Gustavo Malinger, Roee Birnbaum, Hagit Baris Feldman, Yuval Yaron
Publikováno v: Prenatal Diagnosis. 42:1484-1487
A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy was also positive for several
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc431d24702220e50c4f0f2b54bbde0
https://doi.org/10.1002/pd.6248
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6
International Society for Prenatal Diagnosis Position Statement
Autor: Rossa W.K. Chiu, Joris Vermeesch, Glenn E. Palomaki, Louise Wilkins-Haug, Robert G. Best, Erik A. Sistermans, Neeta L. Vora, Mark D. Pertile, Yuval Yaron
Publikováno v: Prenatal Diagnosis, 41(10), 1222-1232. John Wiley and Sons Ltd
Palomaki, G E, Chiu, R W K, Pertile, M D, Sistermans, E A, Yaron, Y, Vermeesch, J R, Vora, N L, Best, R G & Wilkins-Haug, L 2021, ' International Society for Prenatal Diagnosis Position Statement : cell free (cf)DNA screening for Down syndrome in multiple pregnancies ', Prenatal Diagnosis, vol. 41, no. 10, pp. 1222-1232 . https://doi.org/10.1002/pd.5832
ispartof: PRENATAL DIAGNOSIS vol:41 issue:10 pages:1222-1232 ispartof: location:England status: published
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87cbfece47595c10397145da45e5248c
http://www.scopus.com/inward/record.url?scp=85096651011&partnerID=8YFLogxK
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7
International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients
Autor: Ignatia B. Van den Veyver, Yuval Yaron, Zandra C. Deans
Publikováno v: Prenatal diagnosisREFERENCES.
Prenatal trio exome sequencing (ES) has become integrated into the care for pregnant women when the fetus has structural anomalies. Details regarding optimizing indications for prenatal exome sequencing, its detection rates with different categories
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d58ceb5e049f285b545f7fd68ede55bb
https://pubmed.ncbi.nlm.nih.gov/36221164
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8
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
Autor: Shai E. Elizur, Noam Domniz, Yoram Cohen, Shay Ben-Shachar, Liat Ries Levavi, Hila Raanani, Michal Berkenstadt, Elon Pras, Yuval Yaron, Dana Brabbing Goldstein
Publikováno v: Genetics in Medicine. 23:1023-1027
PURPOSE To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation. METHODS Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4d087fb8cf4a7c3c95c6a9654733230a
https://doi.org/10.1038/s41436-020-01089-3
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9
Economic impact of using maternal plasma cell‐free DNA testing to guide further workup in recurrent pregnancy loss
Autor: Yuval Yaron, Antoni Borrell, Siyang Peng, Sucheta Bhatt
Publikováno v: Prenatal Diagnosis
Objective We have previously demonstrated that maternal‐plasma cell‐free DNA (cfDNA)‐testing can detect chromosomal anomalies in recurrent pregnancy loss (RPL) with 81.8% sensitivity and 90.3% specificity. Here we assess whether this is cost ef
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43fdef9237d6ecb4a410cb9681645ba
https://doi.org/10.1002/pd.5972
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10
Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations
Autor: Revital Kariv, Dvir Dahary, Yuval Yaron, Yael Petel-Galil, Mira Malcov, Guy Rosner
Publikováno v: Genes. 13(8)
Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz–Jeghers (PJS) and PTEN hamartomatous syndromes (PHS). Penetrant mutations in corresponding genes (SMAD4, BMPR1A, STK11, PTEN an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d42ad3221907110716fb776bae04ee39
https://pubmed.ncbi.nlm.nih.gov/36011318
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