Search Results - "Yaron, Yuval"
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The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon
Published in Prenatal diagnosis (01-05-2016)“…Introduction Non‐invasive prenatal testing (NIPT) using cell‐free DNA in maternal blood is a relatively new screening modality for the common trisomies of…”
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Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
Published in Prenatal diagnosis (01-08-2015)Get full text
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Preimplantation genetic screening: results of a worldwide web-based survey
Published in Reproductive biomedicine online (01-12-2017)“…Our objective was to evaluate and characterize the extent and patterns of worldwide usage of preimplantation genetic screening (PGS) among the assisted…”
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Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
Published in Prenatal diagnosis (01-07-2013)Get full text
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Oncofertility: insights from IVF specialists—a worldwide web-based survey analysis
Published in Journal of assisted reproduction and genetics (01-05-2019)“…Purpose This research sought to understand IVF-physicians’ knowledge of, experience with, and attitudes toward fertility preservation for cancer patients…”
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Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
Published in Genetics in medicine (01-06-2021)“…To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation. Women who carry the FMR1 premutation…”
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Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential
Published in Fertility and sterility (01-09-2009)“…Objective To investigate the incidence of embryos' self-correction during preimplantation development in terms of mosaicism and in correlation with its…”
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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Published in Human genomics (28-03-2023)“…The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic…”
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Improving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype
Published in Reproductive biology and endocrinology (26-04-2017)“…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…”
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The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis
Published in Fertility and sterility (01-08-2010)“…Objective To assess ovarian response among carriers of FMR1 premutation who undergo preimplantation genetic diagnosis (PGD). Design Retrospective study…”
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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
Published in European journal of human genetics : EJHG (01-09-2009)“…Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of…”
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Reply: cfDNA testing in recurrent pregnancy loss: a new step in the right way but still raw for the clinical area
Published in Human reproduction (Oxford) (18-02-2021)Get full text
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Editorial for the special issue
Published in European journal of medical genetics (01-02-2020)Get full text
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Elucidation of abnormal fertilization by single-cell analysis with fluorescence in situ hybridization and polymorphic marker analysis
Published in Fertility and sterility (01-03-2009)“…Objective To analyze the genetic composition of oocytes and embryos presenting abnormal fertilization. Design Case report. Setting In vitro fertilization unit…”
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Two novel mutations identified in familial cases with Donohue syndrome
Published in Molecular genetics & genomic medicine (01-01-2014)“…Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin…”
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800 Variation in genetic workup of polyhydramnios: An international and inter-specialty survey
Published in American journal of obstetrics and gynecology (01-01-2024)Get full text
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A founding father of reproductive genetics: Eugene Pergament (1933–2022)
Published in Prenatal diagnosis (01-07-2022)Get full text
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Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology
Published in Obstetrics and gynecology (New York. 1953) (01-11-2015)“…Noninvasive prenatal testing using cell-free DNA in maternal blood for trisomy 21 was introduced in 2011. This technology has continuously evolved with the…”
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