Search Results - "Malcov, Mira"
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Heterozygous APC germline mutations impart predisposition to colorectal cancer
Published in Scientific reports (04-03-2021)“…Familial adenomatous polyposis (FAP) is an inherited syndrome caused by a heterozygous adenomatous polyposis coli (APC) germline mutation, associated with a…”
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2
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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3
A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure
Published in HGG advances (13-07-2023)“…Quantitative and qualitative spermatogenic impairments are major causes of men’s infertility. Although in vitro fertilization (IVF) is effective, some couples…”
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4
Effects of laser polar-body biopsy on embryo quality
Published in Fertility and sterility (01-05-2012)“…Objective To evaluate the effect of laser polar-body biopsy (PBB) for preimplantation genetic diagnosis on embryo quality. Study design Retrospective…”
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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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Time-lapse imaging reveals delayed development of embryos carrying unbalanced chromosomal translocations
Published in Journal of assisted reproduction and genetics (12-11-2018)Get full text
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8
Genomic Analysis of hESC Pedigrees Identifies De Novo Mutations and Enables Determination of the Timing and Origin of Mutational Events
Published in Cell reports (Cambridge) (26-09-2013)“…Given the association between mutational load and cancer, the observation that genetic aberrations are frequently found in human pluripotent stem cells (hPSCs)…”
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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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The impact of fragile X premutation carrier status on embryo morphokinetic development
Published in Reproductive biomedicine online (01-11-2022)“…Does inheritance of the fragile X mental retardation 1 (FMR1) premutation allele affect embryo morphokinetic development? A retrospective cohort analysis of…”
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The ovarian response in fragile X patients and premutation carriers undergoing IVF–PGD: reappraisal
Published in Human reproduction (Oxford) (01-07-2017)“…Abstract STUDY QUESTION What is the association between the ovarian response and the number of CGG repeats among full mutation and premutation carriers of…”
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12
Fertility preservation and PGT-M in women with familial adenomatous polyposis-associated desmoid tumours
Published in Reproductive biomedicine online (01-10-2021)“…Is ovarian stimulation and pregnancy in women with familial adenomatous polyposis (FAP)-associated desmoid tumours safe? The study included women with…”
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A clinical predictive model for live birth in women of advanced age undergoing PGT cycles
Published in Archives of gynecology and obstetrics (01-03-2024)“…Purpose The trend of delaying childbirth has resulted in a growing number of advanced-aged women who are opting for preimplantation genetic testing (PGT) to…”
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The association between a carrier state of FMR1 premutation and numeric sex chromosome variations
Published in Journal of assisted reproduction and genetics (01-03-2023)“…Purpose Women carriers of FMR1 premutation are at increased risk of early ovarian dysfunction and even premature ovarian insufficiency. The aim of this study…”
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Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
Published in Cell stem cell (01-11-2007)“…We report on the establishment of a human embryonic stem cell (HESC) line from a preimplantation fragile X-affected embryo and demonstrate its value as an…”
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Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations
Published in Genes (08-08-2022)“…Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz–Jeghers (PJS) and PTEN hamartomatous…”
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Obstetric and neonatal outcomes of pregnancies conceived after preimplantation genetic diagnosis: cohort study and meta-analysis
Published in Reproductive biomedicine online (01-08-2017)“…Abstract Preimplantation genetic diagnosis (PGD) may pose risks to pregnancy outcome owing to the invasiveness of the biopsy procedure. This study compares…”
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A decision tree model for predicting live birth in FMR1 premutation carriers undergoing preimplantation genetic testing for monogenic/single gene defects
Published in Reproductive biomedicine online (01-10-2021)“…Can patient selection for successful preimplantation genetic testing for women who are fragile X (FMR1) premutation carriers be optimized using a decision tree…”
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Time-lapse imaging reveals delayed development of embryos carrying unbalanced chromosomal translocations
Published in Journal of assisted reproduction and genetics (01-02-2019)“…Purpose The purpose of the study was to compare the morphokinetic parameters of embryos carrying balanced chromosomal translocations with those carrying…”
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Developmental Study of Fragile X Syndrome Using Human Embryonic Stem Cells Derived from Preimplantation Genetically Diagnosed Embryos
Published in Cell stem cell (01-11-2007)Get full text
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