about
Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implicationsXX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcriptionFunctional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi originWhy should primary care physicians know about breast cancer genetics?A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriersDouble heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genesA mutation in the nucleoporin-107 gene causes XX gonadal dysgenesisLoss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionMutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations.Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies.Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies.Is uterine serous papillary carcinoma a BRCA1-related disease? Case report and review of the literature.Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1.Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesMutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism.Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral bloodPopulation-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cellsFamilial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish populationCarrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis.p53-dependent control of transactivation of the Pen2 promoter by presenilinsPrenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21.VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycleTODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair.Female sex bias in human embryonic stem cell lines.Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutationsUncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem CellsPrevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.Cancer risks among BRCA1 and BRCA2 mutation carriers.Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.New ISSCR guidelines underscore major principles for responsible translational stem cell research.Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study.Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.
P50
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P50
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Ephrat Levy-Lahad
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Ephrat Levy-Lahad
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P1053
F-2186-2018
P106
P21
P31
P496
0000-0002-2637-1921