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  • 1-10 ل  105 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Subject : [sdv.mhep.geo]life sciences [q-bio]/human health and pathology/gynecology and obstetrics
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Academic Journal

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

Subjects: genetic predisposition to breast and ovarian cancer; cancer risk estimate; multigene panels

  • Source: ISSN: 2072-6694.

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Academic Journal

Alternative splicing in normal and pathological human placentas is correlated to genetic variants

Subjects: [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

  • Source: ISSN: 0340-6717.

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Academic Journal

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families

Subjects: BRCA1; BRCA2; Breast cancer

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03648649 ; Genes, 2021, 12 (7), pp.1100. ⟨10.3390/genes12071100⟩.

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Academic Journal

Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies

Subjects: Trophoblastic disease; Recurrent hydatidiform mole; Oocyte donation

  • Source: ISSN: 1058-0468.

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Academic Journal

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Subjects: VeriSeq NIPT Solution v2; atypical chromosomal anomalies; deletion

  • Source: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.sorbonne-universite.fr/hal-02940475 ; Journal of Clinical Medicine, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩.

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Academic Journal

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

Subjects: BRCA2; mutation; cancer

  • Source: ISSN: 0022-2593.

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Academic Journal

Clinical Cancer Genetics : a guide for the pathologist ; Les trois temps de la prise en charge oncogénétique : la consultation, l’analyse en laboratoire et le suivi personnalisé

Subjects: pathology; genetic susceptibility to cancer; genetic counseling

  • Source: ISSN: 0242-6498 ; Annales de Pathologie ; https://hal.sorbonne-universite.fr/hal-02791374 ; Annales de Pathologie, 2020, 40 (2), pp.63-69. ⟨10.1016/j.annpat.2020.01.003⟩.

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Academic Journal

Severe gynaecological involvement in Proteus Syndrome

Subjects: AKT1 mutation; Gynaecological involvement; Proteus syndrome

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://u-bourgogne.hal.science/hal-01862400 ; European Journal of Medical

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Academic Journal

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics

  • Source: ISSN: 0197-3851.

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Academic Journal

A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks

Subjects: Exon skipping; Female infertility; MEIOB

  • Source: ISSN: 2352-3964 ; EBioMedicine ; https://hal.science/hal-04244500 ; EBioMedicine, 2019, 42, pp.524-531. ⟨10.1016/j.ebiom.2019.03.075⟩.

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  • 1-10 ل  105 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""