Recurrent triploidy due to a failure to complete maternal meiosis II: Wholeexome sequencing reveals candidate variants

Molecular Human Reproduction

Volumn 21, Issue 4, 2014, Pages 339-346

  Filges, I ^a,b,c   Manokhina, I ^a,b   Penaherrera M S ^a,b   McFadden, D E ^a,b   Louie, K ^a,b   Nosova, E ^a   Friedman, J M ^a,b   Robinson, W P ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

Meiosis; Oogenesis; Triploidy; Whole exome sequencing

Indexed keywords

CRYOPYRIN; DNA; NLRP7 PROTEIN; PHOSPHOLIPASE C DELTA; PHOSPHOLIPASE C DELTA4; UNCLASSIFIED DRUG; OXYSTEROL BINDING PROTEIN; PLCD4 PROTEIN, HUMAN; STEROID RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CENTROMERE; FEMALE; FERTILIZATION; GENE SEQUENCE; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MEIOSIS; OOCYTE MATURATION; PHENOTYPE; POLAR BODY; PRIORITY JOURNAL; RECURRENT DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; TRIPLOIDY; ABORTION, HABITUAL; CHROMOSOME ABERRATION; DNA SEQUENCE; EXOME; GENE EXPRESSION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOLOGY; PEDIGREE; PREGNANCY;

ABNORMAL KARYOTYPE; ABORTION, HABITUAL; ADULT; EXOME; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MEIOSIS; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOLIPASE C DELTA; PREGNANCY; RECEPTORS, STEROID; SEQUENCE ANALYSIS, DNA; TRIPLOIDY;

EID: 84926463606     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gau112     Document Type: Article

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