Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 101, Issue 12, 2016, Pages 4541-4550

  Bouilly, Justine ^a   Beau, Isabelle ^a   Barraud, Sara ^a   Bernard, Valérie ^f   Azibi, Kemal ^b   Fagart, Jérôme ^a   Fèvre, Anne ^c   Todeschini, Anne Laure ^d   Veitia, Reiner A ^d   Beldjord, Chérif ^b   Delemer, Brigitte ^c   Dodé, Catherine ^b   Young, Jacques ^e   Binart, Nadine ^a  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b Université Paris Descartes ^*  (France)

^c SERVICE DE DERMATOLOGIE   (France)

^d INSTITUT JACQUES MONOD   (France)

^e BICÊTRE HOSPITAL   (France)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN; PROTEIN; REC8 PROTEIN; SMC1BETA PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADULT; AMENORRHEA; ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HUMAN; INFERTILITY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MONOGENIC DISORDER; NEXT GENERATION SEQUENCING; OVARY INSUFFICIENCY; PHENOTYPE; PREMATURE OVARIAN FAILURE; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; ADOLESCENT; DNA SEQUENCE; GENETICS; GENOTYPE; MUTATION; YOUNG ADULT;

ADOLESCENT; ADULT; FEMALE; GENETIC LOCI; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 85003683063     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2016-2152     Document Type: Article

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