A new FSHβ mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: Functional characterization and ovarian response to human recombinant FSH

European Journal of Endocrinology

Volumn 162, Issue 3, 2010, Pages 633-641

  Kottler, Marie Laure ^a   Chou, Yen Yin ^c,d   Chabre, Olivier ^b   Richard, Nicolas ^a   Polge, Camille ^b   Brailly Tabard, Sylvie ^e,f,h   Chanson, Philippe ^e,f,g   Guiochon Mantel, Anne ^e,f,h   Huhtaniemi, Ilpo ^c   Young, Jacques ^e,f,g  

^a CAEN UNIVERSITY HOSPITAL   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^e UNIVERSITÉ PARIS SACLAY   (France)

^f INSERM   (France)

^g BICÊTRE HOSPITAL   (France)

^h Laboratoire de Genetique Moleculaire Pharmacogenetique et Hormonologie   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ESTRADIOL; FOLLITROPIN; FOLLITROPIN BETA SUBUNIT; INHIBIN A; INHIBIN B; LUTEINIZING HORMONE; MUELLERIAN INHIBITING FACTOR; PROGESTERONE; INHIBIN; RECOMBINANT PROTEIN;

ADULT; ANIMAL CELL; ARTICLE; BIOASSAY; CASE REPORT; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; ECHOGRAPHY; ENDOMETRIUM; EXPRESSION VECTOR; FEMALE; FOLLITROPIN DEFICIENCY; GENE DELETION; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; HORMONE DEFICIENCY; HORMONE RESPONSE; HUMAN; IMMUNOASSAY; IMMUNOREACTIVITY; LOSS OF FUNCTION MUTATION; LUTEINIZING HORMONE BLOOD LEVEL; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; OVARY; OVULATION; PHENOTYPE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PUBERTY DISORDERS; STOP CODON; ULTRASOUND; WESTERN BLOTTING; AMENORRHEA; ANIMAL; BLOOD; CELL CULTURE; CELL LINE; DRUG EFFECT; GENETICS; HAMSTER; MUTATION; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TREATMENT OUTCOME;

ADULT; AMENORRHEA; ANIMALS; BIOLOGICAL ASSAY; BLOTTING, WESTERN; CELL LINE; CELLS, CULTURED; CRICETINAE; FEMALE; FOLLICLE STIMULATING HORMONE; FOLLICLE STIMULATING HORMONE, BETA SUBUNIT; HUMANS; IMMUNOASSAY; INHIBINS; MUTATION; OVARY; PEDIGREE; RECOMBINANT PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TREATMENT OUTCOME;

EID: 77149162999     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0648     Document Type: Article

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