13 research outputs found
Characterization of human follicle-stimulating hormone binding to human granulosa cells by an immunoenzymological method
No full textInternational audienc
Characterization of human follicle-stimulating hormone binding to human granulosa cells by an immunoenzymological method
No full textInternational audienc
Effet de la congelation sur la stabilite de la chromatine des spermatozoides humains : etude cytophotometrique.
No full textNational audienc
Effet de la congelation sur la stabilite de la chromatine des spermatozoides humains : etude cytophotometrique.
No full textNational audienc
Effet de la congelation sur la stabilite de la chromatine des spermatozoides humains : etude cytophotometrique.
No full textNational audienc
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
No full textThe putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
No full textIn type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat
Normogonadotropic primary amenorrhea in a growth hormone-deficient woman with ectopic posterior pituitary: Gonadotropin pulsatility and follicle-stimulating hormone bioactivity
No full textLarge-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling
No full text
