No evidence of mutations in the follicle-stimulating hormone receptor gene in mexican women with 46,XX pure gonadal dysgenesis

American Journal of Medical Genetics

Volumn 98, Issue 2, 2001, Pages 125-128

  De La Chesnaye, Elsa ^a   Canto, Patricia ^a   Ulloa Aguirre, Alfredo ^b   Méndez, Juan Pablo ^a,c  

^a HOSPITAL DE PEDIATRÍA   (Mexico)

^b INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^c Unidad de Investigación Médica en Biología del Desarrollo   (Mexico)

Author keywords

46,XX pure gonadal dysgenesis; FSH receptor gene; Mutations

Indexed keywords

FOLLITROPIN; FOLLITROPIN RECEPTOR; G PROTEIN COUPLED RECEPTOR;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; DNA POLYMORPHISM; EXON; FEMALE; FINLAND; FRANCE; GENE MUTATION; GENE SEQUENCE; GONADAL DYSGENESIS; HORMONE RECEPTOR INTERACTION; HUMAN; INTRON; KARYOTYPE 46,XX; MEXICO; OVARY FOLLICLE DEVELOPMENT; OVARY FUNCTION; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; REGULATOR GENE; ZYGOSITY;

ADULT; DNA; DNA PRIMERS; EXONS; FEMALE; GONADAL DYSGENESIS; HOMOZYGOTE; HUMANS; MEXICO; MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, FSH; X CHROMOSOME;

EID: 0035863665     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010115)98:2<125::AID-AJMG1020>3.0.CO;2-I     Document Type: Article

References (29)

1. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
2. Clinical features of primary ovarian failure caused by a point mutation in the follicle stimulating hormone receptor gene
3. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor
4. Mutations of the FSH receptor gene are rare in familial and sporadic premature ovarian failure
5. No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure
6. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
7. Impairing follicle stimulating hormone (FSH) signalling in vivo: Targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance
8. Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10
9. Structural organization of the follicle-stimulating hormone receptor gene
10. The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells
11. The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells
12. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
13. A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor
14. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure
15. Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea
16. A recurrent missense mutation in the Kal gene in patients with X-linked Kallmann's syndrome
17. A reliable endocrine test with human menopausal gonadotropins for diagnosis of true hermaphroditism in early infancy
18. Pure gonadal dysgenesis (type XX): Report on a family with four affected sibs
19. Clinical features of young women with hypergonadotropic amenorrhea
20. Pubertal aberrancy etiology and clinical approach
21. Hormonal control of gene expression in the ovary
22. The chromosomal localization of the human follicle-stimulating hormone receptor gene (FSHR) on 2p21-2p16 is similar to that of the luteinizing hormone receptor gene
23. The follicle-stimulating hormone receptor: Biochemistry, molecular biology, physiology, and pathophysiology
24. The testicular receptor for follicle-stimulating hormone: Structure and functional expression of cloned cDNA
25. New natural inactivating mutations of the follicle-stimulating hormone receptor: Correlations between receptor function and pheno-type
26. G protein-coupled receptors and the G protein family
27. The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls
28. Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia