The genetic basis of premature ovarian failure;Les bases génétiques de la défaillance ovarienne prématurée

Journal de Gynecologie Obstetrique et Biologie de la Reproduction

Volumn 31, Issue 4, 2002, Pages 333-342

  Monnier Barbarino, P ^a   Forges, T ^a  

^a Maternite Regionale Universitaire   (France)

Author keywords

FMR1 premutation; Genes; Premature ovarian failure

Indexed keywords

ESTROGEN; GONADOTROPIN; GONADOTROPIN RECEPTOR;

AMENORRHEA; FMR1 GENE; GENE; GENE MUTATION; GENETIC LINKAGE; GONADOTROPIN BLOOD LEVEL; HUMAN; OVARY INSUFFICIENCY; REVIEW; TURNER SYNDROME; X CHROMOSOME;

ADULT; ESTROGENS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GONADOTROPINS; HUMANS; NERVE TISSUE PROTEINS; OVARIAN FAILURE, PREMATURE; RNA-BINDING PROTEINS; SEX CHROMOSOME ABERRATIONS; TURNER SYNDROME; X CHROMOSOME;

EID: 0036284770     PISSN: 03682315     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (56)

1. Incidence of premature ovarian failure
2. Premature ovarian failure
3. Premature ovarian failure: An update
4. X chromosome defects and premature ovarian failure
5. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
6. The critical region on the human Xq
7. Evidence for Turner syndrome locus or loci at Xp11.2-Xp22.1
8. Paracentric inversion X (q21.2q24) associated with mental retardation in males and normal ovarian function in females
9. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21
10. Premature ovarian failure and ovarian dysgenesis associated with balanced and unbalanced X-6 translocations, respectively: Implications for the investigation of ovarian failure
11. Balanced X; 22 translocation in a patient with premature ovarian failure
12. Deletion (X) (q26.1-q28) in a proband and her mother: Molecular characterization and phenotypic-karyotypic deductions
13. Molecular and cytogenetic studies of an X; autosome translocation in a patient with premature ovarian failure and review of the literature
14. Premature Ovarian Failure and the FMR1 Gene
15. The Female and the fragile X reviewed
16. Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
17. Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study: Preliminary data
18. Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome
19. Association between idiopathic premature ovarian failure and fragile X premutation
20. Reproductive and menstrual history of female with fragile X expansions
21. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutation
22. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers
23. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
24. Myotonic dystrophy. The role of RNA CUG triplet repeats
25. Microdeletions in FMR2 may be a significant cause of premature ovarian failure
26. Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene
27. Mapping of the POF1 locus and identification of putative genes for premature ovarian failure
28. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: Evidence for conserved function in oogenesis and implications for human sterility
29. Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF)
30. The X chromosome and the ovary
31. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
32. Mutation analysis of the growth differentiation factor - 9 and -9B genes in patients with premature ovarian failure and polycystic ovary syndrome
33. Zfx mutation results in small animal size and reduced germ cell number in male and female mice
34. Splitting the ATM: Distinct repair and checkpoint defects in ataxia-telangiectasia
35. Atm deficiency results in severe meiotic disruption as early as leptonema of prophase I
36. New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness
37. Isolated deficiency of follicle-stimulating hormone: Clinical and laboratory findings
38. Isolated deficiency of follicle-stimulating hormone revisited
39. Primary amenorrhœa and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone
40. Delayed puberty and hypogonadism caused by a mutation in the follicle stimulating hormone β-subunit gene
41. The chromosomal localization of the human follicle-stimulating hormone receptor gene (FSHR) on 2p21-p16 is similar to that of the luteinizing hormone receptor gene
42. Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10
43. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man
44. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
45. The frequency of an inactivating point mutation (566C-T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry
46. A novel phenotype related to partial loss of the human follicle-stimulating hormone receptor
47. New natural inactivating mutations of the follicle-stimulating hormone receptor: Correlations between receptor function and phenotype
48. Naturally occuring mutations of the luteinizing hormone receptor gene affecting reproduction
49. Brief report: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene
50. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46, XX female
51. A novel mutation of the human luteinizing hormone receptor in 46, XX and 46, XX sisters
52. 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
53. Inhibin: A candidate gene for premature ovarian failure
54. Blepharophimosis plus ovarian failure: A likely candidate for a contiguous gene syndrome
55. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
56. The autoimmune regulator (AIRE) is a DNA-binding protein