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Volumn 8, Issue , 2007, Pages

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: Case report

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; FMR1 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

EID: 34247850779     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-18     Document Type: Article
Times cited : (12)

References (22)
  • 2
    • 21244434753 scopus 로고    scopus 로고
    • Premature ovarian failure
    • 10.1093/humupd/dmi012 15919682
    • Goswami D Conway GS Premature ovarian failure Hum Reprod Update 2005 11 391-410 10.1093/humupd/dmi012 15919682
    • (2005) Hum Reprod Update , vol.11 , pp. 391-410
    • Goswami, D.1    Conway, G.S.2
  • 5
    • 31544483320 scopus 로고    scopus 로고
    • Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction
    • 10.1093/humrep/dei356 16239311
    • Fimiani G Laperuta C Falco G Ventruto V D'Urso M Ursini MV Miano MG Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction Hum Reprod 2006 21 529-35 10.1093/humrep/dei356 16239311
    • (2006) Hum Reprod , vol.21 , pp. 529-535
    • Fimiani, G.1    Laperuta, C.2    Falco, G.3    Ventruto, V.4    D'Urso, M.5    Ursini, M.V.6    Miano, M.G.7
  • 6
    • 0034522229 scopus 로고    scopus 로고
    • Premature ovarian failure in the fragile X syndrome
    • 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J 11449487
    • Sherman SL Premature ovarian failure in the fragile X syndrome Am J Med Genet 2000 97 189-94 10.1002/ 1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J 11449487
    • (2000) Am J Med Genet , vol.97 , pp. 189-194
    • Sherman, S.L.1
  • 8
    • 33645314905 scopus 로고    scopus 로고
    • Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
    • 10.1093/humrep/dei432 16361284
    • Bodega B Bione S Dalpra L Toniolo D Ornaghi F Vegetti W Ginelli E Marozzi A Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation Hum Reprod 2006 21 952-7 10.1093/humrep/dei432 16361284
    • (2006) Hum Reprod , vol.21 , pp. 952-957
    • Bodega, B.1    Bione, S.2    Dalpra, L.3    Toniolo, D.4    Ornaghi, F.5    Vegetti, W.6    Ginelli, E.7    Marozzi, A.8
  • 11
    • 32244436484 scopus 로고    scopus 로고
    • The Fragile X premutation: New insights and clinical consequences
    • 10.1016/j.ejmg.2005.11.001 16473304
    • Van Esch H The Fragile X premutation: New insights and clinical consequences Eur J Med Genet 2006 49 1-8 10.1016/j.ejmg.2005.11.001 16473304
    • (2006) Eur J Med Genet , vol.49 , pp. 1-8
    • Van Esch, H.1
  • 13
    • 33645066659 scopus 로고    scopus 로고
    • Effectiveness of microlaparoscopy in the diagnosis of premature ovarian failure
    • 10.1111/j.1447-0756.2006.00375.x 16594929
    • Abe N Takeuchi H Kikuchi I Kinoshita K Effectiveness of microlaparoscopy in the diagnosis of premature ovarian failure J Obstet Gynaecol Res 2006 32 224-9 10.1111/j.1447-0756.2006.00375.x 16594929
    • (2006) J Obstet Gynaecol Res , vol.32 , pp. 224-229
    • Abe, N.1    Takeuchi, H.2    Kikuchi, I.3    Kinoshita, K.4
  • 14
    • 26944438371 scopus 로고    scopus 로고
    • Evolution versus constitution: Differences in chromosomal inversion
    • 10.1007/s00439-005-1294-z 15886998
    • Schmidt S Claussen U Liehr T Weise A Evolution versus constitution: differences in chromosomal inversion Hum Genet 2005 117 213-9 10.1007/ s00439-005-1294-z 15886998
    • (2005) Hum Genet , vol.117 , pp. 213-219
    • Schmidt, S.1    Claussen, U.2    Liehr, T.3    Weise, A.4
  • 15
    • 0344100090 scopus 로고    scopus 로고
    • Rare fragile sites
    • 10.1159/000072840 14526166
    • Sutherland GR Rare fragile sites Cytogenet Genome Res 2003 100 77-84 10.1159/000072840 14526166
    • (2003) Cytogenet Genome Res , vol.100 , pp. 77-84
    • Sutherland, G.R.1
  • 16
  • 19
    • 0026354010 scopus 로고
    • Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
    • 1757958
    • Rousseau F Heitz D Oberle I Mandel JL Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation J Med Genet 1991 28 830-6 1757958
    • (1991) J Med Genet , vol.28 , pp. 830-836
    • Rousseau, F.1    Heitz, D.2    Oberle, I.3    Mandel, J.L.4
  • 20
    • 0036091566 scopus 로고    scopus 로고
    • Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range
    • 379140 11992259 10.1086/340846
    • Sullivan AK Crawford DC Scott EH Leslie ML Sherman SL Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range Am J Hum Genet 2002 70 1532-44 379140 11992259 10.1086/340846
    • (2002) Am J Hum Genet , vol.70 , pp. 1532-1544
    • Sullivan, A.K.1    Crawford, D.C.2    Scott, E.H.3    Leslie, M.L.4    Sherman, S.L.5
  • 21
    • 33646517073 scopus 로고    scopus 로고
    • X-linked premature ovarian failure: A complex disease
    • 10.1016/j.gde.2006.04.005 16650756
    • Toniolo D X-linked premature ovarian failure: A complex disease Curr Opin Genet Dev 2006 16 293-300 10.1016/j.gde.2006.04.005 16650756
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 293-300
    • Toniolo, D.1
  • 22
    • 11144233958 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
    • 10.1002/ana.20360 15622531
    • Berry-Kravis E Potanos K Weinberg D Zhou L Goetz CG Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation Ann Neurol 2005 57 144-7 10.1002/ana.20360 15622531
    • (2005) Ann Neurol , vol.57 , pp. 144-147
    • Berry-Kravis, E.1    Potanos, K.2    Weinberg, D.3    Zhou, L.4    Goetz, C.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.