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Journal Abstract Search

139 related items for PubMed ID: 22030050

  • 1. De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.
    Chen CP, Su YN, Lin HH, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Wang W.
    Taiwan J Obstet Gynecol; 2011 Sep; 50(3):339-44. PubMed ID: 22030050
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  • 3. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.
    Kim MK, Seok HH, Kim YS, Chin MU, Sung SR, Lee WS, Shim SH, Yoon TK.
    Gene; 2014 Jan 15; 534(1):54-9. PubMed ID: 24148559
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  • 6. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
    Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.
    Hum Mol Genet; 2006 Jul 15; 15(14):2250-65. PubMed ID: 16774974
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  • 7. Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.
    Bertini V, Ghirri P, Bicocchi MP, Simi P, Valetto A.
    Fertil Steril; 2010 Aug 15; 94(3):1097.e5-8. PubMed ID: 20338563
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  • 8. Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.
    Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, Jones J, Poeta L, Lioi MB, Ursini MV, Miano MG.
    Hum Reprod; 2011 Nov 15; 26(11):3186-96. PubMed ID: 21859812
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  • 10. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.
    Fonseca AC, Bonaldi A, Costa SS, Freitas MR, Kok F, Vianna-Morgante AM.
    Clin Genet; 2013 Feb 15; 83(2):169-74. PubMed ID: 22320281
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  • 12. Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.
    Wood A, Kleis L, Toriello H, Cemeroglu AP.
    Indian Pediatr; 2011 May 15; 48(5):402-4. PubMed ID: 21654007
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  • 14. Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.
    Madrigal I, Fernández-Burriel M, Rodriguez-Revenga L, Cabrera JC, Martí M, Mur A, Milà M.
    J Hum Genet; 2010 Dec 15; 55(12):822-6. PubMed ID: 20861843
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  • 15. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
    Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O.
    BMC Med Genet; 2015 Sep 02; 16():77. PubMed ID: 26329556
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  • 17. Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation.
    Chen CP, Lin CC, Li YC, Hsieh LJ, Lee CC, Wang W.
    Fertil Steril; 2006 Nov 02; 86(5):1514.e1-2. PubMed ID: 17070202
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  • 18. Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3).
    Giacomozzi C, Gullotta F, Federico G, Colapietro I, Nardone AM, Cianfarani S.
    Am J Med Genet A; 2010 May 02; 152A(5):1305-9. PubMed ID: 20425841
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  • 20. Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.
    Palka-Bayard-de-Volo C, De Marco S, Chiavaroli V, Alfonsi M, Calabrese G, Chiarelli F, Mohn A.
    Gene; 2012 Aug 01; 504(1):107-10. PubMed ID: 22583828
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