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Journal Abstract Search


187 related items for PubMed ID: 16097007

  • 1. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
    Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.
    Am J Med Genet A; 2005 Sep 15; 138(1):11-7. PubMed ID: 16097007
    [Abstract] [Full Text] [Related]

  • 2. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ.
    J Med Genet; 2004 Sep 15; 41(9):669-78. PubMed ID: 15342697
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  • 3. Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.
    Chen CP, Chen CY, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Town DD, Lee MS, Yang CW, Wang W.
    Taiwan J Obstet Gynecol; 2016 Oct 15; 55(5):705-711. PubMed ID: 27751420
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  • 4. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.
    Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD.
    Am J Med Genet A; 2005 Jun 15; 135(3):308-13. PubMed ID: 15887264
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  • 5. Duplication of the short arm of the X chromosome in mother and daughter.
    Tuck-Muller CM, Martinez JE, Batista DA, Kearns WG, Wertelecki W.
    Hum Genet; 1993 May 15; 91(4):395-400. PubMed ID: 8500796
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  • 6. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.
    Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF.
    Hum Genet; 1997 Aug 15; 100(2):256-61. PubMed ID: 9254860
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  • 7. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome.
    Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK.
    Hum Genet; 1999 Sep 15; 105(3):273-80. PubMed ID: 10987657
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  • 8. De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype.
    Tihy F, Lemyre E, Lemieux N, Dallaire L.
    Am J Med Genet; 1999 Dec 03; 87(4):302-5. PubMed ID: 10588834
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  • 9. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
    Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S.
    Am J Hum Genet; 2002 Dec 03; 71(6):1450-5. PubMed ID: 12428212
    [Abstract] [Full Text] [Related]

  • 10. Distal Xq duplication and functional Xq disomy.
    Sanlaville D, Schluth-Bolard C, Turleau C.
    Orphanet J Rare Dis; 2009 Feb 20; 4():4. PubMed ID: 19232094
    [Abstract] [Full Text] [Related]

  • 11. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.
    Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.
    Am J Med Genet A; 2007 Dec 01; 143A(23):2785-95. PubMed ID: 17994562
    [Abstract] [Full Text] [Related]

  • 12. Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.
    Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H.
    Am J Med Genet A; 2008 May 15; 146A(10):1325-9. PubMed ID: 18412111
    [Abstract] [Full Text] [Related]

  • 13. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.
    Armstrong L, McGowan-Jordan J, Brierley K, Allanson JE.
    Am J Med Genet A; 2003 Jan 01; 116A(1):71-6. PubMed ID: 12476455
    [Abstract] [Full Text] [Related]

  • 14. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
    Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT.
    Am J Hum Genet; 2005 May 01; 76(5):833-49. PubMed ID: 15800844
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