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Journal Abstract Search

85 related items for PubMed ID: 8954063

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  • 3. [XY type gonadal dysgenesis, trisomy X and variants].
    Kikuchi I, Takeuchi H, Kinoshita K.
    Nihon Rinsho; 2004 Feb; 62(2):309-12. PubMed ID: 14968537
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  • 8. A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.
    Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S.
    Am J Hum Genet; 1998 Sep; 63(3):794-802. PubMed ID: 9718346
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  • 9. A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
    Helszer Z, Dmochowska A, Szemraj J, Słowikowska-Hilczer J, Wieczorek M, Jędrzejczyk S, Kałużewski B.
    Gene; 2013 Sep 10; 526(2):467-70. PubMed ID: 23624391
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  • 11. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
    Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S.
    J Med Genet; 2011 Dec 10; 48(12):825-30. PubMed ID: 22051515
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  • 12. Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation.
    Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA.
    Mol Hum Reprod; 2004 Jul 10; 10(7):521-6. PubMed ID: 15155818
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  • 13. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.
    Vinci G, Chantot-Bastaraud S, El Houate B, Lortat-Jacob S, Brauner R, McElreavey K.
    Mol Hum Reprod; 2007 Sep 10; 13(9):685-9. PubMed ID: 17644778
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  • 15. XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.
    McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL.
    Am J Med Genet; 1997 Dec 19; 73(3):321-6. PubMed ID: 9415692
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  • 18. Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis.
    Ottolenghi C, Moreira-Filho C, Mendonça BB, Barbieri M, Fellous M, Berkovitz GD, McElreavey K.
    J Clin Endocrinol Metab; 2001 Jun 19; 86(6):2465-9. PubMed ID: 11397841
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  • 19. The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].
    Harley VR, Clarkson MJ, Argentaro A.
    Endocr Rev; 2003 Aug 19; 24(4):466-87. PubMed ID: 12920151
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  • 20. Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis.
    Fuqua JS, McLaughlin J, Perlman EJ, Berkovitz GD.
    J Clin Endocrinol Metab; 1997 Feb 19; 82(2):701-2. PubMed ID: 9024280
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