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351 related items for PubMed ID: 1619028

  • 1. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.
    Müller J, Schwartz M, Skakkebaek NE.
    J Clin Endocrinol Metab; 1992 Jul; 75(1):331-3. PubMed ID: 1619028
    [Abstract] [Full Text] [Related]

  • 2. Genetic evidence equating SRY and the testis-determining factor.
    Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M.
    Nature; 1990 Nov 29; 348(6300):448-50. PubMed ID: 2247149
    [Abstract] [Full Text] [Related]

  • 3. 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 29; 10(7):521-6. PubMed ID: 15155818
    [Abstract] [Full Text] [Related]

  • 4. Mutational analysis of SRY in XY females.
    Hawkins JR.
    Hum Mutat; 1993 Jul 29; 2(5):347-50. PubMed ID: 8257986
    [Abstract] [Full Text] [Related]

  • 5. Identification of a novel mutation in the SRY gene in a 46, XY female patient.
    Salehi LB, Scarciolla O, Vanni GF, Nardone AM, Frajese G, Novelli G, Stuppia L.
    Eur J Med Genet; 2006 Jul 29; 49(6):494-8. PubMed ID: 16675314
    [Abstract] [Full Text] [Related]

  • 6. Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.
    Schäffler A, Barth N, Winkler K, Zietz B, Rümmele P, Knüchel R, Schölmerich J, Palitzsch KD.
    J Clin Endocrinol Metab; 2000 Jun 29; 85(6):2287-92. PubMed ID: 10852465
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.
    Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN.
    Hum Genet; 1992 Feb 10; 88(4):471-4. PubMed ID: 1339396
    [Abstract] [Full Text] [Related]

  • 9. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
    Scherer G, Held M, Erdel M, Meschede D, Horst J, Lesniewicz R, Midro AT.
    Cytogenet Cell Genet; 1998 Feb 10; 80(1-4):188-92. PubMed ID: 9678356
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 24(4):466-87. PubMed ID: 12920151
    [Abstract] [Full Text] [Related]

  • 11. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
    Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E.
    J Clin Endocrinol Metab; 2002 Jul 10; 87(7):3428-32. PubMed ID: 12107262
    [Abstract] [Full Text] [Related]

  • 12. XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.
    McElreavy K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F.
    Proc Natl Acad Sci U S A; 1992 Nov 15; 89(22):11016-20. PubMed ID: 1438307
    [Abstract] [Full Text] [Related]

  • 13. XY sex reversal associated with a nonsense mutation in SRY.
    McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M.
    Genomics; 1992 Jul 15; 13(3):838-40. PubMed ID: 1639410
    [Abstract] [Full Text] [Related]

  • 14. A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.
    Ambulkar PS, Waghmare JE, Verma Shivkumar P, Narang P, Pal AK.
    Andrologia; 2021 Jun 15; 53(5):e14011. PubMed ID: 33570214
    [Abstract] [Full Text] [Related]

  • 15. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
    Assumpção JG, Benedetti CE, Maciel-Guerra AT, Guerra G, Baptista MT, Scolfaro MR, de Mello MP.
    J Mol Med (Berl); 2002 Dec 15; 80(12):782-90. PubMed ID: 12483463
    [Abstract] [Full Text] [Related]

  • 16. True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.
    Braun A, Kammerer S, Cleve H, Löhrs U, Schwarz HP, Kuhnle U.
    Am J Hum Genet; 1993 Mar 15; 52(3):578-85. PubMed ID: 8447323
    [Abstract] [Full Text] [Related]

  • 17. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.
    Jäger RJ, Anvret M, Hall K, Scherer G.
    Nature; 1990 Nov 29; 348(6300):452-4. PubMed ID: 2247151
    [Abstract] [Full Text] [Related]

  • 18. Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome.
    Mitsuhashi T, Warita K, Sugawara T, Tabuchi Y, Takasaki I, Kondo T, Hayashi F, Wang ZY, Matsumoto Y, Miki T, Takeuchi Y, Ebina Y, Yamada H, Sakuragi N, Yokoyama T, Nanmori T, Kitagawa H, Kant JA, Hoshi N.
    Congenit Anom (Kyoto); 2010 Jun 29; 50(2):85-94. PubMed ID: 20184645
    [Abstract] [Full Text] [Related]

  • 19. Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.
    Tsutsumi O, Iida T, Taketani Y, Sugase M, Nakahori Y, Nakagome Y.
    Endocr J; 1994 Jun 29; 41(3):281-5. PubMed ID: 7951580
    [Abstract] [Full Text] [Related]

  • 20. Characterization and sequencing of the sex determining region Y gene (Sry) in Akodon (Cricetidae) species with sex reversed females.
    Bianchi NO, Bianchi MS, Bailliet G, de la Chapelle A.
    Chromosoma; 1993 Jun 29; 102(6):389-95. PubMed ID: 7916665
    [Abstract] [Full Text] [Related]

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