BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

293 related articles for article (PubMed ID: 10843173)

  • 1. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.
    Canto P; de la Chesnaye E; López M; Cervantes A; Chávez B; Vilchis F; Reyes E; Ulloa-Aguirre A; Kofman-Alfaro S; Méndez JP
    J Clin Endocrinol Metab; 2000 May; 85(5):1908-11. PubMed ID: 10843173
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 85(6):2287-92. PubMed ID: 10852465
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.
    Domenice S; Yumie Nishi M; Correia Billerbeck AE; Latronico AC; Aparecida Medeiros M; Russell AJ; Vass K; Marino Carvalho F; Costa Frade EM; Prado Arnhold IJ; Bilharinho Mendonca B
    Hum Genet; 1998 Feb; 102(2):213-5. PubMed ID: 9521592
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 80(12):782-90. PubMed ID: 12483463
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 24(4):466-87. PubMed ID: 12920151
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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(7):521-6. PubMed ID: 15155818
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.
    Shahid M; Dhillon VS; Khalil HS; Haque S; Batra S; Husain SA; Looijenga LH
    BMC Med Genet; 2010 Sep; 11():131. PubMed ID: 20849656
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 87(7):3428-32. PubMed ID: 12107262
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
    Okuhara K; Tajima T; Nakae J; Fujieda K
    J Hum Genet; 2000; 45(2):112-4. PubMed ID: 10721678
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Isodicentric Y chromosome in an Ullrich-Turner patient without virilization.
    Morava E; Hermann R; Czakó M; Soltész G; Kosztolányi G
    Am J Med Genet; 2000 Mar; 91(2):99-101. PubMed ID: 10748405
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gonadoblastoma in patients with Ullrich-Turner syndrome.
    Zelaya G; López Marti JM; Marino R; Garcia de Dávila MT; Gallego MS
    Pediatr Dev Pathol; 2015; 18(2):117-21. PubMed ID: 25535833
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: clinical implications and limitations.
    Osipova GR; Karmanov ME; Kozlova SI; Evgrafov OV
    Am J Med Genet; 1998 Apr; 76(4):283-7. PubMed ID: 9545090
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.
    Isidor B; Capito C; Paris F; Baron S; Corradini N; Cabaret B; Leclair MD; Giraud M; Martin-Coignard D; David A; Sultan C; Le Caignec C
    J Clin Endocrinol Metab; 2009 Sep; 94(9):3467-71. PubMed ID: 19531589
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
    Filges I; Kunz C; Miny P; Boesch N; Szinnai G; Wenzel F; Tschudin S; Zumsteg U; Heinimann K
    Fertil Steril; 2011 Oct; 96(4):851-5. PubMed ID: 21868002
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
    Mitchell CL; Harley VR
    Mol Genet Metab; 2002 Nov; 77(3):217-25. PubMed ID: 12409269
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome.
    Shahid M; Dhillon VS; Aslam M; Husain SA
    J Clin Endocrinol Metab; 2005 Apr; 90(4):2429-35. PubMed ID: 15687343
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism.
    Canto P; Galicia N; Söderlund D; Escudero I; Méndez JP
    Eur J Obstet Gynecol Reprod Biol; 2004 Jul; 115(1):55-8. PubMed ID: 15223166
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter).
    Fernandez R; Marchal JA; Sanchez A; Pasaro E
    Hum Genet; 2002 Sep; 111(3):242-6. PubMed ID: 12215836
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
    Wang X; Xue M; Zhao M; He F; Li C; Li X
    Gene; 2018 Apr; 651():143-151. PubMed ID: 29378242
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.