BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 19513096)

  • 1. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.
    Hersmus R; de Leeuw BH; Stoop H; Bernard P; van Doorn HC; Brüggenwirth HT; Drop SL; Oosterhuis JW; Harley VR; Looijenga LH
    Eur J Hum Genet; 2009 Dec; 17(12):1642-9. PubMed ID: 19513096
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
    Hersmus R; van der Zwan YG; Stoop H; Bernard P; Sreenivasan R; Oosterhuis JW; Brüggenwirth HT; de Boer S; White S; Wolffenbuttel KP; Alders M; McElreavy K; Drop SL; Harley VR; Looijenga LH
    PLoS One; 2012; 7(7):e40858. PubMed ID: 22815844
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report.
    Xie C; Cai J; Li N; Hua P; Yang Z; Yu X; Tang D; Hu Y; Liu Q
    BMC Pregnancy Childbirth; 2023 Jan; 23(1):58. PubMed ID: 36694125
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.
    Vogt PH; Besikoglu B; Bettendorf M; Frank-Herrmann P; Zimmer J; Bender U; Knauer-Fischer S; Choukair D; Sinn P; Lau YC; Heidemann PH; Strowitzki T
    Hum Reprod; 2019 Apr; 34(4):770-779. PubMed ID: 30753444
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
    Andonova S; Robeva R; Sirakov M; Mainhard K; Tomova A; Ledig S; Kumanov P; Savov A
    Sex Dev; 2015; 9(6):333-7. PubMed ID: 26871559
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 48(12):825-30. PubMed ID: 22051515
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 526(2):467-70. PubMed ID: 23624391
    [TBL] [Abstract][Full Text] [Related]  

  • 9. XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene.
    Barbosa AS; Ferraz-Costa TE; Semer M; Liberman B; Moreira-Filho CA
    Hum Genet; 1995 Jan; 95(1):63-6. PubMed ID: 7814028
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.
    Fan W; Wang B; He S; Zhang T; Yin C; Chen Y; Zheng S; Zhang J; Li L
    PLoS One; 2016; 11(12):e0168484. PubMed ID: 28030592
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.
    Hersmus R; Stoop H; Turbitt E; Oosterhuis JW; Drop SL; Sinclair AH; White SJ; Looijenga LH
    BMC Med Genet; 2012 Nov; 13():108. PubMed ID: 23157850
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients.
    Uehara S; Funato T; Yaegashi N; Suziki H; Sato J; Sasaki T; Yajima A
    Cancer Genet Cytogenet; 1999 Aug; 113(1):78-84. PubMed ID: 10459352
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.
    Harley VR; Layfield S; Mitchell CL; Forwood JK; John AP; Briggs LJ; McDowall SG; Jans DA
    Proc Natl Acad Sci U S A; 2003 Jun; 100(12):7045-50. PubMed ID: 12764225
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal.
    Kaur G; Delluc-Clavieres A; Poon IK; Forwood JK; Glover DJ; Jans DA
    Biochem J; 2010 Aug; 430(1):39-48. PubMed ID: 20528776
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 53(5):e14011. PubMed ID: 33570214
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
    Tajouri A; Ben Gaied D; Hizem S; Boujelben S; Maazoul F; M'rad R; Poulat F; Kharrat M
    Sex Dev; 2017; 11(4):203-209. PubMed ID: 28787711
    [TBL] [Abstract][Full Text] [Related]  

  • 17. FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas.
    Buell-Gutbrod R; Ivanovic M; Montag A; Lengyel E; Fadare O; Gwin K
    Pediatr Dev Pathol; 2011; 14(5):391-5. PubMed ID: 21682576
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
    Raveendran SK; Ramachandran L; Joseph L; Asokan AK; Raj S; George A; James J
    Andrologia; 2019 Oct; 51(9):e13377. PubMed ID: 31361042
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.
    Xue M; Wang X; Li C; Zhao M; He F; Li X
    Gene; 2019 Nov; 718():144072. PubMed ID: 31446095
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
    Bastian C; Muller JB; Lortat-Jacob S; Nihoul-Fékété C; Bignon-Topalovic J; McElreavey K; Bashamboo A; Brauner R
    Fertil Steril; 2015 May; 103(5):1297-304. PubMed ID: 25813279
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.