These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 29145200)

  • 1. The Role of Copy Number Variants in Disorders of Sex Development.
    Croft B; Ohnesorg T; Sinclair AH
    Sex Dev; 2018; 12(1-3):19-29. PubMed ID: 29145200
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development.
    Nowacka-Woszuk J; Szczerbal I; Pausch H; Hundi S; Hytönen MK; Grzemski A; Flisikowski K; Lohi H; Switonski M; Szydlowski M
    Anim Genet; 2017 Jun; 48(3):330-337. PubMed ID: 28094446
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Non-coding variation in disorders of sex development.
    Baetens D; Mendonça BB; Verdin H; Cools M; De Baere E
    Clin Genet; 2017 Feb; 91(2):163-172. PubMed ID: 27801941
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CNVs of noncoding cis-regulatory elements in human disease.
    Spielmann M; Klopocki E
    Curr Opin Genet Dev; 2013 Jun; 23(3):249-56. PubMed ID: 23601627
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
    Kim GJ; Sock E; Buchberger A; Just W; Denzer F; Hoepffner W; German J; Cole T; Mann J; Seguin JH; Zipf W; Costigan C; Schmiady H; Rostásy M; Kramer M; Kaltenbach S; Rösler B; Georg I; Troppmann E; Teichmann AC; Salfelder A; Widholz SA; Wieacker P; Hiort O; Camerino G; Radi O; Wegner M; Arnold HH; Scherer G
    J Med Genet; 2015 Apr; 52(4):240-7. PubMed ID: 25604083
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Targeting the Non-Coding Genome for the Diagnosis of Disorders of Sex Development.
    Atlas G; Sreenivasan R; Sinclair A
    Sex Dev; 2021; 15(5-6):392-410. PubMed ID: 34634785
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recent findings on the genetics of disorders of sex development.
    Kremen J; Chan YM; Swartz JM
    Curr Opin Urol; 2017 Jan; 27(1):1-6. PubMed ID: 27798415
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
    Eggers S; Sadedin S; van den Bergen JA; Robevska G; Ohnesorg T; Hewitt J; Lambeth L; Bouty A; Knarston IM; Tan TY; Cameron F; Werther G; Hutson J; O'Connell M; Grover SR; Heloury Y; Zacharin M; Bergman P; Kimber C; Brown J; Webb N; Hunter MF; Srinivasan S; Titmuss A; Verge CF; Mowat D; Smith G; Smith J; Ewans L; Shalhoub C; Crock P; Cowell C; Leong GM; Ono M; Lafferty AR; Huynh T; Visser U; Choong CS; McKenzie F; Pachter N; Thompson EM; Couper J; Baxendale A; Gecz J; Wheeler BJ; Jefferies C; MacKenzie K; Hofman P; Carter P; King RI; Krausz C; van Ravenswaaij-Arts CM; Looijenga L; Drop S; Riedl S; Cools M; Dawson A; Juniarto AZ; Khadilkar V; Khadilkar A; Bhatia V; Dũng VC; Atta I; Raza J; Thi Diem Chi N; Hao TK; Harley V; Koopman P; Warne G; Faradz S; Oshlack A; Ayers KL; Sinclair AH
    Genome Biol; 2016 Nov; 17(1):243. PubMed ID: 27899157
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study.
    Nowacka-Woszuk J; Szczerbal I; Stachowiak M; Szydlowski M; Nizanski W; Dzimira S; Maslak A; Payan-Carreira R; Wydooghe E; Nowak T; Switonski M
    PLoS One; 2019; 14(6):e0218565. PubMed ID: 31220175
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
    Arboleda VA; Lee H; Sánchez FJ; Délot EC; Sandberg DE; Grody WW; Nelson SF; Vilain E
    Clin Genet; 2013 Jan; 83(1):35-43. PubMed ID: 22435390
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
    Mary L; Fradin M; Pasquier L; Quelin C; Loget P; Le Lous M; Le Bouar G; Nivot-Adamiak S; Lokchine A; Dubourg C; Jauffret V; Nouyou B; Henry C; Launay E; Odent S; Jaillard S; Belaud-Rotureau MA
    Eur J Med Genet; 2023 Jun; 66(6):104748. PubMed ID: 36948288
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene.
    Szczerbal I; Nowacka-Woszuk J; Dzimira S; Atamaniuk W; Nizanski W; Switonski M
    Sex Dev; 2016; 10(2):74-8. PubMed ID: 27089505
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression.
    Li MJ; Yan B; Sham PC; Wang J
    Brief Bioinform; 2015 May; 16(3):393-412. PubMed ID: 24916300
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Using ROADMAP Data to Identify Enhancers Associated with Disorders of Sex Development.
    Ohnesorg T; Croft B; Tan J; Sinclair AH
    Sex Dev; 2016; 10(2):59-65. PubMed ID: 27078861
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
    Van Schil K; Naessens S; Van de Sompele S; Carron M; Aslanidis A; Van Cauwenbergh C; Kathrin Mayer A; Van Heetvelde M; Bauwens M; Verdin H; Coppieters F; Greenberg ME; Yang MG; Karlstetter M; Langmann T; De Preter K; Kohl S; Cherry TJ; Leroy BP; ; De Baere E
    Genet Med; 2018 Feb; 20(2):202-213. PubMed ID: 28749477
    [TBL] [Abstract][Full Text] [Related]  

  • 17. New technologies to uncover the molecular basis of disorders of sex development.
    Barseghyan H; Délot EC; Vilain E
    Mol Cell Endocrinol; 2018 Jun; 468():60-69. PubMed ID: 29655603
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Submicroscopic copy-number variations associated with 46,XY disorders of sex development.
    Kon M; Fukami M
    Mol Cell Pediatr; 2015 Dec; 2(1):7. PubMed ID: 26542297
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New genomic technologies: an aid for diagnosis of disorders of sex development.
    Barseghyan H; Délot E; Vilain E
    Horm Metab Res; 2015 May; 47(5):312-20. PubMed ID: 25970709
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Copy Number Variations in Tilapia Genomes.
    Li BJ; Li HL; Meng Z; Zhang Y; Lin H; Yue GH; Xia JH
    Mar Biotechnol (NY); 2017 Feb; 19(1):11-21. PubMed ID: 28168542
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.