BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 32010941)

  • 1. High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
    Jacobson JD; Willig LK; Gatti J; Strickland J; Egan A; Saunders C; Farrow E; Heckert LL
    Endocrinology; 2020 May; 161(5):. PubMed ID: 32010941
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.
    De Falco L; Piscopo C; D'Angelo R; Evangelista E; Suero T; Sirica R; Ruggiero R; Savarese G; Di Carlo A; Furino G; Scarpato C; Fico A
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946839
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
    Mazen I; Mekkawy M; Kamel A; Essawi M; Hassan H; Abdel-Hamid M; Amr K; Soliman H; El-Ruby M; Torky A; El Gammal M; Elaidy A; Bashamboo A; McElreavey K
    Am J Med Genet A; 2021 Jun; 185(6):1666-1677. PubMed ID: 33742552
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.
    Xu Y; Wang Y; Li N; Yao R; Li G; Li J; Ding Y; Chen Y; Huang X; Chen Y; Qing Y; Yu T; Shen Y; Wang X; Shen Y; Wang J
    Eur J Endocrinol; 2019 Sep; 181(3):311-323. PubMed ID: 31277073
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development.
    Guo Q; Zhong WW; Lai HJ; Ye L; Zhang YF; Li JT; Qiu JG; Wang J
    Sex Dev; 2023; 17(1):26-31. PubMed ID: 36689917
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
    Baetens D; Güran T; Mendonca BB; Gomes NL; De Cauwer L; Peelman F; Verdin H; Vuylsteke M; Van der Linden M; ; Atay Z; Bereket A; de Krijger RR; Preter K; Domenice S; Turan S; Stoop H; Looijenga LH; De Bosscher K; Cools M; De Baere E
    Genet Med; 2018 Jul; 20(7):717-727. PubMed ID: 29261182
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Translating genomics to the clinical diagnosis of disorders/differences of sex development.
    Parivesh A; Barseghyan H; Délot E; Vilain E
    Curr Top Dev Biol; 2019; 134():317-375. PubMed ID: 30999980
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
    Nagy O; Kárteszi J; Hartwig M; Bertalan R; Jávorszky E; Erhardt É; Patócs A; Tornóczky T; Balogh I; Ujfalusi A
    Mol Biol Rep; 2019 Oct; 46(5):5595-5601. PubMed ID: 31338750
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Preliminary investigation of gender assignment in 46,XY disorders of sex development with severe male undermasculinisation].
    Wu DH; Tian HJ; Yuan JN; Dong GP; Wu DW; Yang RW; Sun LY; Tang DX; Fu JF
    Zhonghua Er Ke Za Zhi; 2019 Oct; 57(10):786-791. PubMed ID: 31594066
    [No Abstract]   [Full Text] [Related]  

  • 10. Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience.
    Shamma RA; Atef S; Arafa N
    Endokrynol Pol; 2021; 72(5):558-565. PubMed ID: 34010442
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.
    Xia J; Wu J; Chen C; Zhao Z; Xie Y; Bai Z; Kong X
    Gynecol Endocrinol; 2021 Oct; 37(10):934-940. PubMed ID: 34338568
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
    Gomes NL; Batista RL; Nishi MY; Lerário AM; Silva TE; de Moraes Narcizo A; Benedetti AFF; de Assis Funari MF; Faria Junior JA; Moraes DR; Quintão LML; Montenegro LR; Ferrari MTM; Jorge AA; Arnhold IJP; Costa EMF; Domenice S; Mendonca BB
    J Clin Endocrinol Metab; 2022 Apr; 107(5):e1797-e1806. PubMed ID: 35134971
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.
    Dong Y; Yi Y; Yao H; Yang Z; Hu H; Liu J; Gao C; Zhang M; Zhou L; Asan ; Yi X; Liang Z
    BMC Med Genet; 2016 Mar; 17():23. PubMed ID: 26980296
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
    Bever YV; Brüggenwirth HT; Wolffenbuttel KP; Dessens AB; Groenenberg IAL; Knapen MFCM; De Baere E; Cools M; van Ravenswaaij-Arts CMA; Sikkema-Raddatz B; Claahsen-van der Grinten H; Kempers M; Rinne T; Hersmus R; Looijenga L; Hannema SE
    J Med Genet; 2020 Sep; 57(9):581-589. PubMed ID: 32303604
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Etiological classification and clinical assessment of children and adolescents with disorders of sex development.
    Erdoğan S; Kara C; Uçaktürk A; Aydın M
    J Clin Res Pediatr Endocrinol; 2011; 3(2):77-83. PubMed ID: 21750636
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disorders of sex development: Genetic characterization of a patient cohort.
    García-Acero M; Moreno-Niño O; Suárez-Obando F; Molina M; Manotas MC; Prieto JC; Forero C; Céspedes C; Pérez J; Fernandez N; Rojas A
    Mol Med Rep; 2020 Jan; 21(1):97-106. PubMed ID: 31746433
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
    Wang H; Zhang L; Wang N; Zhu H; Han B; Sun F; Yao H; Zhang Q; Zhu W; Cheng T; Cheng K; Liu Y; Zhao S; Song H; Qiao J
    Hum Genet; 2018 Mar; 137(3):265-277. PubMed ID: 29582157
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
    Luna SE; Wegner DJ; Gale S; Yang P; Hollander A; St Dennis-Feezle L; Nabhan ZM; Ory DS; Cole FS; Wambach JA
    J Steroid Biochem Mol Biol; 2021 Sep; 212():105908. PubMed ID: 33984517
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disorders of Sex Development in Individuals Harbouring
    Li L; Gao F; Fan L; Su C; Liang X; Gong C
    Front Endocrinol (Lausanne); 2020; 11():582516. PubMed ID: 33424767
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.