BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 21278390)

  • 1. High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
    Nik-Zainal S; Strick R; Storer M; Huang N; Rad R; Willatt L; Fitzgerald T; Martin V; Sandford R; Carter NP; Janecke AR; Renner SP; Oppelt PG; Oppelt P; Schulze C; Brucker S; Hurles M; Beckmann MW; Strissel PL; Shaw-Smith C
    J Med Genet; 2011 Mar; 48(3):197-204. PubMed ID: 21278390
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.
    Morcel K; Watrin T; Pasquier L; Rochard L; Le Caignec C; Dubourg C; Loget P; Paniel BJ; Odent S; David V; Pellerin I; Bendavid C; Guerrier D
    Orphanet J Rare Dis; 2011 Mar; 6():9. PubMed ID: 21406098
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
    Gervasini C; Grati FR; Lalatta F; Tabano S; Gentilin B; Colapietro P; De Toffol S; Frontino G; Motta F; Maitz S; Bernardini L; Dallapiccola B; Fedele L; Larizza L; Miozzo M
    Genet Med; 2010 Oct; 12(10):634-40. PubMed ID: 20847698
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.
    Hinkes B; Hilgers KF; Bolz HJ; Goppelt-Struebe M; Amann K; Nagl S; Bergmann C; Rascher W; Eckardt KU; Jacobi J
    BMC Nephrol; 2012 May; 13():27. PubMed ID: 22583611
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?
    Smol T; Ribero-Karrouz W; Edery P; Gorduza DB; Catteau-Jonard S; Manouvrier-Hanu S; Ghoumid J
    Eur J Med Genet; 2020 Apr; 63(4):103812. PubMed ID: 31731040
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
    Ledig S; Brucker S; Barresi G; Schomburg J; Rall K; Wieacker P
    Hum Reprod; 2012 Sep; 27(9):2872-5. PubMed ID: 22740494
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DNA copy number variations are important in the complex genetic architecture of müllerian disorders.
    McGowan R; Tydeman G; Shapiro D; Craig T; Morrison N; Logan S; Balen AH; Ahmed SF; Deeny M; Tolmie J; Tobias ES
    Fertil Steril; 2015 Apr; 103(4):1021-1030.e1. PubMed ID: 25707337
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.
    Bernardini L; Gimelli S; Gervasini C; Carella M; Baban A; Frontino G; Barbano G; Divizia MT; Fedele L; Novelli A; Béna F; Lalatta F; Miozzo M; Dallapiccola B
    Orphanet J Rare Dis; 2009 Nov; 4():25. PubMed ID: 19889212
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
    Jacquinet A; Boujemla B; Fasquelle C; Thiry J; Josse C; Lumaka A; Brischoux-Boucher E; Dubourg C; David V; Pasquier L; Lehman A; Morcel K; Guerrier D; Bours V
    Clin Genet; 2020 Aug; 98(2):126-137. PubMed ID: 32378186
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
    Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
    Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
    Herlin MK
    Front Endocrinol (Lausanne); 2024; 15():1368990. PubMed ID: 38699388
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.
    Su K; Liu H; Ye X; Jin H; Xie Z; Yang C; Zhou D; Huang H; Wu Y
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2280. PubMed ID: 37789575
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature.
    Gatti M; Tolva G; Bergamaschi S; Giavoli C; Esposito S; Marchisio P; Milani D
    J Pediatr Adolesc Gynecol; 2018 Oct; 31(5):533-535. PubMed ID: 29730431
    [TBL] [Abstract][Full Text] [Related]  

  • 14. HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina.
    Ekici AB; Strissel PL; Oppelt PG; Renner SP; Brucker S; Beckmann MW; Strick R
    Gene; 2013 Apr; 518(2):267-72. PubMed ID: 23376215
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.
    Demirel F; Kara O; Esen I
    J Pediatr Endocrinol Metab; 2012; 25(3-4):383-6. PubMed ID: 22768675
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.
    Bjørsum-Meyer T; Herlin M; Qvist N; Petersen MB
    J Med Case Rep; 2016 Dec; 10(1):374. PubMed ID: 28003020
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging. Role of imaging to identify and evaluate the uncommon variation in development of the female genital tract.
    Fiaschetti V; Taglieri A; Gisone V; Coco I; Simonetti G
    J Radiol Case Rep; 2012 Apr; 6(4):17-24. PubMed ID: 22690292
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.
    Morcel K; Dallapiccola B; Pasquier L; Watrin T; Bernardini L; Guerrier D
    Eur J Hum Genet; 2012 Feb; 20(2):. PubMed ID: 21897448
    [No Abstract]   [Full Text] [Related]  

  • 19. Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
    Brakta S; Du Q; Chorich LP; Hawkins ZA; Sullivan ME; Ko EK; Kim HG; Knight J; Taylor HS; Friez M; Phillips JA; Layman LC
    Mol Cell Endocrinol; 2024 Aug; 589():112237. PubMed ID: 38599276
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women.
    Chang X; Qin Y; Xu C; Li G; Zhao X; Chen ZJ
    Reprod Biomed Online; 2012 Jun; 24(6):630-3. PubMed ID: 22503279
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.