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 *

215 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.