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.
7. Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report. Herlin MK; Le VQ; Højland AT; Ernst A; Okkels H; Petersen AC; Petersen MB; Pedersen IS Hum Reprod; 2019 Sep; 34(9):1838-1846. PubMed ID: 31424080 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients. Eggermann T; Ledig S; Begemann M; Elbracht M; Kurth I; Wieacker P Mol Genet Genomic Med; 2018 Nov; 6(6):1225-1228. PubMed ID: 30099855 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women. Milsom SR; Ogilvie CM; Jefferies C; Cree L Gynecol Endocrinol; 2015; 31(9):684-7. PubMed ID: 26291808 [TBL] [Abstract][Full Text] [Related]
15. Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. Bombard DS; Mousa SA Gynecol Endocrinol; 2014 Sep; 30(9):618-23. PubMed ID: 24948340 [TBL] [Abstract][Full Text] [Related]
16. Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches. Backhouse B; Hanna C; Robevska G; van den Bergen J; Pelosi E; Simons C; Koopman P; Juniarto AZ; Grover S; Faradz S; Sinclair A; Ayers K; Tan TY Sex Dev; 2019; 13(1):26-34. PubMed ID: 30504698 [TBL] [Abstract][Full Text] [Related]
17. GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome. Kyei Barffour I; Kyei Baah Kwarkoh R Eur J Med Genet; 2021 Mar; 64(3):104158. PubMed ID: 33548512 [TBL] [Abstract][Full Text] [Related]
18. Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome. Peters HE; Johnson BN; Ehli EA; Micha D; Verhoeven MO; Davies GE; Dekker JJML; Overbeek A; Berg MHVD; Dulmen-den Broeder EV; Leeuwen FEV; Mijatovic V; Boomsma DI; Lambalk CB Hum Reprod; 2019 Jun; 34(6):1117-1125. PubMed ID: 31111890 [TBL] [Abstract][Full Text] [Related]
19. Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han. Ma W; Li Y; Wang M; Li H; Su T; Li Y; Wang S PLoS One; 2015; 10(6):e0130202. PubMed ID: 26075712 [TBL] [Abstract][Full Text] [Related]
20. Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome. Chu C; Li L; Li S; Zhou Q; Zheng P; Zhang YD; Duan AH; Lu D; Wu YM Hum Genomics; 2022 Mar; 16(1):10. PubMed ID: 35361250 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]