314 related articles for article (PubMed ID: 33434492)
1. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N; Zhao S; Jolly A; Wang L; Pan H; Yuan J; Chen S; Koch A; Ma C; Tian W; Jia Z; Kang J; Zhao L; Qin C; Fan X; Rall K; Coban-Akdemir Z; Chen Z; Jhangiani S; Liang Z; Niu Y; Li X; Yan Z; Wu Y; Dong S; Song C; Qiu G; Zhang S; Liu P; Posey JE; Zhang F; Luo G; Wu Z; ; Su J; Zhang J; Chen EY; Rouskas K; Glentis S; Bacopoulou F; Deligeoroglou E; Chrousos G; Lyonnet S; Polak M; Rosenberg C; Dingeldein I; Bonilla X; Borel C; Gibbs RA; Dietrich JE; Dimas AS; Antonarakis SE; Brucker SY; Lupski JR; Wu N; Zhu L
Am J Hum Genet; 2021 Feb; 108(2):337-345. PubMed ID: 33434492
[TBL] [Abstract][Full Text] [Related]
2. Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Waschk DE; Tewes AC; Römer T; Hucke J; Kapczuk K; Schippert C; Hillemanns P; Wieacker P; Ledig S
Clin Genet; 2016 May; 89(5):590-6. PubMed ID: 26610373
[TBL] [Abstract][Full Text] [Related]
3. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Ma C; Chen N; Jolly A; Zhao S; Coban-Akdemir Z; Tian W; Kang J; Ye Y; Wang Y; Koch A; Zhang Y; Qin C; Bonilla X; Borel C; Rall K; Chen Z; Jhangiani S; Niu Y; Li X; Qiu G; Zhang S; Luo G; Wu Z; Bacopoulou F; Deligeoroglou E; Zhang TJ; Rosenberg C; Gibbs RA; Dietrich JE; Dimas AS; Liu P; Antonarakis SE; Brucker SY; Posey JE; Lupski JR; Wu N; Zhu L;
Genet Med; 2022 Nov; 24(11):2262-2273. PubMed ID: 36112137
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Analysis of WNT9B mutations in Chinese women with Mayer-Rokitansky-Küster-Hauser syndrome.
Wang M; Li Y; Ma W; Li H; He F; Pu D; Su T; Wang S
Reprod Biomed Online; 2014 Jan; 28(1):80-5. PubMed ID: 24268733
[TBL] [Abstract][Full Text] [Related]
6. Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.
Tewes AC; Hucke J; Römer T; Kapczuk K; Schippert C; Hillemanns P; Wieacker P; Ledig S
Sex Dev; 2019; 13(1):35-40. PubMed ID: 30739119
[TBL] [Abstract][Full Text] [Related]
7. Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Brucker SY; Frank L; Eisenbeis S; Henes M; Wallwiener D; Riess O; van Eijck B; Schöller D; Bonin M; Rall KK
Acta Obstet Gynecol Scand; 2017 Nov; 96(11):1338-1346. PubMed ID: 28815558
[TBL] [Abstract][Full Text] [Related]
8. Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
Nodale C; Ceccarelli S; Giuliano M; Cammarota M; D'Amici S; Vescarelli E; Maffucci D; Bellati F; Panici PB; Romano F; Angeloni A; Marchese C
PLoS One; 2014; 9(3):e91010. PubMed ID: 24608967
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
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. Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.
Tewes AC; Rall KK; Römer T; Hucke J; Kapczuk K; Brucker S; Wieacker P; Ledig S
Fertil Steril; 2015 May; 103(5):1313-8. PubMed ID: 25813282
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies.
Ledig S; Tewes AC; Hucke J; Römer T; Kapczuk K; Schippert C; Hillemanns P; Wieacker P
Clin Genet; 2018 Mar; 93(3):640-646. PubMed ID: 29068465
[TBL] [Abstract][Full Text] [Related]
15. Mayer-Rokitansky-Küster-Hauser syndrome discordance in monozygotic twins: matrix metalloproteinase 14, low-density lipoprotein receptor-related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-specific mosaicism.
Rall K; Eisenbeis S; Barresi G; Rückner D; Walter M; Poths S; Wallwiener D; Riess O; Bonin M; Brucker S
Fertil Steril; 2015 Feb; 103(2):494-502.e3. PubMed ID: 25492683
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Rare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Brucker SY; Pösch LS; Graf J; Sokolov AN; Schaeffeler N; Kronenthaler A; Hiltner H; Wagner A; Ueding E; Rieger MA; Schöller D; Stefanescu D; Rall KK; Wallwiener D; Simoes E
BMC Womens Health; 2020 Jun; 20(1):135. PubMed ID: 32600323
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
