139 related articles for article (PubMed ID: 36112137)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
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. 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]
10. 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]
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. Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.
Watanabe K; Kobayashi Y; Banno K; Matoba Y; Kunitomi H; Nakamura K; Adachi M; Umene K; Kisu I; Tominaga E; Aoki D
Biomed Rep; 2017 Aug; 7(2):123-127. PubMed ID: 28804623
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Fontana L; Gentilin B; Fedele L; Gervasini C; Miozzo M
Clin Genet; 2017 Feb; 91(2):233-246. PubMed ID: 27716927
[TBL] [Abstract][Full Text] [Related]
15. Sexual life and sexual wellness in individuals with complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS).
Fliegner M; Krupp K; Brunner F; Rall K; Brucker SY; Briken P; Richter-Appelt H
J Sex Med; 2014 Mar; 11(3):729-42. PubMed ID: 24165016
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Sexual response in women with Mayer-Rokitansky-Küster-Hauser syndrome with a nonsurgical neovagina.
Both S; Kluivers K; Ten Kate-Booij M; Weijenborg P
Am J Obstet Gynecol; 2018 Sep; 219(3):283.e1-283.e8. PubMed ID: 30017684
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female.
Kisu I; Ono A; Iijma T; Katayama M; Iura A; Hirao N
J Obstet Gynaecol Res; 2019 Jul; 45(7):1386-1390. PubMed ID: 30912224
[TBL] [Abstract][Full Text] [Related]
20. Decidualization is Impaired in Endometrial Stromal Cells from Uterine Rudiments in Mayer-Rokitansky-Küster-Hauser Syndrome.
Brucker SY; Eisenbeis S; König J; Lamy M; Salker MS; Zeng N; Seeger H; Henes M; Schöller D; Schönfisch B; Staebler A; Taran FA; Wallwiener D; Rall K
Cell Physiol Biochem; 2017; 41(3):1083-1097. PubMed ID: 28245469
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
