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Items: 1 to 20 of 116

1.

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ.

N Engl J Med. 2004 Aug 19;351(8):792-8.

2.

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.

Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ.

Hum Reprod. 2007 Jan;22(1):224-9. Epub 2006 Sep 7.

PMID:
16959810
3.

Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.

Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D, Schoenle E, Sultan C.

J Clin Endocrinol Metab. 2008 Mar;93(3):895-900. doi: 10.1210/jc.2007-2023. Epub 2008 Jan 8.

PMID:
18182450
4.

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings.

Sultan C, Biason-Lauber A, Philibert P.

Gynecol Endocrinol. 2009 Jan;25(1):8-11. doi: 10.1080/09513590802288291. Review.

PMID:
19165657
5.

WNT4 and sex development.

Biason-Lauber A, Konrad D.

Sex Dev. 2008;2(4-5):210-8. doi: 10.1159/000152037. Epub 2008 Nov 5. Review.

6.

Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome.

Ravel C, Lorenço D, Dessolle L, Mandelbaum J, McElreavey K, Darai E, Siffroi JP.

Fertil Steril. 2009 Apr;91(4 Suppl):1604-7. doi: 10.1016/j.fertnstert.2008.12.006. Epub 2009 Jan 25.

PMID:
19171330
7.

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome).

Philibert P, Biason-Lauber A, Gueorguieva I, Stuckens C, Pienkowski C, Lebon-Labich B, Paris F, Sultan C.

Fertil Steril. 2011 Jun 30;95(8):2683-6. doi: 10.1016/j.fertnstert.2011.01.152. Epub 2011 Mar 5.

PMID:
21377155
8.

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. doi: 10.1016/j.rbmo.2012.03.008. Epub 2012 Mar 18.

PMID:
22503279
9.

Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities.

Ma J, Qin Y, Liu W, Duan H, Xia M, Chen ZJ.

Fertil Steril. 2011 Jun 30;95(8):2615-7. doi: 10.1016/j.fertnstert.2011.04.074. Epub 2011 May 14.

PMID:
21575942
10.

Mayer-Rokitansky-Küster-Hauser syndrome associated with unilateral gonadal agenesis. A case report.

Kaya H, Sezik M, Ozkaya O, Köse SA.

J Reprod Med. 2003 Nov;48(11):902-4.

PMID:
14686026
11.

Mayer-Rokitansky-Küster-Hauser syndrome of Müllerian agenesis [corrected].

Pandey B, Hamdi IM.

Saudi Med J. 2003 May;24(5):532-4. Erratum in: Saudi Med J. 2003 Oct;24(10):1152.

PMID:
12847632
12.

[Gonadal agenesis 46,XX associated with Mayer-Rokitansky-Kuster-Haüser syndrome. A rare association].

Kdous M, Ferchiou M, Boubaker M, Chaker A, Meriah S.

Tunis Med. 2008 Dec;86(12):1101-2. French. No abstract available.

PMID:
19213530
13.

Testicular feminization with persistent wolffian duct and müllerian remnants: similar to Mayer-Rokitansky-Kuster-Hauser syndrome.

Kitade M, Takeuchi H, Jinushi M, Kikuchi I, Kumakiri J, Kuroda K.

Fertil Steril. 2009 Dec;92(6):2034-6. doi: 10.1016/j.fertnstert.2008.12.126. Epub 2009 May 6.

PMID:
19423097
14.

WNT7A mutations in patients with Müllerian duct abnormalities.

Timmreck LS, Pan HA, Reindollar RH, Gray MR.

J Pediatr Adolesc Gynecol. 2003 Aug;16(4):217-21.

PMID:
14550385
15.

Mayer-Rokitansky-Küster-Hauser syndrome presenting as vaginal atresia: report of two cases.

Rampone B, Filippeschi M, Di Martino M, Marrelli D, Pedrazzani C, Grimaldi L, Cerullo G, Caruso S, Pinto E, Roviello F.

G Chir. 2008 Apr;29(4):165-7.

PMID:
18419982
16.

Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome.

Plevraki E, Kita M, Goulis DG, Hatzisevastou-Loukidou H, Lambropoulos AF, Avramides A.

Fertil Steril. 2004 Mar;81(3):689-92.

PMID:
15037423
17.

Mayer-Rokitansky-Küster-Hauser syndrome accompanied by renal cell carcinoma: a case report.

Mermerkaya M, Burgu B, Hamidi N, Yüksel S, Özçakar ZB, Sertçelik A, Yalçinkaya F, Soygür T.

J Pediatr Hematol Oncol. 2013 Oct;35(7):e309-10. doi: 10.1097/MPH.0b013e3182707321.

PMID:
23042009
18.

Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.

Behera M, Couchman G, Walmer D, Price TM.

Obstet Gynecol Surv. 2005 Jul;60(7):453-61. Review.

PMID:
15995562
20.

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Slavotinek AM, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, Whiteford M, Biesecker LG, Stratton P.

Am J Med Genet A. 2004 Aug 15;129A(1):69-72.

PMID:
15266619

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