Biason-Lauber A - Search Results

1

Biason-Lauber A, Konrad D. Biason-Lauber A, et al. Sex Dev. 2008;2(4-5):210-8. doi: 10.1159/000152037. Epub 2008 Nov 5. Sex Dev. 2008. PMID: 18987495 Free article. Review.

2

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

Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. Biason-Lauber A, et al. N Engl J Med. 2004 Aug 19;351(8):792-8. doi: 10.1056/NEJMoa040533. N Engl J Med. 2004. PMID: 15317892 Free article.

3

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. Biason-Lauber A, et al. Hum Reprod. 2007 Jan;22(1):224-9. doi: 10.1093/humrep/del360. Epub 2006 Sep 7. Hum Reprod. 2007. PMID: 16959810 Free article.

4

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. Philibert P, et al. J Clin Endocrinol Metab. 2008 Mar;93(3):895-900. doi: 10.1210/jc.2007-2023. Epub 2008 Jan 8. J Clin Endocrinol Metab. 2008. PMID: 18182450

5

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ. Biason-Lauber A, et al. Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009 Apr 9. Am J Hum Genet. 2009. PMID: 19361780 Free PMC article.

6

Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).

Lang-Muritano M, Sproll P, Wyss S, Kolly A, Hürlimann R, Konrad D, Biason-Lauber A. Lang-Muritano M, et al. Among authors: biason lauber a. J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748-3756. doi: 10.1210/jc.2018-00769. J Clin Endocrinol Metab. 2018. PMID: 30113650

7

Identification of a SIRT1 mutation in a family with type 1 diabetes.

Biason-Lauber A, Böni-Schnetzler M, Hubbard BP, Bouzakri K, Brunner A, Cavelti-Weder C, Keller C, Meyer-Böni M, Meier DT, Brorsson C, Timper K, Leibowitz G, Patrignani A, Bruggmann R, Boily G, Zulewski H, Geier A, Cermak JM, Elliott P, Ellis JL, Westphal C, Knobel U, Eloranta JJ, Kerr-Conte J, Pattou F, Konrad D, Matter CM, Fontana A, Rogler G, Schlapbach R, Regairaz C, Carballido JM, Glaser B, McBurney MW, Pociot F, Sinclair DA, Donath MY. Biason-Lauber A, et al. Cell Metab. 2013 Mar 5;17(3):448-455. doi: 10.1016/j.cmet.2013.02.001. Cell Metab. 2013. PMID: 23473037 Free PMC article.

8

WNT4, RSPO1, and FOXL2 in sex development.

Biason-Lauber A. Biason-Lauber A. Semin Reprod Med. 2012 Oct;30(5):387-95. doi: 10.1055/s-0032-1324722. Epub 2012 Oct 8. Semin Reprod Med. 2012. PMID: 23044875 Review.

9

Control of sex development.

Biason-Lauber A. Biason-Lauber A. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):163-86. doi: 10.1016/j.beem.2009.12.002. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541146 Free article. Review.

10

A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita.

Gerster K, Katschnig C, Wyss S, Kolly A, Sproll P, Biason-Lauber A, Konrad D. Gerster K, et al. Among authors: biason lauber a. J Pediatr Endocrinol Metab. 2017 Nov 27;30(12):1321-1325. doi: 10.1515/jpem-2017-0261. J Pediatr Endocrinol Metab. 2017. PMID: 29087957

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