Schoenle EJ - Search Results

1

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

Flück CE, Meyer-Böni M, Pandey AV, Kempná P, Miller WL, Schoenle EJ, Biason-Lauber A. Flück CE, et al. Among authors: schoenle ej. Am J Hum Genet. 2011 Aug 12;89(2):201-18. doi: 10.1016/j.ajhg.2011.06.009. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802064 Free PMC article.

2

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.

Biason-Lauber A, Schoenle EJ. Biason-Lauber A, et al. Among authors: schoenle ej. Am J Hum Genet. 2000 Dec;67(6):1563-8. doi: 10.1086/316893. Epub 2000 Oct 18. Am J Hum Genet. 2000. PMID: 11038323 Free PMC article.

3

Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization.

Rosa S, Biason-Lauber A, Mongan NP, Navratil F, Schoenle EJ. Rosa S, et al. Among authors: schoenle ej. J Clin Endocrinol Metab. 2002 Sep;87(9):4378-82. doi: 10.1210/jc.2002-020139. J Clin Endocrinol Metab. 2002. PMID: 12213902

4

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. Among authors: schoenle ej. 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.

5

Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.

Hauri-Hohl A, Meyer-Böni M, Lang-Muritano M, Hauri-Hohl M, Schoenle EJ, Biason-Lauber A. Hauri-Hohl A, et al. Among authors: schoenle ej. Clin Endocrinol (Oxf). 2011 Jul;75(1):39-43. doi: 10.1111/j.1365-2265.2011.04012.x. Clin Endocrinol (Oxf). 2011. PMID: 21521281

6

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.

Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ. Biason-Lauber A, et al. Among authors: schoenle ej. Diabetes. 2002 Jul;51(7):2301-5. doi: 10.2337/diabetes.51.7.2301. Diabetes. 2002. PMID: 12086964

7

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. Among authors: schoenle ej. N Engl J Med. 2004 Aug 19;351(8):792-8. doi: 10.1056/NEJMoa040533. N Engl J Med. 2004. PMID: 15317892 Free article.

8

Clinical follow-up of the first SF-1 insufficient female patient.

Gerster K, Biason-Lauber A, Schoenle EJ. Gerster K, et al. Among authors: schoenle ej. Ann Endocrinol (Paris). 2017 Jul;78(3):156-161. doi: 10.1016/j.ando.2017.01.002. Epub 2017 Jun 16. Ann Endocrinol (Paris). 2017. PMID: 28624161 Free article.

9

A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome.

Lang-Muritano M, Biason-Lauber A, Gitzelmann C, Belville C, Picard Y, Schoenle EJ. Lang-Muritano M, et al. Among authors: schoenle ej. Eur J Pediatr. 2001 Nov;160(11):652-4. doi: 10.1007/s004310100840. Eur J Pediatr. 2001. PMID: 11760020

10

High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland.

Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T. Steigert M, et al. Among authors: schoenle ej. J Clin Endocrinol Metab. 2002 Sep;87(9):4106-10. doi: 10.1210/jc.2002-012093. J Clin Endocrinol Metab. 2002. PMID: 12213856

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