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    Results: 27

    1.

    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.

    Am J Hum Genet. 2009 May;84(5):658-63. Epub 2009 Apr 9.PMID: 19361780 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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. Review.PMID: 19165657 [PubMed - indexed for MEDLINE]Related articles

    3.

    WNT4 and sex development.

    Biason-Lauber A, Konrad D.

    Sex Dev. 2008;2(4-5):210-8. Epub 2008 Nov 5. Review.PMID: 18987495 [PubMed - indexed for MEDLINE]Related articles

    4.

    Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.

    Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM.

    J Clin Endocrinol Metab. 2008 Oct;93(10):3827-32. Epub 2008 Jul 15.PMID: 18628520 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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. Epub 2008 Jan 8.PMID: 18182450 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Congenital adrenal hyperplasia: diagnostic advances.

    Torresani T, Biason-Lauber A.

    J Inherit Metab Dis. 2007 Aug;30(4):563-75. Epub 2007 Aug 10. Erratum in: J Inherit Metab Dis. 2007 Oct;30(5):832. PMID: 17694353 [PubMed - indexed for MEDLINE]Related articles

    7.

    P450c17 deficiency: clinical and molecular characterization of six patients.

    Rosa S, Duff C, Meyer M, Lang-Muritano M, Balercia G, Boscaro M, Topaloglu AK, Mioni R, Fallo F, Zuliani L, Mantero F, Schoenle EJ, Biason-Lauber A.

    J Clin Endocrinol Metab. 2007 Mar;92(3):1000-7. Epub 2006 Dec 27.PMID: 17192295 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    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 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development.

    Arrigo T, Wasniewska M, De Luca F, Valenzise M, Lombardo F, Vivenza D, Vaccaro T, Coradi E, Biason-Lauber A.

    J Endocrinol Invest. 2006 Mar;29(3):208-13.PMID: 16682832 [PubMed - indexed for MEDLINE]Related articles

    10.

    Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity.

    Biason-Lauber A, Boehm B, Lang-Muritano M, Gauthier BR, Brun T, Wollheim CB, Schoenle EJ.

    Diabetologia. 2005 May;48(5):900-5. Epub 2005 Apr 15.PMID: 15834548 [PubMed - indexed for MEDLINE]Related articles

    11.

    The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets.

    Brun T, Franklin I, St-Onge L, Biason-Lauber A, Schoenle EJ, Wollheim CB, Gauthier BR.

    J Cell Biol. 2004 Dec 20;167(6):1123-35. Epub 2004 Dec 13.PMID: 15596543 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    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.PMID: 15317892 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    A novel mutation inducing partial androgen-insensitivity syndrome with phenotypic diversity.

    Gobet R, Lang-Muritano M, Stallmach T, Biason-Lauber A.

    BJU Int. 2003 Dec;92 Suppl 3:e34-e35. No abstract available. PMID: 19125473 [PubMed - in process]Related articles

    14.

    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.

    J Clin Endocrinol Metab. 2002 Sep;87(9):4378-82.PMID: 12213902 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

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

    Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T.

    J Clin Endocrinol Metab. 2002 Sep;87(9):4106-10.PMID: 12213856 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    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.

    Diabetes. 2002 Jul;51(7):2301-5.PMID: 12086964 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.

    Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A.

    J Clin Endocrinol Metab. 2002 Feb;87(2):898-905.PMID: 11836339 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    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.

    Eur J Pediatr. 2001 Nov;160(11):652-4.PMID: 11760020 [PubMed - indexed for MEDLINE]Related articles

    19.

    Epidemiology of type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade.

    Schoenle EJ, Lang-Muritano M, Gschwend S, Laimbacher J, Mullis PE, Torresani T, Biason-Lauber A, Molinari L.

    Diabetologia. 2001 Mar;44(3):286-9.PMID: 11317657 [PubMed - indexed for MEDLINE]Related articles

    20.

    Intra-adrenal regulation of androgen synthesis.

    l'Allemand D, Biason-Lauber A.

    Eur J Clin Invest. 2000 Dec;30 Suppl 3:28-33. Review.PMID: 11281364 [PubMed - indexed for MEDLINE]Related articles

    21.

    Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.

    Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M.

    Horm Res. 2000;53(5):260-6.PMID: 11150889 [PubMed - indexed for MEDLINE]Related articles

    22.

    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.

    Am J Hum Genet. 2000 Dec;67(6):1563-8. Epub 2000 Oct 18.PMID: 11038323 [PubMed - indexed for MEDLINE]Related articlesFree article

    23.

    Genomic structure, chromosomal localization, and expression pattern of the human LIM-homeobox3 (LHX 3) gene.

    Schmitt S, Biason-Lauber A, Betts D, Schoenle EJ.

    Biochem Biophys Res Commun. 2000 Jul 21;274(1):49-56.PMID: 10903894 [PubMed - indexed for MEDLINE]Related articles

    24.

    Effect of leptin on CYP17 enzymatic activities in human adrenal cells: new insight in the onset of adrenarche.

    Biason-Lauber A, Zachmann M, Schoenle EJ.

    Endocrinology. 2000 Apr;141(4):1446-54.PMID: 10746649 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.

    Biason-Lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, Matsuo N, Brunelli V, Schönle EJ, Zachmann M.

    J Clin Endocrinol Metab. 2000 Mar;85(3):1226-31.PMID: 10720067 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    Molecular medicine of steroid hormone biosynthesis.

    Biason-Lauber A.

    Mol Aspects Med. 1998 Jun;19(3):155-220. Review. No abstract available. PMID: 9845884 [PubMed - indexed for MEDLINE]Related articles

    27.

    A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.

    Biason-Lauber A, Leiberman E, Zachmann M.

    J Clin Endocrinol Metab. 1997 Nov;82(11):3807-12.PMID: 9360545 [PubMed - indexed for MEDLINE]Related articlesFree article

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