Kinetin Impairs Gh-1 Splicing in an in Vitro Model of Growth Hormone Deficiency Type Ii
Miletta, M. C. and Biason-Lauber, A. and Bozzola, M. and Fluck, C. E., Hormone Research in Paediatrics 88 (2017), 123-124 | Article

A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
Gerster, K. and Katschnig, C. and Wyss, S. and Kolly, A. and Sproll, P. and Biason-Lauber, A. and Konrad, D., Journal of Pediatric Endocrinology & Metabolism 30.12 (2017), 1321-1325 | Article

Human Sex Development: from Basic Science to Clinical Practice and Back
Biason-Lauber, A., Pediatric Endocrinology Reviews Per 15.1 (2017), 8-20 | Article

Clinical follow-up of the first SF-1 insufficient female patient
Gerster, K. and Biason-Lauber, A. and Schoenle, E. J., Annales D Endocrinologie 78.3 (2017), 156-161 | Article

Pediatricians' affective communication behavior attenuates parents' stress response during the medical interview
Gemmiti, M. and Hamed, S. and Lauber-Biason, A. and Wildhaber, J. and Pharisa, C. and Klumb, P. L., Patient Education and Counseling 100.3 (2017), 480-486 | Article

Incidence and major characteristics of gestational diabetes mellitus with the new IADPSG criteria: updated data of a Cantonal hospital in Switzerland
Savopol, H. and Fontana, E. and Richii, M. and Magnin, J. L. and Ben Ali, N. and Ducry, J. and Lauber-Biason, A., Diabetologia 59 (2016), S451-S451 | Article

A Novel Mutation of DAX-1 (NR0B1) in a Boy with X-linked Adrenal Hypoplasia Congenita
Gerster, K. and Katschnig, C. and Wyss, S. and Kolly, A. and Biason-Lauber, A. and Konrad, D., Hormone Research in Paediatrics 86 (2016), 149-150 | Article

Why boys will be boys and girls will be girls: Human sex development and its defects
Eid, W. and Biason-Lauber, A., Birth Defects Research Part C-Embryo Today-Reviews 108.4 (2016), 365-379 | Article

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia
Paris, F. and Gaspari, L. and Mbou, F. and Philibert, P. and Audran, F. and Morel, Y. and Biason-Lauber, A. and Sultan, C., Andrology 4.2 (2016), 263-269 | Article

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency
Korner, G. and Noain, D. and Ying, M. and Hole, M. and Flydal, M. I. and Scherer, T. and Allegri, G. and Rassi, A. and Fingerhut, R. and Becu-Villalobos, D. and Pillai, S. and Wueest, S. and Konrad, D. and Lauber-Biason, A. and Baumann, C. R. and Bindoff, L. A. and Martinez, A. and Thony, B., Brain 138 (2015), 2948-2963 | Article

Effects of Steroid Hormones on Sex Differences in Cerebral Perfusion
Ghisleni, C. and Bollmann, S. and Biason-Lauber, A. and Poil, S. S. and Brandeis, D. and Martin, E. and Michels, L. and Hersberger, M. and Suckling, J. and Klaver, P. and O'Gorman, R. L., Plos One 10.9 (2015) | Article

Ovarian development and disease: The known and the unexpected
Biason-Lauber, A. and Chaboissier, M. C., Seminars in Cell & Developmental Biology 45 (2015), 59-67 | Article

Genome-Wide Identification of CBX2 Targets: Insights in the Human Sex Development Network
Eid, W. and Opitz, L. and Biason-Lauber, A., Molecular Endocrinology 29.2 (2015), 247-257 | Article

CBX2 in Sex Development: Identifying CBX2 Binding Targets in the Human Genome
Eid, W. and Opitz, L. and Lauber-Biason, A., Endocrine Reviews 35.3 (2014) | Article

Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation
Biason-Lauber, A. and Miller, W. L. and Pandey, A. V. and Fluck, C. E., Molecular and Cellular Endocrinology 371.1-2 (2013), 124-132 | Article

Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes
Biason-Lauber, A. and Boni-Schnetzler, M. and Hubbard, B. P. and Bouzakri, K. and Brunner, A. and Cavelti-Weder, C. and Keller, C. and Meyer-Boni, M. and Meier, D. T. and Brorsson, C. and Timper, K. and Leibowitz, G. and Patrignani, A. and Bruggmann, R. and Boily, G. and Zulewski, H. and Geier, A. and Cermak, J. M. and Elliott, P. and Ellis, J. L. and Westphal, C. and Knobel, U. and Eloranta, J. J. and Kerr-Conte, J. and Pattou, F. and Konrad, D. and Matter, C. M. and Fontana, A. and Rogler, G. and Schlapbach, R. and Regairaz, C. and Carballido, J. M. and Glaser, B. and McBurney, M. W. and Pociot, F. and Sinclair, D. A. and Donath, M. Y., Cell Metabolism 17.3 (2013), 448-455 | Article

WNT4, RSPO1, and FOXL2 in Sex Development
Biason-Lauber, A., Seminars in Reproductive Medicine 30.5 (2012), 387-395 | Article

Successful Use of Omalizumab in an Inadequately Controlled Type 2 Diabetic Patient With Severe Insulin Allergy
Cavelti-Weder, C. and Muggli, B. and Keller, C. and Babians-Brunner, A. and Biason-Lauber, A. and Donath, M. Y. and Schmid-Grendelmeier, P., Diabetes Care 35.6 (2012), E41-E41 | Article

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation
Fluck, C. E. and Meyer-Boni, M. and Pandey, A. V. and Kempna, P. and Miller, W. L. and Schoenle, E. J. and Biason-Lauber, A., American Journal of Human Genetics 89.2 (2011), 201-218 | Article

Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene
Hauri-Hohl, A. and Meyer-Boni, M. and Lang-Muritano, M. and Hauri-Hohl, M. and Schoenle, E. J. and Biason-Lauber, A., Clinical Endocrinology 75.1 (2011), 39-43 | Article

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Kuster-Hauser syndrome)
Philibert, P. and Biason-Lauber, A. and Gueorguieva, I. and Stuckens, C. and Pienkowski, C. and Lebon-Labich, B. and Paris, F. and Sultan, C., Fertility and Sterility 95.8 (2011), 2683-2686 | Article

Mutation in SIRT1 in familial type 1 diabetes
Boni-Schnetzler, M. and Biason-Lauber, A. and Hubbard, B. P. and Bouzakri, K. and Meyer-Boni, M. and Meier, D. and Pociot, F. and Leibowitz, G. and Glaser, B. and Zulewski, H. and Westphal, C. and Sinclair, D. A. and Donath, M. Y., Diabetologia 53 (2010), S121-S121 | Article

CBX2 and Human Sex Development: Insights in the Mechanism of Action.
Biason-Lauber, A. and Meyer, M. and Konrad, D. and de Beaufort, C. and Schoenle, E. J., Endocrine Reviews 31.3 (2010), S1669-S1669 | Article

Defects of steroidogenesis
Biason-Lauber, A. and Boscaro, M. and Mantero, F. and Balercia, G., Journal of Endocrinological Investigation 33.10 (2010), 756-766 | Article

Control of sex development
Biason-Lauber, A., Best Practice & Research Clinical Endocrinology & Metabolism 24.2 (2010), 163-186 | Article

Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17 alpha-Hydroxylase/17,20-Lyase Deficiency
Rosa, S. and Steigert, M. and Lang-Muritano, M. and l'Allemand, D. and Schoenle, E. J. and Biason-Lauber, A., Hormone Research in Paediatrics 73.3 (2010), 198-204 | Article

Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene
Biason-Lauber, A. and Konrad, D. and Meyer, M. and DeBeaufort, C. and Schoenle, E. J., American Journal of Human Genetics 84.5 (2009), 658-663 | Article

Mayer-Rokitansky-Kuster-Hauser syndrome: Recent clinical and genetic findings
Sultan, C. and Biason-Lauber, A. and Philibert, P., Gynecological Endocrinology 25.1 (2009), 8-11 | Article

Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency
Lavery, G. G. and Walker, E. A. and Tiganescu, A. and Ride, J. P. and Shackleton, C. H. L. and Tomlinson, J. W. and Connell, J. M. C. and Ray, D. W. and Biason-Lauber, A. and Malunowicz, E. M. and Arlt, W. and Stewart, P. M., Journal of Clinical Endocrinology & Metabolism 93.10 (2008), 3827-3832 | Article

Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: A French collaborative study
Philibert, P. and Biason-Lauber, A. and Rouzier, R. and Pienkowski, C. and Paris, F. and Konrad, D. and Schoenle, E. and Sultan, C., Journal of Clinical Endocrinology & Metabolism 93.3 (2008), 895-900 | Article

WNT4 and Sex Development
Biason-Lauber, A. and Konrad, D., Sexual Development 2.4-5 (2008), 210-218 | Article

Congenital adrenal hyperplasia: Diagnostic advances (Vol 30, pg 563, 2007)
Torresani, T. and Biason-Lauber, A., Journal of Inherited Metabolic Disease 30.5 (2007), 832-832 | Article

Congenital adrenal hyperplasia: Diagnostic advances
Torresani, T. and Biason-Lauber, A., Journal of Inherited Metabolic Disease 30.4 (2007), 563-575 | Article

P450c17 deficiency: Clinical and molecular characterization of six patients
Rosa, S. and Duff, C. and Meyer, M. and Lang-Muritano, M. and Balercia, G. and Boscaro, M. and Topaloglu, A. K. and Mioni, R. and Fallo, F. and Zuliani, L. and Mantero, F. and Schoenle, E. J. and Biason-Lauber, A., Journal of Clinical Endocrinology & Metabolism 92.3 (2007), 1000-1007 | Article

WNT4 deficiency - a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A case report
Biason-Lauber, A. and De Filippo, G. and Konrad, D. and Scarano, G. and Nazzaro, A. and Schoenle, E. J., Human Reproduction 22.1 (2007), 224-229 | Article

Congenital adenohypophysis aplasia: Clinical features and analysis of the transcriptional factors for embryonic pituitary development
Arrigo, T. and Wasniewska, M. and De Luca, F. and Valenzise, M. and Lombardo, F. and Vivenza, D. and Vaccaro, T. and Coradi, E. and Biason-Lauber, A., Journal of Endocrinological Investigation 29.3 (2006), 208-213 | Article

Genotype-phenotype inconsistency in a MODY5 family with a new mutation in the TCF2 gene, encoding hepatocyte nuclear factor 1-beta (HNF1beta): Is MODY5 a multifactorial disease?
Konrad, D. and Lang-Muritano, M. and Vaccaro, T. and Schoenle, E. J. and Biason-Lauber, A., Diabetes 54 (2005), A280-A281 | Article

Reply to comment on: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48 : 900-905
Biason-Lauber, A. and Boehm, B. and Lang-Muritano, M. and Gauthier, B. R. and Brun, T. and Wollheim, C. B. and Schoenle, E. J., Diabetologia 48.10 (2005), 2185-2186 | Article

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity
Biason-Lauber, A. and Boehm, B. and Lang-Muritano, M. and Gauthier, B. R. and Brun, T. and Wollheim, C. B. and Schoenle, E. J., Diabetologia 48.5 (2005), 900-905 | Article

A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman
Biason-Lauber, A. and Konrad, D. and Navratil, F. and Schoenle, E. J., New England Journal of Medicine 351.8 (2004), 792-798 | Article

Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: Functional characterization
Rosa, S. and Biason-Lauber, A. and Mongan, N. P. and Navratil, F. and Schoenle, E. J., Journal of Clinical Endocrinology & Metabolism 87.9 (2002), 4378-4382 | Article

High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland
Steigert, M. and Schoenle, E. J. and Biason-Lauber, A. and Torresani, T., Journal of Clinical Endocrinology & Metabolism 87.9 (2002), 4106-4110 | Article

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
Biason-Lauber, A. and Lang-Muritano, M. and Vaccaro, T. and Schoenle, E. J., Diabetes 51.7 (2002), 2301-2305 | Article

Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene
Di Cerbo, A. and Biason-Lauber, A. and Savino, M. and Piemontese, M. R. and Di Giorgio, A. and Perona, M. and Savoia, A., Journal of Clinical Endocrinology & Metabolism 87.2 (2002), 898-905 | Article

Novel mutation in the ElF2AK3 gene in a case of Wolcott-Rallison syndrome.
Biason-Lauber, A. and Lang-Muritano, M. and Schoenle, E. J., American Journal of Human Genetics 69.4 (2001), 615-615 | Article

A novel mutation in the anti-mullerian hormone gene as cause of persistent mullerian duct syndrome
Lang-Muritano, M. and Biason-Lauber, A. and Gitzelmann, C. and Belville, C. and Picard, Y. and Schoenle, E. J., European Journal of Pediatrics 160.11 (2001), 652-654 | Article

Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade
Schoenle, E. J. and Lang-Muritano, M. and Gschwend, S. and Laimbacher, J. and Mullis, P. E. and Torresani, T. and Biason-Lauber, A. and Molinari, L., Diabetologia 44.3 (2001), 286-289 | Article

Intra-adrenal regulation of androgen synthesis
l'Allemand, D. and Biason-Lauber, A., Eur J Clin Invest 30 Suppl 3 (2000), 28-33 | Article

Intra-adrenal regulation of androgen synthesis
I'Allemand, D. and Biason-Lauber, A., European Journal of Clinical Investigation 30 (2000), 28-33 | Article

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency
Biason-Lauber, A. and Schoenle, E. J., American Journal of Human Genetics 67.6 (2000), 1563-1568 | Article

Genomic structure, chromosomal localization, and expression pattern of the human LIM-Homeobox3 (LHX 3) gene
Schmitt, S. and Biason-Lauber, A. and Betts, D. and Schoenle, E. J., Biochemical and Biophysical Research Communications 274.1 (2000), 49-56 | Article

Effect of leptin on CYP17 enzymatic activates in human adrenal cells: New insight in the onset of adrenarche
Biason-Lauber, A. and Zachmann, M. and Schoenle, E. J., Endocrinology 141.4 (2000), 1446-1454 | Article

Apparent cortisone reductase deficiency: A rare cause of hyperandrogenemia and hypercortisolism
Biason-Lauber, A. and Suter, S. L. and Shackleton, C. H. L. and Zachmann, M., Hormone Research 53.5 (2000), 260-266 | Article

Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism
Biason-Lauber, A. and Suter, S. L. and Shackleton, C. H. and Zachmann, M., Horm Res 53.5 (2000), 260-6 | Article

Effect of leptin on CYP17 enzymatic activities in human adrenal cells: new insight in the onset of adrenarche
Biason-Lauber, A. and Zachmann, M. and Schoenle, E. J., Endocrinology 141.4 (2000), 1446-54 | Article

17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation
Biason-Lauber, A. and Kempken, B. and Werder, E. and Forest, M. G. and Einaudi, S. and Ranke, M. B. and Matsuo, N. and Brunelli, V. and Schonle, E. J. and Zachmann, M., J Clin Endocrinol Metab 85.3 (2000), 1226-31 | Article

Molecular medicine of steroid hormone biosynthesis
Biason-Lauber, A., Mol Aspects Med 19.3 (1998), 155-220 | Article

Molecular medicine of steroid hormone biosynthesis - Introduction
Biason-Lauber, A., Molecular Aspects of Medicine 19.3 (1998), 155-+ | Article

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. and Leiberman, E. and Zachmann, M., J Clin Endocrinol Metab 82.11 (1997), 3807-12 | Article