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1

Intra-adrenal regulation of androgen synthesis

D. L'Allemand, A. Biason-Lauber

Journal:

European Journal of Clinical Investigation

Year:

2000

Language:

english

File:

PDF, 3.29 MB

english, 2000

2

Association of childhood type 1 diabetes mellitus with a variant ofPAX4: possible link to beta cell regenerative capacity

A. Biason-Lauber, B. Boehm, M. Lang-Muritano, B. R. Gauthier, T. Brun, C. B. Wollheim, E. J. Schoenle

Journal:

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

3

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 ofPAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900–905

A. Biason-Lauber, B. Boehm, M. Lang-Muritano, B. R. Gauthier, T. Brun, C. B. Wollheim, E. J. Schoenle

Journal:

Year:

2005

Language:

english

File:

PDF, 68 KB

english, 2005

4

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 62 KB

english, 2001

5

Congenital adrenal hyperplasia: Diagnostic advances

T. Torresani, Anna Biason-Lauber

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 736 KB

english, 2007

6

Congenital adrenal hyperplasia: Diagnostic advances

T. Torresani, Anna Biason-Lauber

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

7

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

Annik Hauri-Hohl, Monika Meyer-Böni, Mariarosaria Lang-Muritano, Mathias Hauri-Hohl, Eugen J. Schoenle, Anna Biason-Lauber

Journal:

Clinical Endocrinology

Year:

2011

Language:

english

File:

PDF, 203 KB

english, 2011

8

A novel mutation inducing partial androgen–insensitivity syndrome with phenotypic diversity

R. GOBET, M. LANG-MURITANO, T. STALLMACH, A. BIASON-LAUBER

Journal:

BJU International

Year:

2003

Language:

english

File:

PDF, 107 KB

english, 2003

9

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

Mariarosaria Lang-Muritano,Anna Biason-Lauber…

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 86 KB

english, 2001

10

Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

Anna Biason-Lauber, Daniel Konrad, Monika Meyer, Carine deBeaufort, Eugen J. Schoenle

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 494 KB

english, 2009

11

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

Christa E. Flück, Monika Meyer-Böni, Amit V. Pandey, Petra Kempná, Walter L. Miller, Eugen J. Schoenle, Anna Biason-Lauber

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.21 MB

english, 2011

12

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

Christa E. Flück, Monika Meyer-Böni, Amit V. Pandey, Petra Kempná, Walter L. Miller, Eugen J. Schoenle, Anna Biason-Lauber

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 28 KB

english, 2011

13

Genomic Structure, Chromosomal Localization, and Expression Pattern of the Human LIM-Homeobox3 (LHX 3) Gene

Silke Schmitt, Anna Biason-Lauber, David Betts, Eugen J. Schoenle

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 230 KB

english, 2000

14

Control of sex development

Anna Biason-Lauber

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 775 KB

english, 2010

15

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

Pascal Philibert, Anna Biason-Lauber, Iva Gueorguieva, Chantal Stuckens, Catherine Pienkowski, Béatrice Lebon-Labich, Françoise Paris, Charles Sultan

Journal:

Fertility and Sterility

Year:

2011

Language:

english

File:

PDF, 224 KB

english, 2011

16

Molecular medicine of steroid hormone biosynthesis

Anna Biason-Lauber

Journal:

Molecular Aspects of Medicine

Year:

1998

Language:

english

File:

PDF, 4.48 MB

english, 1998

17

Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency

Anna Biason-Lauber, Eugen J. Schoenle

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 914 KB

english, 2000

18

Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes

Biason-Lauber, Anna, Böni-Schnetzler, Marianne, Hubbard, Basil P., Bouzakri, Karim, Brunner, Andrea, Cavelti-Weder, Claudia, Keller, Cornelia, Meyer-Böni, Monika, Meier, Daniel T., Brorsson, Caroline,

Journal:

Cell Metabolism

Year:

2013

Language:

english

File:

PDF, 958 KB

english, 2013

19

High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland

Steigert, M., Schoenle, E.J., Biason-Lauber, A., Torresani, T.

Journal:

The Journal of Urology

Year:

2006

Language:

english

File:

PDF, 34 KB

english, 2006

20

Of marsupials and men: “Backdoor” dihydrotestosterone synthesis in male sexual differentiation

Biason-Lauber, Anna, Miller, Walter L., Pandey, Amit V., Flück, Christa E.

Journal:

Molecular and Cellular Endocrinology

Year:

2013

Language:

english

File:

PDF, 961 KB

english, 2013

21

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

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

Journal:

Journal of Endocrinological Investigation

Year:

2006

Language:

english

File:

PDF, 191 KB

english, 2006

22

Defects of steroidogenesis

Biason-Lauber, A., Boscaro, M., Mantero, F., Balercia, G.

Journal:

Journal of Endocrinological Investigation

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

23

The Diabetes-Linked Transcription Factor PAX4 Promotes β-Cell Proliferation and Survival in Rat and Human Islets

Thierry Brun, Isobel Franklin, Luc St-Onge, Anna Biason-Lauber, Eugene J. Schoenle, Claes B. Wollheim and Benoit R. Gauthier

Journal:

The Journal of Cell Biology

Year:

2004

Language:

english

File:

PDF, 3.85 MB

english, 2004

24

Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings

Sultan, Charles, Biason-Lauber, Anna, Philibert, Pascal

Journal:

Gynecological Endocrinology

Year:

2009

Language:

english

File:

PDF, 274 KB

english, 2009

25

A WNT4 Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman

Biason-Lauber, Anna, Konrad, Daniel, Navratil, Francesca, Schoenle, Eugen J.

Journal:

Boston Medical and Surgical Journal

Year:

2004

Language:

english

File:

PDF, 243 KB

english, 2004

26

Genetic Steroid Disorders || Marsupial Pathway in Humans

Biason-Lauber, Anna

Year:

2014

Language:

english

File:

PDF, 930 KB

english, 2014

27

Genome-Wide Identification of CBX2 Targets: Insights in the Human Sex Development Network

Eid, Wassim, Opitz, Lennart, Biason-Lauber, Anna

Journal:

Molecular Endocrinology

Year:

2015

Language:

english

File:

PDF, 1.68 MB

english, 2015

28

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, E. J.

Journal:

Year:

2002

Language:

english

File:

PDF, 387 KB

english, 2002

29

WNT4 and Sex Development

Biason-Lauber, A., Konrad, D.

Journal:

Sexual Development

Year:

2008

Language:

english

File:

PDF, 539 KB

english, 2008

30

17α-Hydroxylase/17,20-Lyase Deficiency as a Model to Study Enzymatic Activity Regulation: Role of Phosphorylation 1

Biason-Lauber, Anna, Kempken, Bianca, Werder, Edmond, Forest, Maguelone G., Einaudi, Silvia, Ranke, Michael B., Matsuo, Nobutake, Brunelli, Valeria, Schönle, Eugen J., Zachmann, Milo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2000

Language:

english

File:

PDF, 502 KB

english, 2000

31

Combined 17α-Hydroxylase/17,20-Lyase Deficiency Caused by Phe93Cys Mutation in the CYP17 Gene

Di Cerbo, Alfredo, Biason-Lauber, Anna, Savino, Maria, Piemontese, Maria Rosaria, Di Giorgio, Anna, Perona, Marco, Savoia, Anna

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 236 KB

english, 2002

32

Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism

Biason-Lauber, Anna, Suter, Stephan L., Shackleton, Cedric H.L., Zachmann, Milo

Journal:

Hormone Research

Year:

2000

Language:

english

File:

PDF, 238 KB

english, 2000

33

Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency

Rosa, S., Steigert, M., Lang-Muritano, M., l’Allemand, D., Schoenle, E.J., Biason-Lauber, A.

Journal:

Hormone Research in Paediatrics

Year:

2010

Language:

english

File:

PDF, 627 KB

english, 2010

34

Successful Use of Omalizumab in an Inadequately Controlled Type 2 Diabetic Patient With Severe Insulin Allergy

Cavelti-Weder, C., Muggli, B., Keller, C., Babians-Brunner, A., Biason-Lauber, A., Donath, M. Y., Schmid-Grendelmeier, P.

Journal:

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

35

Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

Lavery, Gareth G., Walker, Elizabeth A., Tiganescu, Ana, Ride, Jon P., Shackleton, Cedric H. L., Tomlinson, Jeremy W., Connell, John M. C., Ray, David W., Biason-Lauber, Anna, Malunowicz, Ewa M., Arlt

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 181 KB

english, 2008

36

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, Pascal, Biason-Lauber, Anna, Rouzier, Roman, Pienkowski, Catherine, Paris, Françoise, Konrad, Daniel, Schoenle, Eugene, Sultan, Charles

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 242 KB

english, 2008

37

High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland

Steigert, Michael, Schoenle, Eugen J., Biason-Lauber, Anna, Torresani, Toni

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 65 KB

english, 2002

38

WNT4, RSPO1, and FOXL2 in Sex Development

Biason-Lauber, Anna

Journal:

Seminars in Reproductive Medicine

Year:

2012

Language:

english

File:

PDF, 313 KB

english, 2012

39

P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

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

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 507 KB

english, 2007

40

Complete Androgen Insensitivity Syndrome Caused by a Novel Mutation in the Ligand-Binding Domain of the Androgen Receptor: Functional Characterization

Rosa, Stephanie, Biason-Lauber, Anna, Mongan, Nigel P., Navratil, Francesca, Schoenle, Eugen J.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 290 KB

english, 2002

41

A Single Amino Acid Substitution in the Putative Redox Partner-Binding Site of P450c17 as Cause of Isolated 17,20-Lyase Deficiency 1

Biason-Lauber, A., Leiberman, E., Zachmann, M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1997

Language:

english

File:

PDF, 3.57 MB

english, 1997

42

Ovarian development and disease: The known and the unexpected

Biason-Lauber, Anna, Chaboissier, Marie-Christine

Journal:

Seminars in Cell & Developmental Biology

Year:

2015

Language:

english

File:

PDF, 1.78 MB

english, 2015

43

Effect of Leptin on CYP17 Enzymatic Activities in Human Adrenal Cells: New Insight in the Onset of Adrenarche 1

Biason-Lauber, Anna, Zachmann, Milo, Schoenle, Eugen J.

Journal:

Year:

2000

Language:

english

File:

PDF, 2.35 MB

english, 2000

44

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, E.J.

Journal:

Human Reproduction

Year:

2006

Language:

english

File:

PDF, 1.49 MB

english, 2006

45

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

Paris, F., Gaspari, L., Mbou, F., Philibert, P., Audran, F., Morel, Y., Biason-Lauber, A., Sultan, C.

Journal:

Year:

2016

Language:

english

File:

PDF, 453 KB

english, 2016

46

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

Gerster, Karine, Biason-Lauber, Anna, Schoenle, Eugen J.

Journal:

Annales d'Endocrinologie

Year:

2017

File:

PDF, 836 KB

2017

47

Effects of Steroid Hormones on Sex Differences in Cerebral Perfusion

Ghisleni, Carmen, Bollmann, Steffen, Biason-Lauber, Anna, Poil, Simon-Shlomo, Brandeis, Daniel, Martin, Ernst, Michels, Lars, Hersberger, Martin, Suckling, John, Klaver, Peter, O'Gorman, Ruth L., Rao,

Journal:

Year:

2015

Language:

english

File:

PDF, 2.90 MB

english, 2015

48

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

Sproll, Patrick, Eid, Wassim, Gomes, Camila R., Mendonca, Berenice B., Gomes, Nathalia L., Costa, Elaine M.-F., Biason-Lauber, Anna

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 2.16 MB

english, 2018

49

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

Lang-Muritano, Mariarosaria, Sproll, Patrick, Wyss, Sascha, Kolly, Anne, Hürlimann, Renate, Konrad, Daniel, Biason-Lauber, Anna

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2018

Language:

english

File:

PDF, 551 KB

english, 2018

50

A Human Gonadal Cell Model From Induced Pluripotent Stem Cells

Rodríguez Gutiérrez, Daniel, Eid, Wassim, Biason-Lauber, Anna

Journal:

Frontiers in Genetics

Year:

2018

Language:

english

File:

PDF, 10.87 MB

english, 2018