Anna Biason-Lauber

Summary

Affiliation: University of Zurich
Country: Switzerland

Publications

  1. ncbi Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization
    Stephanie Rosa
    Department of Endocrinology, University Children s Hospital, 8032 Zurich, Switzerland
    J Clin Endocrinol Metab 87:4378-82. 2002
  2. ncbi Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity
    A Biason-Lauber
    Department of Paediatric Endocrinology Diabetology, University Children s Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Diabetologia 48:900-5. 2005
  3. ncbi Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
    Anna Biason-Lauber
    University Children s Hospital, Division of Pediatric Endocrinology Diabetology, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Diabetes 51:2301-5. 2002
  4. ncbi A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman
    Anna Biason-Lauber
    Division of Pediatric Endocrinology and Diabetology, University Children s Hospital, Zurich, Switzerland
    N Engl J Med 351:792-8. 2004
  5. ncbi Control of sex development
    Anna Biason-Lauber
    Division of Endocrinology Diabetology, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Best Pract Res Clin Endocrinol Metab 24:163-86. 2010
  6. pmc Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene
    Anna Biason-Lauber
    Division of Endocrinology Diabetology, University Children s Hospital, 8032 Zurich, Switzerland
    Am J Hum Genet 84:658-63. 2009
  7. ncbi Congenital adrenal hyperplasia: diagnostic advances
    T Torresani
    Department of Endocrinology and Diabetology, University Children s Hospitals, Zurich, Switzerland
    J Inherit Metab Dis 30:563-75. 2007
  8. ncbi Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene
    Annik Hauri-Hohl
    Division of Endocrinology and Diabetology, University Children s Hospital ZürichDivision of Pediatrics, University Children s Hospital Zurich, Zurich, Switzerland
    Clin Endocrinol (Oxf) 75:39-43. 2011
  9. ncbi High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland
    Michael Steigert
    Department of Endocrinology and Diabetology, University Children s Hospital, CH 8032 Zurich, Switzerland
    J Clin Endocrinol Metab 87:4106-10. 2002
  10. doi 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
    Pascal Philibert
    Service d Hormonologie, Hopital Lapeyronie, Centre Hospitalier Universitaire Montpellier, 34295 Montpellier Cedex 5, France
    J Clin Endocrinol Metab 93:895-900. 2008

Collaborators

Detail Information

Publications12

  1. ncbi Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization
    Stephanie Rosa
    Department of Endocrinology, University Children s Hospital, 8032 Zurich, Switzerland
    J Clin Endocrinol Metab 87:4378-82. 2002
    ....
  2. ncbi Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity
    A Biason-Lauber
    Department of Paediatric Endocrinology Diabetology, University Children s Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Diabetologia 48:900-5. 2005
    ..To study the role of islet cell regeneration in the pathogenesis of type 1 diabetes, we focused on PAX4, a paired homeodomain transcriptional repressor that is involved in islet cell growth...
  3. ncbi Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
    Anna Biason-Lauber
    University Children s Hospital, Division of Pediatric Endocrinology Diabetology, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Diabetes 51:2301-5. 2002
    ..Our data demonstrate that EIF2AK3 kinase activity is essential for pancreas islet function and bone development in humans, and we suggest EIF2AK3 as a possible target for therapeutic intervention in diabetes...
  4. ncbi A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman
    Anna Biason-Lauber
    Division of Pediatric Endocrinology and Diabetology, University Children s Hospital, Zurich, Switzerland
    N Engl J Med 351:792-8. 2004
    ..WNT4 appears to be important in the development and maintenance of the female phenotype in women, by means of the regulation of müllerian-duct formation and control of ovarian steroidogenesis...
  5. ncbi Control of sex development
    Anna Biason-Lauber
    Division of Endocrinology Diabetology, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Best Pract Res Clin Endocrinol Metab 24:163-86. 2010
    ..This review focuses on these factors and whenever possible, references regarding the 'prismatic' clinical cases are given...
  6. pmc Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene
    Anna Biason-Lauber
    Division of Endocrinology Diabetology, University Children s Hospital, 8032 Zurich, Switzerland
    Am J Hum Genet 84:658-63. 2009
    ....
  7. ncbi Congenital adrenal hyperplasia: diagnostic advances
    T Torresani
    Department of Endocrinology and Diabetology, University Children s Hospitals, Zurich, Switzerland
    J Inherit Metab Dis 30:563-75. 2007
    ..This discussion will be limited to the most common form of congenital adrenal hyperplasia, with focus on the diagnostic advances in this disease...
  8. ncbi Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene
    Annik Hauri-Hohl
    Division of Endocrinology and Diabetology, University Children s Hospital ZürichDivision of Pediatrics, University Children s Hospital Zurich, Zurich, Switzerland
    Clin Endocrinol (Oxf) 75:39-43. 2011
    ..Aromatase deficiency in women is a rare 46, XX disorder of sex differentiation characterized by a defect in catalysing oestrogens from androgens...
  9. ncbi High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland
    Michael Steigert
    Department of Endocrinology and Diabetology, University Children s Hospital, CH 8032 Zurich, Switzerland
    J Clin Endocrinol Metab 87:4106-10. 2002
    ..With a sensitivity of 97%, a specificity of 99.99%, and a positive predictive value of 50%, the Zurich neonatal screening program for CAH can be considered highly reliable...
  10. doi 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
    Pascal Philibert
    Service d Hormonologie, Hopital Lapeyronie, Centre Hospitalier Universitaire Montpellier, 34295 Montpellier Cedex 5, France
    J Clin Endocrinol Metab 93:895-900. 2008
    ..The WNT4 mutation was recently reported to be associated with failure of müllerian duct formation and virilization in two 46, XX women...
  11. pmc The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets
    Thierry Brun
    Department of Cell Physiology and Metabolism, University Medical Center, Geneva, Switzerland
    J Cell Biol 167:1123-35. 2004
    ..We propose that Pax4 is implicated in beta-cell plasticity through the activation of c-myc and potentially protected from apoptosis through Bcl-xL gene expression...
  12. ncbi Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene
    Alfredo Di Cerbo
    Division and Research Unit of Endocrinology and Department of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
    J Clin Endocrinol Metab 87:898-905. 2002
    ..Our results shed more light on the structure-function relationship of the CYP17 protein indicating that Phe 93 is crucial for both enzymatic activities...