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 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
  3. 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
  4. 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
  5. doi 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. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications11

  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 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...
  3. 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...
  4. 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...
  5. doi 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. 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...
  9. 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...
  10. 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...
  11. 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...