Anita Rauch

Summary

Country: Switzerland

Publications

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
  2. doi request reprint Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
    Ralf Rauch
    Institute of Medical Genetics, Schorenstrasse 16, CH 8603 Zurich Schwerzenbach, Switzerland
    J Med Genet 47:321-31. 2010
  3. doi request reprint The shortest of the short: pericentrin mutations and beyond
    Anita Rauch
    Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach Zurich, Switzerland
    Best Pract Res Clin Endocrinol Metab 25:125-30. 2011
  4. pmc Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
    Reza Asadollahi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Eur J Hum Genet 21:1100-4. 2013
  5. doi request reprint Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Med Genet A 161:1853-9. 2013

Collaborators

  • Deborah Bartholdi
  • Christiane Zweier
  • Andreas M E Koch
  • Reza Asadollahi
  • Anne Gregor
  • Juliane Hoyer
  • Ralf Rauch
  • Soaham Desai
  • Frenny Sheth
  • Alessandra Baumer
  • Beatrice Oneda
  • Rosa Baldinger
  • Joris Andrieux
  • Pascal Joset
  • Walter Knirsch
  • Gunnar Houge
  • Beatrice Latal
  • Silvia Azzarello-Burri
  • Denise Horn
  • Emilia K Bijlsma
  • Beate Albrecht
  • Hartmut Engels
  • Ingrid Bader
  • Jurgen Kohlhase
  • Arif B Ekici
  • Reinhard Ullmann
  • Eva Prott
  • Jakub Klapecki
  • Eva Wohlleber
  • Karl Hackmann
  • Geoffrey Woods
  • Andre Reis
  • Sandra Nagl
  • Sigrid Tinschert
  • Isabelle Maystadt
  • Helmut Singer
  • Udo Trautmann
  • Renate Kaulitz
  • Stefan Zink
  • Michael Hofbeck

Detail Information

Publications5

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  2. doi request reprint Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
    Ralf Rauch
    Institute of Medical Genetics, Schorenstrasse 16, CH 8603 Zurich Schwerzenbach, Switzerland
    J Med Genet 47:321-31. 2010
    ..In order to get further insight into genotype-phenotype correlation, a large cohort of 230 unselected patients with ToF was comprehensively investigated...
  3. doi request reprint The shortest of the short: pericentrin mutations and beyond
    Anita Rauch
    Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach Zurich, Switzerland
    Best Pract Res Clin Endocrinol Metab 25:125-30. 2011
    ..There is clinical overlap with the so called Seckel syndrome, a heterogeneous group of entities with at least four different gene loci known to date...
  4. pmc Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
    Reza Asadollahi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Eur J Hum Genet 21:1100-4. 2013
    ..The clinical features suggesting a neurocristopathy may be explained by animal model studies indicating involvement of the Mediator complex subunit 13 in neural crest induction...
  5. doi request reprint Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Med Genet A 161:1853-9. 2013
    ..In conclusion, we report the first patients with a homozygous 2p21 deletion syndrome without cystinuria and further delineate the complex genotype-phenotype correlations of homozygous microdeletion syndromes of this region...