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 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 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. ncbi A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 164:1277-83. 2014
  6. ncbi High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power
    Beatrice Oneda
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Prenat Diagn 34:525-33. 2014
  7. doi 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
  • Maria Kirchhoff
  • Nicole Ochsenbein-Kölble
  • Joris Andrieux
  • Christiane Zweier
  • Andreas M E Koch
  • Pavel Krejci
  • Beatrice Oneda
  • Reza Asadollahi
  • Rosa Baldinger
  • Pascal Joset
  • Alessandra Baumer
  • Anne Gregor
  • Juliane Hoyer
  • Ralf Rauch
  • Gundula Hebisch
  • Christian Breymann
  • Elke Prentl
  • René Mueller
  • Regina Reissmann
  • Irina Reshetnikova
  • Katharina Steindl
  • Margaret Hüsler
  • Dunja Niedrist
  • Roland Zimmermann
  • Denise Morotti
  • Josef Wisser
  • Rahim Masood
  • Marzia Faranda
  • Walter Knirsch
  • Gunnar Houge
  • Beatrice Latal
  • Soaham Desai
  • Silvia Azzarello-Burri
  • Frenny Sheth
  • Arif B Ekici
  • Denise Horn
  • Reinhard Ullmann
  • Eva Prott
  • Jakub Klapecki
  • Eva Wohlleber
  • Emilia K Bijlsma
  • Karl Hackmann
  • Geoffrey Woods
  • Andre Reis
  • Beate Albrecht
  • Hartmut Engels
  • Ingrid Bader
  • Sandra Nagl
  • Jurgen Kohlhase
  • Sigrid Tinschert
  • Isabelle Maystadt
  • Helmut Singer
  • Udo Trautmann
  • Renate Kaulitz
  • Stefan Zink
  • Michael Hofbeck

Detail Information

Publications7

  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 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 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. ncbi A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 164:1277-83. 2014
    ..2014 Wiley Periodicals, Inc. ..
  6. ncbi High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power
    Beatrice Oneda
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Prenat Diagn 34:525-33. 2014
    ..The objective of this study was to determine for the first time the reliability and the diagnostic power of high-resolution microarray testing in routine prenatal diagnostics...
  7. doi 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...