Stefanie Birnbaum

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. ncbi A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 143:205-7. 2007
  2. doi Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany
    Eur J Oral Sci 117:200-3. 2009
  3. doi IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Eur J Oral Sci 117:766-9. 2009
  4. doi Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 146:787-90. 2008
  5. doi Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Cleft Palate Craniofac J 45:267-71. 2008
  6. doi Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Int J Pediatr Otorhinolaryngol 73:1334-8. 2009
  7. doi Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Nat Genet 41:473-7. 2009
  8. doi TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Wilhelmstr 31, 53111, Bonn, Germany
    J Hum Genet 53:656-61. 2008
  9. doi Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin
    Elisabeth Mangold
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Am J Med Genet A 149:2680-94. 2009
  10. doi Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
    Elisabeth Mangold
    Institute of Human Genetics, Life and Brain Center, University of Bonn, Bonn, Germany
    Nat Genet 42:24-6. 2010

Collaborators

Detail Information

Publications11

  1. ncbi A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 143:205-7. 2007
  2. doi Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany
    Eur J Oral Sci 117:200-3. 2009
    ..Our results thus confirm the potential involvement of MYH9 in the etiology of NSCL/P in our patients of Central European origin, although further studies are warranted to determine its exact pathogenetic role...
  3. doi IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Eur J Oral Sci 117:766-9. 2009
    ..In order to understand fully the genetic architecture of the IRF6 locus, it will be necessary to conduct additional SNP-based and resequencing studies using large samples of patients...
  4. doi Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 146:787-90. 2008
  5. doi Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Cleft Palate Craniofac J 45:267-71. 2008
    ..This study involved a family-based association study of the MTHFR polymorphism...
  6. doi Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Int J Pediatr Otorhinolaryngol 73:1334-8. 2009
    ..In order to re-evaluate the relevance of these findings, we carried out a family-based association study among 218 NSCL/P families of Central European descent...
  7. doi Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Nat Genet 41:473-7. 2009
    ..05 (95% CI = 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P...
  8. doi TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Wilhelmstr 31, 53111, Bonn, Germany
    J Hum Genet 53:656-61. 2008
    ..47; CI: 1.32-9.11). Our data support the involvement of TGFB3 in the development of oral clefts in patients of central European origin...
  9. doi Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin
    Elisabeth Mangold
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Am J Med Genet A 149:2680-94. 2009
    ..Further research in large patient samples is necessary to identify factors common to NSCL/P and NSCPO...
  10. doi Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
    Elisabeth Mangold
    Institute of Human Genetics, Life and Brain Center, University of Bonn, Bonn, Germany
    Nat Genet 42:24-6. 2010
    ..07 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56)...
  11. ncbi Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
    Antje Brockschmidt
    1Institute of Human Genetics, Rheinische Friedrich Wilhelms University, 53111 Bonn, Germany
    Hum Mol Genet 16:1488-94. 2007
    ..Our results show that haploinsufficiency of TCF4 causes PHS and suggest that D. rerio is a valuable model to study the molecular pathogenesis of PHS and the role of TCF4 in brain development...