Nicole Weisschuh

Summary

Country: Germany

Publications

  1. ncbi A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia
    Nicole Weisschuh
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Mol Vis 18:751-7. 2012
  2. ncbi A clinical and molecular genetic study of German patients with primary congenital glaucoma
    Nicole Weisschuh
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Am J Ophthalmol 147:744-53. 2009
  3. ncbi A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly
    N Weisschuh
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tuebingen, Tuebingen, Germany
    Clin Genet 74:476-80. 2008
  4. ncbi Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, D 72076 Tuebingen, Germany
    Exp Eye Res 85:450-61. 2007
  5. ncbi Variations in the WDR36 gene in German patients with normal tension glaucoma
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany
    Mol Vis 13:724-9. 2007
  6. ncbi Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, Tubingen, Germany
    Invest Ophthalmol Vis Sci 47:3846-52. 2006
  7. ncbi Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, University of Tuebingen, Tuebingen, Germany
    Mol Vis 11:284-7. 2005
  8. ncbi Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany
    BMC Genet 11:8. 2010
  9. ncbi Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Eberhard Karls University, Tuebingen, Germany
    J Glaucoma 19:136-41. 2010
  10. ncbi Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    BMC Med Genet 10:91. 2009

Detail Information

Publications11

  1. ncbi A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia
    Nicole Weisschuh
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Mol Vis 18:751-7. 2012
    ..To identify the underlying genetic cause in a two generation German family diagnosed with isolated aniridia...
  2. ncbi A clinical and molecular genetic study of German patients with primary congenital glaucoma
    Nicole Weisschuh
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Am J Ophthalmol 147:744-53. 2009
    ..To estimate an accurate incidence rate for CYP1B1 mutations in German patients with primary congenital glaucoma (PCG)...
  3. ncbi A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly
    N Weisschuh
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tuebingen, Tuebingen, Germany
    Clin Genet 74:476-80. 2008
    ..In this pedigree, all affected family members were diagnosed with ARS except for one who shows bilateral Peters' anomaly. Our findings support the role of FOXC1 mutations in the spectrum of ASD...
  4. ncbi Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, D 72076 Tuebingen, Germany
    Exp Eye Res 85:450-61. 2007
    ....
  5. ncbi Variations in the WDR36 gene in German patients with normal tension glaucoma
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany
    Mol Vis 13:724-9. 2007
    ..To determine the prevalence of WDR36 sequence variants in a cohort of German patients with normal tension glaucoma...
  6. ncbi Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, Tubingen, Germany
    Invest Ophthalmol Vis Sci 47:3846-52. 2006
    ..To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations...
  7. ncbi Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, University of Tuebingen, Tuebingen, Germany
    Mol Vis 11:284-7. 2005
    ..To determine the prevalence of optineurin (OPTN) and myocilin (MYOC) sequence variants in a cohort of German patients with normal tension glaucoma...
  8. ncbi Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany
    BMC Genet 11:8. 2010
    ....
  9. ncbi Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Eberhard Karls University, Tuebingen, Germany
    J Glaucoma 19:136-41. 2010
    ..To evaluate the association between lysyl-oxidase-like 1 (LOXL1) gene polymorphisms and exfoliation glaucoma, pigmentary glaucoma and normal tension glaucoma in a case-control cohort of German patients...
  10. ncbi Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    BMC Med Genet 10:91. 2009
    ..Instead, multigenic inheritance is proposed for the majority of cases. The present study tested common sequence variants in candidate genes for association with normal tension glaucoma in the German population...
  11. ncbi Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
    Nicole Weisschuh
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Mol Vis 18:174-80. 2012
    ..To identify the genetic defect in a four-generation Croatian family presenting with autosomal dominant cataract...