S M Sauter

Summary

Country: Germany

Publications

  1. ncbi Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
    S Sauter
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Hum Mutat 20:127-32. 2002
  2. ncbi Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]
    S Sauter
    Institute of Human Genetics, University of Gottingen, Germany
    Am J Med Genet A 120:533-6. 2003
  3. ncbi Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
    S M Sauter
    Institute of Human Genetics, University of Gottingen, Germany
    Hum Mutat 23:98. 2004
  4. ncbi Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay
    S M Sauter
    Institut fur Humangenetik, Georg August Universitat Gottingen, Heinrich Düker Weg 12, Gottingen, Germany
    Am J Med Genet A 143:1091-9. 2007
  5. ncbi Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay
    G von Beust
    Institute of Human Genetics, University of Goettingen, Germany
    Am J Med Genet A 137:59-64. 2005
  6. ncbi Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia
    D V K Pantakani
    Institute of Human Genetics, University of Goettingen, Goettingen, Germany
    Clin Genet 73:268-72. 2008

Collaborators

Detail Information

Publications6

  1. ncbi Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
    S Sauter
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Hum Mutat 20:127-32. 2002
    ..Frameshift mutations account for the majority of SPG4 mutations in this population. The proportion of splice mutations is considerably lower than reported elsewhere...
  2. ncbi Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]
    S Sauter
    Institute of Human Genetics, University of Gottingen, Germany
    Am J Med Genet A 120:533-6. 2003
    ..To the best of our knowledge, this is the first report on a patient with autistic behavior with terminal 20p deletion mosaicism reported up to present...
  3. ncbi Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
    S M Sauter
    Institute of Human Genetics, University of Gottingen, Germany
    Hum Mutat 23:98. 2004
    ..481G>C (p.A161P) and c.740A>C (p.H247P). One of the novel mutations was found both in a family with early onset of symptoms and in a late onset family. Furthermore, we report on numerous polymorphisms detected in the SPG3A gene...
  4. ncbi Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay
    S M Sauter
    Institut fur Humangenetik, Georg August Universitat Gottingen, Heinrich Düker Weg 12, Gottingen, Germany
    Am J Med Genet A 143:1091-9. 2007
    ..The detected chromosomal aberration probably occurred de novo. The clinical features are very likely to be caused solely by the partial trisomy 19q...
  5. ncbi Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay
    G von Beust
    Institute of Human Genetics, University of Goettingen, Germany
    Am J Med Genet A 137:59-64. 2005
    ..This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results...
  6. ncbi Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia
    D V K Pantakani
    Institute of Human Genetics, University of Goettingen, Goettingen, Germany
    Clin Genet 73:268-72. 2008
    ..Collectively, our results suggest that S44L in association with c.1687G>A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest HSP...