Annemarie Sommer

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. ncbi Craniofacial-deafness-hand syndrome revisited
    Annemarie Sommer
    Human and Molecular Genetics, Department of Pediatrics, The Ohio State University and Children s Hospital, Columbus, Ohio 43205 2696, USA
    Am J Med Genet A 123:91-4. 2003
  2. ncbi Trisomy 16p: a longitudinal profile and photo essay
    Annemarie Sommer
    The Ohio State University and Children s Hospital, Columbus, Ohio 43205, USA
    Am J Med Genet A 140:174-9. 2006
  3. ncbi Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 143:589-93. 2007
  4. ncbi Photo essay--Seckel syndrome
    Annemarie Sommer
    The Ohio State University College of Medicine and Children's Hospital, Molecular and Human Genetics, Columbus, OH 43205, USA
    Am J Med Genet C Semin Med Genet 145:230-1. 2007
  5. ncbi Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy
    Catherine E Cottrell
    Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Am J Med Genet A 149:408-14. 2009
  6. ncbi GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
    Colleen A Morris
    Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
    Am J Med Genet A 123:45-59. 2003
  7. ncbi Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005

Collaborators

Detail Information

Publications7

  1. ncbi Craniofacial-deafness-hand syndrome revisited
    Annemarie Sommer
    Human and Molecular Genetics, Department of Pediatrics, The Ohio State University and Children s Hospital, Columbus, Ohio 43205 2696, USA
    Am J Med Genet A 123:91-4. 2003
    ..We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation...
  2. ncbi Trisomy 16p: a longitudinal profile and photo essay
    Annemarie Sommer
    The Ohio State University and Children s Hospital, Columbus, Ohio 43205, USA
    Am J Med Genet A 140:174-9. 2006
    ..We report on a patient with partial trisomy 16p due to a maternally-inherited balanced translocation between chromosomes 2q and 16p and describe the change in phenotype over 21 years, as well as the level of development achieved...
  3. ncbi Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 143:589-93. 2007
    ..Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals...
  4. ncbi Photo essay--Seckel syndrome
    Annemarie Sommer
    The Ohio State University College of Medicine and Children's Hospital, Molecular and Human Genetics, Columbus, OH 43205, USA
    Am J Med Genet C Semin Med Genet 145:230-1. 2007
  5. ncbi Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy
    Catherine E Cottrell
    Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Am J Med Genet A 149:408-14. 2009
    ..As a result, the pattern of XCI is opposite that of the expected for an X;autosome translocation. Therefore, we suggest the phenotypic abnormalities found in the patient are a result of functional disomy in the Xq28 region...
  6. ncbi GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
    Colleen A Morris
    Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
    Am J Med Genet A 123:45-59. 2003
    ..Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS...
  7. ncbi Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...