Affiliation: The Ohio State University
- Craniofacial-deafness-hand syndrome revisitedAnnemarie 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...
- Trisomy 16p: a longitudinal profile and photo essayAnnemarie 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...
- Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephalyGail 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...
- Photo essay--Seckel syndromeAnnemarie 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
- Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomyCatherine 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...
- GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome regionColleen 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...
- Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea 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...