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American Journal of Medical Genetics. Part A|September 19, 2009
Complex contributions of Ets2 to craniofacial and thymus phenotypes of trisomic "Down syndrome" miceCheryl A Hill, Thomas E Sussan, Roger H Reeves, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locusBeyhan Tüysüz, Anna Collin, Müjde Arapoğlu, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome lossCarl Dobkin, Gabriel Radu, Xiao-Hua Ding, et al.American Journal of Medical Genetics. Part A|October 30, 2008
Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)Marzena Gajecka, Reem Saadeh, Katherine L Mackay, et al.American Journal of Medical Genetics. Part A|July 22, 2008
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutationAlejandro García-Vargas, Christian Hafner, Adriana G Pérez-Rodríguez, et al.American Journal of Medical Genetics. Part A|August 14, 2008
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disordersJulie R Jones, Cindy Skinner, Michael J Friez, et al.American Journal of Medical Genetics. Part A|October 17, 2008
Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardationEmily Chen, Elise Obolensky, Katherine A Rauen, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactylyShin Hayashi, Nobuhiko Okamoto, Yoshio Makita, et al.American Journal of Medical Genetics. Part A|October 18, 2008
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDSTK M Panzer, R Lachman, P Modaff, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Comment on prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese populationBradley DuchainePageof 929