- Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation
Debora Romeo Bertola
Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, 05403 900 Sao Paulo, Brazil
Am J Med Genet A 130:378-83. 2004
..Atypical cases of NS should be screened for mutations in the PTPN11 gene and in the case of a positive result, first-degree relatives should also be tested for the specific mutation...
- Dental evaluation of Kabuki syndrome patients
Camila Santos Teixeira
Genetics Unit, Instituto da Criança, University of Sao Paulo, 05403 900 São Paulo SP, Brazil
Cleft Palate Craniofac J 46:668-73. 2009
..Dental findings may be helpful for clinical diagnosis, or they may be an additional finding to substantiate the diagnosis of Kabuki syndrome in children with mild phenotype...
- Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Ana Cristina Victorino Krepischi
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
Epilepsia 51:2457-60. 2010
..This second region comprises about 3 Mb and contains the candidate gene SLC4A10, providing further support for the potential role of this gene in epilepsy...
- Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
José Roberto Mendes Pegler
Universidade de Sao Paulo, Universidade de Sao Paulo, Faculdade de Medicina, Hospital das Clinicas, Sao Paulo SP, Brazil, MD Pediatric Resident Physician, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo ICr HC FMUSP, Sao Paulo, SP, Brazil
Rev Assoc Med Bras (1992) 62:202-6. 2016
..To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil...
- Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
Debora Romeo Bertola
Department of Pediatrics, Instituto da Criança, HC, University of Sao Paulo, Av Dr Eneas Carvalho de Aguiar, 647, Cerqueira Cesar, 05403 900, Sao Paulo, SP, Brazil
J Hum Genet 52:521-6. 2007
..This description emphasizes that a subset of patients with Costello syndrome could harbor mutations in other genes involved in the RAS-MAPK signaling...
- Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants
Carla Sustek D'Angelo
Human Genome and Stem Cell Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
Am J Med Genet A 161:479-86. 2013
..Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions...