Carla S D'Angelo

Summary

Country: Brazil

Publications

  1. pmc Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches
    Carla Sustek D'Angelo
    Human Genome and Stem Cell Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, 277 Rua do Matao, Rooms 204 and 209, 05508 090 São Paulo, SP, Brazil
    J Obes 2012:845480. 2012
  2. doi request reprint 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
  3. ncbi request reprint Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
    Carla S D'Angelo
    Human Genome Study Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    Eur J Med Genet 49:451-60. 2006
  4. doi request reprint Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements
    Carla S D'Angelo
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, SP CEP, Brazil
    Hum Genet 125:551-63. 2009
  5. doi request reprint Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia
    Carla S D'Angelo
    Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 152:102-10. 2010

Detail Information

Publications5

  1. pmc Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches
    Carla Sustek D'Angelo
    Human Genome and Stem Cell Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, 277 Rua do Matao, Rooms 204 and 209, 05508 090 São Paulo, SP, Brazil
    J Obes 2012:845480. 2012
    ....
  2. doi request reprint 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...
  3. ncbi request reprint Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
    Carla S D'Angelo
    Human Genome Study Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    Eur J Med Genet 49:451-60. 2006
    ..Therefore, chromosome 1p36.33 deletion should be investigated in patients with hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who test negative for PWS...
  4. doi request reprint Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements
    Carla S D'Angelo
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, SP CEP, Brazil
    Hum Genet 125:551-63. 2009
    ..Segmental duplications can serve as substrates for ectopic homologous recombination or stimulate genomic rearrangements...
  5. doi request reprint Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia
    Carla S D'Angelo
    Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 152:102-10. 2010
    ..Multiplex ligation probe amplification using the monosomy 1p36 syndrome-specific kit coupled to the subtelomeric kit is an effective approach to identify and delineate rearrangements at 1p36...