Monica C Varela

Summary

Country: Brazil

Publications

  1. ncbi request reprint Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects
    Monica Castro Varela
    Centro de Estudos do Genoma Humano, Department of Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    Eur J Hum Genet 12:987-92. 2004
  2. ncbi request reprint Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
    M C Varela
    Human Genome Study Center, Department of Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    Clin Genet 67:47-52. 2005
  3. ncbi request reprint A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity
    Monica C Varela
    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 49:298-305. 2006
  4. 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
  5. ncbi request reprint Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns
    Kette D Valente
    Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of Sao Paulo Medical School, R Jesuíno Arruda 901 Apt 51, 04532 082 São Paulo, SP, Brazil
    Epilepsy Res 67:163-8. 2005
  6. doi request reprint Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
    Leonardo P Capelli
    A C Camargo Cancer Hospital, Sao Paulo, Brazil
    Eur J Med Genet 55:132-4. 2012
  7. 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
  8. ncbi request reprint Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)
    Monica C Varela
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    Ann Genet 47:267-73. 2004
  9. doi request reprint A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome
    Ade Nubia Xavier Pacanaro
    Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 152:753-8. 2010

Collaborators

Detail Information

Publications9

  1. ncbi request reprint Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects
    Monica Castro Varela
    Centro de Estudos do Genoma Humano, Department of Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    Eur J Hum Genet 12:987-92. 2004
    ..As a consequence of their milder or less typical phenotype, AS may remain undiagnosed, leading to an overall underdiagnosis of the disease...
  2. ncbi request reprint Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
    M C Varela
    Human Genome Study Center, Department of Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    Clin Genet 67:47-52. 2005
    ....
  3. ncbi request reprint A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity
    Monica C Varela
    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 49:298-305. 2006
    ..2 in patients with and without PWS-like phenotype are needed to evaluate possible imprinting effects of SIM1 gene and establish the contribution that alterations in this gene makes to the etiology of syndromic and non-syndromic obesity...
  4. 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...
  5. ncbi request reprint Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns
    Kette D Valente
    Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of Sao Paulo Medical School, R Jesuíno Arruda 901 Apt 51, 04532 082 São Paulo, SP, Brazil
    Epilepsy Res 67:163-8. 2005
    ..We found that UPD patients do not completely fit the scenario delineated for AS, suggesting that patients determined by different mechanisms should be distinctly addressed, for a better understanding of this syndrome...
  6. doi request reprint Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
    Leonardo P Capelli
    A C Camargo Cancer Hospital, Sao Paulo, Brazil
    Eur J Med Genet 55:132-4. 2012
    ..Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features...
  7. 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...
  8. ncbi request reprint Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)
    Monica C Varela
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    Ann Genet 47:267-73. 2004
    ..The breakpoint was located in the subtelomeric region, very close to the telomere, a region that has been described as having the lowest gene concentrations in the human genome...
  9. doi request reprint A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome
    Ade Nubia Xavier Pacanaro
    Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 152:753-8. 2010
    ..It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum...