Maria Descartes

Summary

Affiliation: University of Alabama at Birmingham
Country: USA

Publications

  1. ncbi request reprint Oculoauriculovertebral spectrum with 5p15.33-pter deletion
    Maria Descartes
    Department of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35294 0024, USA
    Clin Dysmorphol 15:153-4. 2006
  2. doi request reprint Distal 22q11.2 microduplication encompassing the BCR gene
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:3075-81. 2008
  3. doi request reprint Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:2126-9. 2008
  4. doi request reprint Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Am J Med Genet A 146:2937-43. 2008
  5. ncbi request reprint A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 143:2178-84. 2007
  6. doi request reprint Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Pediatr Neurol 45:274-8. 2011

Detail Information

Publications6

  1. ncbi request reprint Oculoauriculovertebral spectrum with 5p15.33-pter deletion
    Maria Descartes
    Department of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35294 0024, USA
    Clin Dysmorphol 15:153-4. 2006
    ..A report of the sixth case with the oculoauriculovertebral phenotype with limb anomalies and 5p terminal deletion is described...
  2. doi request reprint Distal 22q11.2 microduplication encompassing the BCR gene
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:3075-81. 2008
    ..2 can mediate both deletions and duplications in this genomic region. Both deletions and duplication of this region present with subtle clinical features including mild to moderate mental retardation, DD, and mild dysmorphic features...
  3. doi request reprint Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:2126-9. 2008
    ..Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS...
  4. doi request reprint Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Am J Med Genet A 146:2937-43. 2008
    ..We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region...
  5. ncbi request reprint A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 143:2178-84. 2007
    ..92 Mb in size and to span approximately 20 genes. This microdeletion region is flanked by LCR clusters containing several modules with a very high degree of sequence homology (>95%), and therefore could play a causal role in its origin...
  6. doi request reprint Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Pediatr Neurol 45:274-8. 2011
    ..Our patient, with a smaller deletion that the 2 previously reported cases, can help narrow the critical region for PNH in association with the 1p36 deletion. Several potential candidate genes are discussed...