Margaret P Adam

Summary

Affiliation: Emory University
Country: USA

Publications

  1. ncbi request reprint Mowat-Wilson syndrome with craniosynostosis: a case report
    Margaret P Adam
    Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 146:245-6. 2008
  2. doi request reprint Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
    Margaret P Adam
    Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30030, USA
    Am J Med Genet A 146:543-7. 2008
  3. doi request reprint Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay
    Margaret P Adam
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    J Pediatr 154:143-6. 2009
  4. doi request reprint Preaxial hallucal polydactyly as a marker for diabetic embryopathy
    Margaret P Adam
    Emory University School of Medicine, Atlanta, Georgia 30033, USA
    Birth Defects Res A Clin Mol Teratol 85:13-9. 2009
  5. ncbi request reprint Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?
    Margaret P Adam
    Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA
    Birth Defects Res A Clin Mol Teratol 79:242-8. 2007
  6. ncbi request reprint Clinical features and management issues in Mowat-Wilson syndrome
    Margaret P Adam
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 140:2730-41. 2006
  7. ncbi request reprint Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature
    Margaret P Adam
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Prenat Diagn 25:1088-96. 2005
  8. ncbi request reprint Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities
    Margaret P Adam
    Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA
    Am J Med Genet A 137:117-24. 2005
  9. doi request reprint Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome
    Joseph F Cubells
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 155:805-10. 2011
  10. doi request reprint Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge
    Aravindhan Veerapandiyan
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 155:2186-95. 2011

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Mowat-Wilson syndrome with craniosynostosis: a case report
    Margaret P Adam
    Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 146:245-6. 2008
  2. doi request reprint Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
    Margaret P Adam
    Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30030, USA
    Am J Med Genet A 146:543-7. 2008
    ..However, the bone began to regrow in a symmetric fashion within 3 months of removal. This patient's phenotype is at variance with any known overgrowth syndrome...
  3. doi request reprint Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay
    Margaret P Adam
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    J Pediatr 154:143-6. 2009
    ....
  4. doi request reprint Preaxial hallucal polydactyly as a marker for diabetic embryopathy
    Margaret P Adam
    Emory University School of Medicine, Atlanta, Georgia 30033, USA
    Birth Defects Res A Clin Mol Teratol 85:13-9. 2009
    ..In the 1990s it was proposed that preaxial hallucal polydactyly, particularly when proximally placed, was a distinguishing feature of diabetic embryopathy...
  5. ncbi request reprint Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?
    Margaret P Adam
    Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA
    Birth Defects Res A Clin Mol Teratol 79:242-8. 2007
    ..We present the combination of these findings in two unrelated patients...
  6. ncbi request reprint Clinical features and management issues in Mowat-Wilson syndrome
    Margaret P Adam
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 140:2730-41. 2006
    ..MWS should be considered in any individual with severely impaired or absent speech, especially in the presence of seizures and anomalies involving the pulmonary arteries (particularly pulmonary artery sling) or pulmonary valves...
  7. ncbi request reprint Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature
    Margaret P Adam
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Prenat Diagn 25:1088-96. 2005
    ..Instead, they produce an anomalous hemoglobin, hemoglobin Bart's, with an unusually high affinity for oxygen, leading to profound anemia and tissue hypoxia...
  8. ncbi request reprint Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities
    Margaret P Adam
    Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA
    Am J Med Genet A 137:117-24. 2005
    ..In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed...
  9. doi request reprint Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome
    Joseph F Cubells
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 155:805-10. 2011
    ..3DS-associated rage outbursts...
  10. doi request reprint Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge
    Aravindhan Veerapandiyan
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 155:2186-95. 2011
    ..Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals...
  11. ncbi request reprint Genotype/phenotype correlations in two patients with 12q subtelomere deletions
    Dmitriy M Niyazov
    Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033 5207, USA
    Am J Med Genet A 143:2700-5. 2007
    ..In addition, 12q subtelomeric deletions should be considered in the differential diagnosis of patients presenting with food-seeking behavior and resultant obesity, as well as those referred to rule out Prader-Willi syndrome...
  12. pmc Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
    Daniel Moreno-De-Luca
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 87:618-30. 2010
    ..In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only...
  13. pmc Segmental duplications mediate novel, clinically relevant chromosome rearrangements
    M Katharine Rudd
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Hum Mol Genet 18:2957-62. 2009
    ..Here, we discuss the genetic factors that can modify the phenotypic expression of such gains and losses, which likely play a role in these and other recurrent genomic disorders...
  14. ncbi request reprint Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion
    Margaret P Adam
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 123:72-8. 2003
    ....
  15. doi request reprint Ambiguous genitalia: what prenatal genetic testing is practical?
    Margaret P Adam
    Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    Am J Med Genet A 158:1337-43. 2012
    ..However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield...