Michael Marble

Summary

Affiliation: Louisiana State University Health Sciences Center
Country: USA

Publications

  1. doi request reprint Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up
    Michael Marble
    Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA
    J Pediatr Gastroenterol Nutr 46:453-6. 2008
  2. doi request reprint Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening
    Michael Marble
    Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children s Hospital of New Orleans, New Orleans, LA, USA
    J Pediatr 152:731-3. 2008
  3. ncbi request reprint Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation
    Fern Tsien
    Louisiana State University Health Sciences Center, Department of Genetics, New Orleans, LA 70112, USA
    Clin Dysmorphol 14:177-81. 2005
  4. ncbi request reprint Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations
    Michael Marble
    Division of Clinical Genetics, Department of Pediatrics, Children s Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA
    Am J Med Genet A 143:1442-7. 2007
  5. doi request reprint Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency
    Robin R McGoey
    Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA
    J Pediatr 158:1031-2. 2011
  6. ncbi request reprint Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance
    Michael Marble
    Human Genetics Program, Hayward Genetics Center and Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA
    Am J Med Genet 108:327-32. 2002
  7. ncbi request reprint Scoliosis in velo-cardio-facial syndrome
    Eva Morava
    Children s Hospital, New Orleans, Louisiana 70118, USA
    J Pediatr Orthop 22:780-3. 2002
  8. pmc Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development
    Zsolt Urban
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 85:593-605. 2009

Collaborators

Detail Information

Publications8

  1. doi request reprint Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up
    Michael Marble
    Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA
    J Pediatr Gastroenterol Nutr 46:453-6. 2008
  2. doi request reprint Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening
    Michael Marble
    Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children s Hospital of New Orleans, New Orleans, LA, USA
    J Pediatr 152:731-3. 2008
    ..The mother was also vitamin B(12)-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B(12) deficiency, allowing prompt treatment and prevention of potential sequelae...
  3. ncbi request reprint Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation
    Fern Tsien
    Louisiana State University Health Sciences Center, Department of Genetics, New Orleans, LA 70112, USA
    Clin Dysmorphol 14:177-81. 2005
    ..The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility...
  4. ncbi request reprint Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations
    Michael Marble
    Division of Clinical Genetics, Department of Pediatrics, Children s Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA
    Am J Med Genet A 143:1442-7. 2007
    ..The presence of neurological and cognitive deterioration in the three carriers deviates from the usual expectation that carrier expression only occurs in families when males are mildly affected...
  5. doi request reprint Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency
    Robin R McGoey
    Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA
    J Pediatr 158:1031-2. 2011
    ..However, his symptom-free mother was subsequently diagnosed with VLCADD. This documents maternal VLCADD causing a positive newborn screening result in an offspring...
  6. ncbi request reprint Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance
    Michael Marble
    Human Genetics Program, Hayward Genetics Center and Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA
    Am J Med Genet 108:327-32. 2002
    ..A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome...
  7. ncbi request reprint Scoliosis in velo-cardio-facial syndrome
    Eva Morava
    Children s Hospital, New Orleans, Louisiana 70118, USA
    J Pediatr Orthop 22:780-3. 2002
    ..2 deletion, and they should be monitored for this problem. In addition, 22q11.2 deletion should be among the diagnostic considerations in patients with unexplained scoliosis and developmental delay...
  8. pmc Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development
    Zsolt Urban
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 85:593-605. 2009
    ..Our results show that coupling of TGF-beta signaling and ECM assembly is essential for proper development and is achieved in multiple human organ systems by multifunctional proteins such as LTBP4...