Carol L Clericuzio
Affiliation: University of New Mexico
- Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasiaCarol L Clericuzio
Department of Pediatrics, University of New Mexico Health Sciences Center, 1 University of New Mexico, Albuquerque, NM 87131 0001, USA
Genet Med 11:220-2. 2009..For this reason, molecular diagnostics are not helpful in identifying the subset of isolated hemihyperplasia patients with tumor risk and all isolated hemihyperplasia patients should undergo tumor screening...
- Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalitiesMargaret 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...
- Deaths due to choking in Prader-Willi syndromeDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 143:484-7. 2007....
- Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathwayDorothy K Grange
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Am J Med Genet A 146:2589-97. 2008....
- Acute lymphoblastic leukemia in a patient with Miller-Dieker syndromeDavid R Czuchlewski
Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA
J Pediatr Hematol Oncol 30:865-8. 2008..Herein we review the literature regarding Miller-Dieker syndrome, with particular attention to the presence of several candidate tumor suppressor genes within the deleted material...
- Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasiaCarol L Clericuzio
Department of Pediatrics, University of New Mexico, ACC 3, Albuquerque, NM 87131, USA
J Pediatr 143:270-2. 2003..We describe five children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia for whom serial serum alpha-fetoprotein screening, usually in combination with abdominal ultrasound, led to early detection of hepatoblastoma...
- Unexpected death and critical illness in Prader-Willi syndrome: report of ten individualsDavid A Stevenson
Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, USA
Am J Med Genet A 124:158-64. 2004..Since a number of children died while hospitalized, particularly close observation of PWS children who are ill enough to warrant hospital admission is recommended...