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DIANNE ABUELO, MD
MD
Pediatrics Physician
NPI: 1205889367Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
05091(RI)
Research & Publications (19)
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
PMID 14722918·Hum Mutat·2004
4-observational
Genetic evaluation and counseling for craniofacial anomalies.
PMID 12593356·Med Health R I·2002
6-review
Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.
PMID 11050625·Am J Med Genet·2000
5-case
Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.
PMID 19441125·Am J Med Genet A·2009
5-case
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
PMID 19321599·Hum Mol Genet·2009
8-other
A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
PMID 18379569·J Perinatol·2008
5-case
Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.
PMID 17676371·Pediatr Cardiol·2008
5-case
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
PMID 17994018·Nat Genet·2007
8-other
Major congenital anomalies place extremely low birth weight infants at higher risk for poor growth and developmental outcomes.
PMID 17984212·Pediatrics·2007
4-observational
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
PMID 17088400·Pediatrics·2006
8-other
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
PMID 15448106·Diabetes·2004
8-other
Adolescents and genetic testing: what do they think about it?
PMID 14642711·J Adolesc Health·2003
8-other
Point of view: Marfan syndrome: be aware of life-threatening complications.
PMID 11881173·Med Health R I·2002
8-other
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.
PMID 11369686·Circulation·2001
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 593 EDDY ST, POB 234
PROVIDENCE, RI 02903 - Phone
- (401) 444-8361
Quick Facts
- NPI
- 1205889367
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 19
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