Back to Search
DIANNE ABUELO, MD
MD
Pediatrics Physician
NPI: 1205889367Individual
Specialties, Licenses & Credentials
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
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
Are you this provider?
Claim Your Profile