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MACKENZIE PIERPONT, MD
MD
Student in an Organized Health Care Education/Training Program
NPI: 1295429736Individual
Specialties, Licenses & Credentials
Student in an Organized Health Care Education/Training ProgramPrimary
Student in an Organized Health Care Education/Training Program
Code: 390200000X
Research & Publications (19)
Genotype differences in cognitive functioning in Noonan syndrome.
PMID 19077116·Genes Brain Behav·2009
8-other
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
PMID 18580689·Genet Med·2008
6-review
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
PMID 17721977·Hum Mutat·2008
8-other
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
PMID 17519398·Circulation·2007
6-review
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
PMID 17351135·Genome Res·2007
8-other
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
PMID 17160901·Am J Hum Genet·2007
8-other
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
PMID 16183809·Pediatr Res·2005
4-observational
Classification of cardiovascular malformations associated with neuroblastoma.
PMID 15756248·J Pediatr·2005
8-other
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
PMID 12844284·Am J Hum Genet·2003
8-other
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.
PMID 11505339·Am J Hum Genet·2001
7-preclinical
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
PMID 11281458·Hum Genet·2001
7-preclinical
Heart development and the genetic aspects of cardiovascular malformations.
PMID 11376434·Am J Med Genet·2000
7-preclinical
Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children.
PMID 10650322·Am Heart J·2000
5-case
The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations.
PMID 11145757·J Card Fail·2000
8-other
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children.
PMID 11032337·J Inherit Metab Dis·2000
8-other
Metabolic aspects of myocardial disease and a role for L-carnitine in the treatment of childhood cardiomyopathy.
PMID 10835067·Pediatrics·2000
4-observational
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
PMID 10802654·Nat Genet·2000
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
Via practice · 2 locations total
- Address
- 51 PENNSYLVANIA ST
ORLANDO, FL 32806 - Phone
- (321) 843-3220
Quick Facts
- NPI
- 1295429736
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 2
- Publications
- 19
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