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CYNTHIA TIFFT, MD

MD

Clinical Genetics (M.D.) Physician

NPI: 1467530709Individual

Specialties, Licenses & Credentials

Clinical Genetics (M.D.) PhysicianPrimary

Medical Genetics — Clinical Genetics (M.D.)

Code: 207SG0201X

MD19378(DC)

Research & Publications (20)

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
PMID 19447653·Mol Genet Metab·2009
3-trial
Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia.
PMID 19282754·Clin Dysmorphol·2009
5-case
Simultaneous quantification of GM1 and GM2 gangliosides by isotope dilution tandem mass spectrometry.
PMID 18241673·Clin Biochem·2008
8-other
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
PMID 17277775·Nat Genet·2007
5-case
Pompe disease diagnosis and management guideline.
PMID 16702877·Genet Med·2006
6-review
Quantitative dysmorphology assessment in Fabry disease.
PMID 16481892·Genet Med·2006
8-other
Global gene expression in a type 2 Gaucher disease brain.
PMID 15589115·Mol Genet Metab·2004
4-observational
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
PMID 15004558·Nat Genet·2004
7-preclinical
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.
PMID 14735585·Am J Med Genet A·2004
5-case
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
PMID 12205104·J Med Genet·2002
6-review
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
PMID 12116202·Am J Med Genet·2002
5-case
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.
PMID 12019216·Hum Mol Genet·2002
8-other
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
PMID 11702212·Hum Genet·2001
8-other
Fetal alcohol syndrome.
PMID 11157101·Pediatr Rev·2001
6-review
Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.
PMID 11133779·Blood·2001
7-preclinical
Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.
PMID 10672323·Acta Neuropathol·2000
7-preclinical
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome.
PMID 11102933·Am J Med Genet·2000
5-case
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.
PMID 11005868·Proc Natl Acad Sci U S A·2000
7-preclinical
Joint National Committee VI: individualized versus indiscriminate therapy for hypertension.
PMID 10981156·Curr Hypertens Rep·2000
8-other
Coronary heart disease; hypertension.
PMID 10977444·Am J Manag Care·2000
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
111 MICHIGAN AVE NW
WASHINGTON, DC 20010

Location

Practice Location

111 MICHIGAN AVE NW, WASHINGTON, DC
(202) 884-2187

Quick Facts

NPI
1467530709
Entity Type
Individual
Gender
Female
Medicare
Not confirmed
Specialties
1
Locations
1
Publications
20

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