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ANTONY SHRIMPTON, PH.D.
PH.D.
Clinical Molecular Genetics Physician
NPI: 1205815990Individual
Specialties, Licenses & Credentials
Clinical Molecular Genetics PhysicianPrimary
Medical Genetics — Clinical Molecular Genetics
Code: 207SG0203X
93270(NY)
Research & Publications (20)
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
PMID 19390221·Nephron Physiol·2009
4-observational
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
PMID 17645236·Neuropathology·2007
5-case
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.
PMID 15521982·Clin Genet·2004
5-case
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
PMID 15146389·Am J Hum Genet·2004
8-other
R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion.
PMID 11070158·Mol Diagn·2000
8-other
Olecranon bursitis secondary to Mycobacterium kansasii infection in a patient receiving infliximab for Behcet's disease.
PMID 19208889·J Med Microbiol·2009
5-case
CD8+ cutaneous T-cell lymphoma successfully treated with bexarotene: a case report and review of the literature.
PMID 18615708·Am J Hematol·2008
5-case
Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation.
PMID 18303411·Diagn Mol Pathol·2008
8-other
Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay.
PMID 18203205·Am J Med Genet A·2008
8-other
A 33-year-old man with multiple ring-enhancing lesions in the brain.
PMID 16521486·Neuropathology·2006
5-case
Vaccination with polysaccharide-conjugate-vaccines in adult patients with specific antibody deficiency.
PMID 16507328·Vaccine·2006
8-other
Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.
PMID 16411192·Am J Med Genet A·2006
5-case
Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays.
PMID 16331669·Am J Med Genet B Neuropsychiatr Genet·2006
8-other
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
PMID 16244288·Clin Chem·2005
8-other
Genetically characterized positive control cell lines derived from residual clinical blood samples.
PMID 16166172·Clin Chem·2005
4-observational
Transformation of follicular lymphoma to Burkitt-like lymphoma within a single lymph node.
PMID 15948125·Hum Pathol·2005
5-case
Familial hyper- and hypopigmentation with age-related pattern change.
PMID 15551335·Am J Med Genet A·2005
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
- 750 E ADAMS ST, CLINICAL PATHOLOGY
SYRACUSE, NY 13210 - Phone
- (315) 464-6807
Quick Facts
- NPI
- 1205815990
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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