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SARAH ELSEA, PH.D.
PH.D.
Clinical Biochemical Genetics Physician
NPI: 1144330275Individual
Specialties, Licenses & Credentials
Clinical Biochemical Genetics PhysicianPrimary
Medical Genetics — Clinical Biochemical Genetics
Code: 207SG0202X
99041(VA)99041(TX)
Research & Publications (20)
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.
PMID 19319603·Mamm Genome·2009
7-preclinical
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
PMID 18343975·Mamm Genome·2008
7-preclinical
How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
PMID 18285828·Eur J Hum Genet·2008
7-preclinical
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
PMID 17334992·Am J Med Genet A·2008
5-case
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
PMID 18373405·Genet Test·2008
4-observational
17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
PMID 17594399·Clin Genet·2007
5-case
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
PMID 17539903·Clin Genet·2007
1-meta
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
PMID 17431895·Am J Med Genet A·2007
5-case
New developments in Smith-Magenis syndrome (del 17p11.2).
PMID 17351481·Curr Opin Neurol·2007
6-review
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
PMID 17041942·Am J Med Genet A·2006
5-case
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
PMID 16845274·Genet Med·2006
4-observational
Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population.
PMID 16113534·Community Genet·2005
8-other
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
PMID 15788730·J Med Genet·2005
7-preclinical
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.
PMID 15690371·Am J Med Genet A·2005
5-case
From Sudan to Omaha: how one community is helping African refugees find a new home.
PMID 15243261·Am J Nurs·2004
6-review
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
PMID 12809645·Mol Genet Metab·2003
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
- 1 BAYLOR PLZ # BCM225
HOUSTON, TX 77030 - Phone
- (713) 798-5484
Quick Facts
- NPI
- 1144330275
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 20
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