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BENJAMIN EMANUEL, M.D.
M.D.
Anatomic Pathology & Clinical Pathology Physician
NPI: 1245202985Individual
Specialties, Licenses & Credentials
Anatomic Pathology & Clinical Pathology PhysicianPrimary
Pathology — Anatomic Pathology & Clinical Pathology
Code: 207ZP0102X
13555(SC)
Research & Publications (20)
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.
PMID 17943194·Nat Rev Genet·2007
6-review
Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.
PMID 18483006·Cereb Cortex·2009
8-other
Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.
PMID 18769474·Neuropsychopharmacology·2009
8-other
Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.
PMID 18997000·Genome Res·2009
8-other
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.
PMID 19520744·Hum Mol Genet·2009
8-other
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.
PMID 18770859·Birth Defects Res A Clin Mol Teratol·2009
8-other
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
PMID 19606488·Am J Med Genet A·2009
8-other
Interrupted aortic arch type B in A patient with cat eye syndrome.
PMID 19629279·Arq Bras Cardiol·2009
5-case
Two different forms of palindrome resolution in the human genome: deletion or translocation.
PMID 18184694·Hum Mol Genet·2008
8-other
Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.
PMID 18203177·Am J Med Genet A·2008
5-case
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.
PMID 18636632·Dev Disabil Res Rev·2008
6-review
Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.
PMID 17964762·Schizophr Res·2008
4-observational
Introduction: advances in research on velo-cardio-facial syndrome/22q11.2 deletion syndrome.
PMID 18636630·Dev Disabil Res Rev·2008
8-other
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
PMID 17351135·Genome Res·2007
8-other
Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm.
PMID 17448469·Fertil Steril·2007
4-observational
Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.
PMID 17551006·Proc Natl Acad Sci U S A·2007
4-observational
Deletion 22q11.2: report of a complex meiotic mechanism of origin.
PMID 17603802·Am J Med Genet A·2007
5-case
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.
PMID 17676598·Am J Med Genet A·2007
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
- 404 E CALHOUN ST
ANDERSON, SC 29621 - Phone
- (800) 779-4858
Quick Facts
- NPI
- 1245202985
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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