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SOPHIA LALANI, DMD, B.ENG
DMD, B.ENG
Dentist
NPI: 1700119260Individual
Specialties, Licenses & Credentials
DentistPrimary
Dentist
Code: 122300000X
DN1855262(MA)
Research & Publications (20)
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
PMID 18812404·J Med Genet·2009
7-preclinical
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
PMID 16472378·BMC Med Genet·2006
5-case
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
PMID 16400610·Am J Hum Genet·2006
7-preclinical
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
PMID 15710863·Arch Neurol·2005
8-other
SNP genotyping to screen for a common deletion in CHARGE syndrome.
PMID 15710038·BMC Med Genet·2005
8-other
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
PMID 12673657·Am J Med Genet A·2003
8-other
Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies.
PMID 19215052·Am J Med Genet A·2009
5-case
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
PMID 19052029·J Med Genet·2009
8-other
The extracellular matrix protein mindin regulates trafficking of murine eosinophils into the airspace.
PMID 18818374·J Leukoc Biol·2009
7-preclinical
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
PMID 19578123·Hum Mol Genet·2009
8-other
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
PMID 19471977·Neurogenetics·2009
5-case
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
PMID 19279158·Hum Mol Genet·2009
7-preclinical
PD-1/PD-L blockade prevents anergy induction and enhances the anti-tumor activities of glycolipid-activated invariant NKT cells.
PMID 19234176·J Immunol·2009
7-preclinical
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
PMID 18663743·Am J Med Genet A·2008
8-other
Glycolipid ligands of invariant natural killer T cells as vaccine adjuvants.
PMID 19053208·Expert Rev Vaccines·2008
6-review
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
PMID 19047251·Pediatrics·2008
4-observational
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
PMID 19029900·Nat Genet·2008
8-other
Thymus leukemia antigen controls intraepithelial lymphocyte function and inflammatory bowel disease.
PMID 19004778·Proc Natl Acad Sci U S A·2008
7-preclinical
Impact of bacteria on the phenotype, functions, and therapeutic activities of invariant NKT cells in mice.
PMID 18451996·J Clin Invest·2008
7-preclinical
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
PMID 18179902·Am J Hum Genet·2008
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
- 100 E NEWTON ST, G202
BOSTON, MA 02118 - Phone
- (857) 891-1606
Quick Facts
- NPI
- 1700119260
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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