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ALAN SHANSKE, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1528146784Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
109457(NY)
Research & Publications (20)
Sacral appendage in a child with an FGFR2 mutation: a report and review.
PMID 18629881·Am J Med Genet A·2008
5-case
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
PMID 19012352·Am J Med Genet A·2008
5-case
Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature.
PMID 17671048·Pediatrics·2007
5-case
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
PMID 17028440·Horm Res·2007
5-case
Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.
PMID 15368480·Am J Med Genet A·2004
5-case
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS.
PMID 12962293·Birth Defects Res A Clin Mol Teratol·2003
5-case
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.
PMID 11484199·Am J Med Genet·2001
5-case
Genetic evaluation of American minority pediatric cochlear implant recipients.
PMID 19081147·Int J Pediatr Otorhinolaryngol·2009
8-other
Coordinated molecular control of otic capsule differentiation: functional role of Wnt5a signaling and opposition by sfrp3 activity.
PMID 18991062·Growth Factors·2008
7-preclinical
Retinoic acid-induced inner ear teratogenesis caused by defective Fgf3/Fgf10-dependent Dlx5 signaling.
PMID 18412219·Birth Defects Res B Dev Reprod Toxicol·2008
7-preclinical
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
PMID 18000976·Am J Med Genet A·2007
8-other
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PMID 17530927·PLoS Genet·2007
7-preclinical
Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome.
PMID 17506095·Am J Med Genet A·2007
5-case
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
PMID 17357124·Am J Med Genet A·2007
8-other
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
PMID 17204049·Clin Genet·2007
5-case
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.
PMID 17000704·Hum Mol Genet·2006
7-preclinical
A syndrome of holoprosencephaly, recurrent infections, and monocytosis.
PMID 17103456·Am J Med Genet A·2006
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
- CHAM, 3415 BAINBRIDGE AVENUE
BRONX, NY 10467 - Phone
- (718) 741-2450
Quick Facts
- NPI
- 1528146784
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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