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ELI SPRECHER, M.D.
M.D.
Pediatrics Physician
NPI: 1134418031Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
258051(MA)
Research & Publications (20)
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease.
PMID 17531178·Curr Rheumatol Rep·2007
6-review
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease.
PMID 17300252·Br J Dermatol·2007
5-case
Genetic factors in the pathogenesis of UV-induced skin cancer1.
PMID 17641488·Curr Probl Dermatol·2007
6-review
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
PMID 16528452·J Hum Genet·2006
5-case
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
PMID 15968592·Am J Hum Genet·2005
8-other
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
PMID 15347338·Clin Exp Dermatol·2004
5-case
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.
PMID 15086548·J Invest Dermatol·2004
8-other
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
PMID 12648226·J Invest Dermatol·2003
8-other
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
PMID 12230514·J Invest Dermatol·2002
8-other
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
PMID 11511292·J Invest Dermatol·2001
8-other
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
PMID 11544476·Nat Genet·2001
8-other
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.
PMID 11286616·J Invest Dermatol·2001
8-other
Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.
PMID 10827399·J Am Acad Dermatol·2000
8-other
Pretreatment with aspirin and etiology of first-ever ischemic stroke in young and middle-aged patients.
PMID 19351569·J Neurol Sci·2009
8-other
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
PMID 19631308·Am J Hum Genet·2009
8-other
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
PMID 19297793·Acta Orthop·2009
8-other
A systematic review of US state environmental legislation and regulation with regards to the prevention of neurodevelopmental disabilities and asthma.
PMID 19323818·Environ Health·2009
1-meta
Distribution of TPMT risk alleles for thiopurine [correction of thioupurine] toxicity in the Israeli population.
PMID 19048244·Eur J Clin Pharmacol·2009
8-other
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
PMID 18820939·Arch Dermatol Res·2009
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
- 300 LONGWOOD AVE
BOSTON, MA 02115 - Phone
- (617) 355-7701
Quick Facts
- NPI
- 1134418031
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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