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ISABELLA DEL CASTILLO, M.D.

M.D.

Student in an Organized Health Care Education/Training Program

NPI: 1649066564Individual

Specialties, Licenses & Credentials

Student in an Organized Health Care Education/Training ProgramPrimary

Student in an Organized Health Care Education/Training Program

Code: 390200000X

Research & Publications (20)

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
PMID 18985073·Eur J Hum Genet·2009
8-other
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.
PMID 19363479·Nat Genet·2009
8-other
Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.
PMID 19636622·J Assoc Res Otolaryngol·2009
8-other
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
PMID 19477959·Hum Mol Genet·2009
7-preclinical
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
PMID 18348274·Am J Med Genet A·2008
8-other
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
PMID 18381613·Hum Mutat·2008
4-observational
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
PMID 18177466·Clin Genet·2008
5-case
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
PMID 18952432·Neuromuscul Disord·2008
5-case
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.
PMID 18030493·Hum Genet·2008
7-preclinical
Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.
PMID 18028453·Clin Genet·2008
8-other

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

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Contact & Hours

Address
24 HOSPITAL AVENUE DANBURY HOSPITAL, DANBURY HOSPITAL
DANBURY, CT 06810

Quick Facts

NPI
1649066564
Entity Type
Individual
Gender
Female
Medicare
Not confirmed
Specialties
1
Locations
1
Publications
20

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