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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
A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.
PMID 17503326·Am J Hum Genet·2007
7-preclinical
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
PMID 17309062·Am J Med Genet A·2007
5-case
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
PMID 16826519·Am J Hum Genet·2006
8-other
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.
PMID 17085680·J Med Genet·2006
8-other
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
PMID 16411215·Am J Med Genet A·2006
5-case
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
PMID 15994881·J Med Genet·2005
4-observational
Dynamic regulation of Na(+)-K(+)-2Cl(-) cotransporter surface expression by PKC-{epsilon} in Cl(-)--secretory epithelia.
PMID 16000638·Am J Physiol Cell Physiol·2005
8-other
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
PMID 16088916·Am J Med Genet A·2005
8-other
GJB2 mutations and degree of hearing loss: a multicenter study.
PMID 16380907·Am J Hum Genet·2005
4-observational
[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].
PMID 16425640·Acta Otorrinolaringol Esp·2005
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
- 24 HOSPITAL AVENUE DANBURY HOSPITAL, DANBURY HOSPITAL
DANBURY, CT 06810 - Phone
- (203) 739-8105
Quick Facts
- NPI
- 1649066564
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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