Lista de obras - Ignacio del Castillo - Dominio Público Uruguay

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.

artículo científico publicado en 2008

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

article

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

artículo científico publicado en 2002

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

artículo científico publicado en 2004

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

artículo científico publicado en 2008

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

artículo científico publicado en 2024

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss

artículo científico publicado en 2007

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

artículo científico publicado en 2010

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

artículo científico publicado en 2007

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

artículo científico publicado en 2003

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

artículo científico publicado en 1996

A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family ⬇️

artículo científico publicado el 13 de julio de 2011

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

article

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

artículo científico publicado en 2013

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene

artículo científico publicado en 2009

An unusual mechanism for resistance to the antibiotic coumermycin A1 ⬇️

artículo científico publicado el 1 de octubre de 1991

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations

artículo científico

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

artículo científico publicado en 2003

Characterization of the Chicken and Quail Homologues of the Human Gene Responsible for the X-Linked Kallmann Syndrome

article

Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome

artículo científico publicado en 1995

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

artículo científico publicado en 2019

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

artículo científico publicado en 2003

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

artículo científico publicado en 2011

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

artículo científico publicado en 2017

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

article

Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132

artículo científico publicado en 1999

Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci

artículo científico publicado en 1994

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

artículo científico publicado en 2021

GJB2 mutations and degree of hearing loss: a multicenter study

artículo científico publicado en 2005

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

artículo científico publicado en 2004

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

artículo científico publicado en 2009

Genetic etiology of non-syndromic hearing loss in Europe

scientific article published in 2022

Genetics of Hearing Impairment

artículo científico publicado en 2022

Genetics of deafness

artículo científico publicado en 2012

Genetics of isolated auditory neuropathies ⬇️

artículo científico publicado el 1 de enero de 2012

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss

artículo científico publicado en 2007

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

article

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

artículo científico publicado en 2010

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study

artículo científico publicado en 2013

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

artículo científico publicado en 2009

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

artículo científico publicado en 2020

Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome

artículo científico publicado en 1994

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

artículo científico publicado en 2018

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

artículo científico publicado en 2006

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

artículo científico publicado en 2009

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

artículo científico publicado en 2012

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

artículo científico publicado en 2011

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

artículo científico publicado en 2022

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

article

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

article

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

scientific article published on 28 August 2019

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

artículo científico publicado en 2008

Predisposición familiar a la ototoxicidad de los aminoglucósidos debido a la mutación A1555G del ADN mitocondrial

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

artículo científico publicado en 2003

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

artículo científico publicado en 2015

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

artículo científico publicado en 2002

Similar phenotypes caused by mutations in OTOG and OTOGL.

artículo científico publicado en 2014

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes

artículo científico publicado en 2007

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

artículo científico publicado el 1 de diciembre de 1992

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment ⬇️

artículo científico publicado el 1 de junio de 2011

Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing

artículo científico publicado en 2016

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene ⬇️

artículo científico publicado el 1 de septiembre de 1992

Lista de obras de Ignacio del Castillo

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.

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family ⬇️

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

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene

An unusual mechanism for resistance to the antibiotic coumermycin A1 ⬇️

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Characterization of the Chicken and Quail Homologues of the Human Gene Responsible for the X-Linked Kallmann Syndrome

Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132

Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

GJB2 mutations and degree of hearing loss: a multicenter study

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

Genetic etiology of non-syndromic hearing loss in Europe

Genetics of Hearing Impairment

Genetics of deafness

Genetics of isolated auditory neuropathies ⬇️

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

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

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Predisposición familiar a la ototoxicidad de los aminoglucósidos debido a la mutación A1555G del ADN mitocondrial

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Similar phenotypes caused by mutations in OTOG and OTOGL.

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment ⬇️

Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene ⬇️