Lista de obras - Maria Bitner-Glindzicz - Dominio Público Uruguay

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

artículo científico publicado en 2015

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

artículo científico publicado en 2009

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

artículo científico publicado en 2006

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

artículo científico publicado en 2017

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

artículo científico publicado en 2007

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited

artículo científico publicado en 2011

Clinical utility gene card for: Wolfram syndrome

artículo científico publicado en 2016

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

artículo científico publicado en 2016

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

artículo científico publicado en 2011

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

artículo científico publicado en 2016

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

artículo científico publicado en 2005

Development of a genotyping microarray for Usher syndrome

artículo científico publicado en 2006

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

artículo científico publicado en 2006

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

artículo científico publicado en 2013

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

artículo científico publicado en 2010

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

artículo científico publicado en 2015

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

artículo científico publicado en 2006

GJB2 mutations and degree of hearing loss: a multicenter study

artículo científico publicado en 2005

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

artículo científico publicado en 2014

Genetic investigations in childhood deafness

artículo científico publicado en 2014

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes

artículo científico publicado en 2009

Gentamicin, genetic variation and deafness in preterm children

artículo científico publicado en 2014

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study ⬇️

artículo científico publicado el 5 de enero de 2012

Hereditary deafness and phenotyping in humans

artículo científico publicado en 2002

Investigation of the child with permanent hearing impairment

artículo científico publicado en 2010

Kantaputra mesomelic dysplasia: a second reported family

artículo científico publicado en 2004

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

artículo científico publicado en 2013

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

artículo científico publicado en 2010

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

artículo científico publicado en 2010

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

artículo científico publicado en 2014

Mutation analyses of Uroplakin II in children with renal tract malformations

artículo científico publicado en 2006

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

artículo científico publicado en 2014

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations

artículo científico publicado en 2007

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

artículo científico publicado en 2014

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

artículo científico publicado en 2011

Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss

artículo científico publicado en 2011

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

scientific journal article

Ototoxicity caused by aminoglycosides

artículo científico publicado en 2007

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

artículo científico publicado en 2012

Republished: Genetic investigations in childhood deafness

artículo científico

STAG3 truncating variant as the cause of primary ovarian insufficiency

artículo científico publicado en 2015

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

artículo científico publicado en 2013

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

artículo científico publicado en 2006

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders

scientific article published on 14 January 2019

The changing face of Usher syndrome: clinical implications

artículo científico publicado en 2007

The effect of the common c.2299delG mutation in USH2A on RNA splicing

artículo científico publicado en 2014

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

artículo científico publicado en 2013

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

artículo científico publicado en 2022

Update on Usher syndrome

artículo científico publicado en 2009

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

artículo científico publicado en 2022

Lista de obras de Maria Bitner-Glindzicz

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited

Clinical utility gene card for: Wolfram syndrome

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

Development of a genotyping microarray for Usher syndrome

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

GJB2 mutations and degree of hearing loss: a multicenter study

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Genetic investigations in childhood deafness

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes

Gentamicin, genetic variation and deafness in preterm children

Hearing in 44–45 year olds with m.1555A&gt;G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study ⬇️

Hereditary deafness and phenotyping in humans

Investigation of the child with permanent hearing impairment

Kantaputra mesomelic dysplasia: a second reported family

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

Mutation analyses of Uroplakin II in children with renal tract malformations

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

Ototoxicity caused by aminoglycosides

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

Republished: Genetic investigations in childhood deafness

STAG3 truncating variant as the cause of primary ovarian insufficiency

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders

The changing face of Usher syndrome: clinical implications

The effect of the common c.2299delG mutation in USH2A on RNA splicing

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

Update on Usher syndrome

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study ⬇️