Lista de obras - Michael S Hildebrand - Dominio Público Uruguay

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

artículo científico publicado en 2008

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

artículo científico publicado en 2009

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

artículo científico publicado en 2010

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

artículo científico publicado en 2007

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

artículo científico publicado en 2009

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

artículo científico publicado en 2014

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

artículo científico publicado en 2018

A targeted resequencing gene panel for focal epilepsy.

artículo científico publicado en 2016

Advances in molecular and cellular therapies for hearing loss.

artículo científico publicado en 2007

Advancing genetic testing for deafness with genomic technology

artículo científico publicado en 2013

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

artículo científico publicado en 2013

Audioprofile Surfaces: The 21st Century Audiogram

artículo científico publicado en 2015

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

artículo científico publicado en 2008

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

article published in 2008

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

artículo científico publicado en 2018

CFTR-deficient pigs display peripheral nervous system defects at birth

artículo científico publicado en 2013

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

artículo científico publicado en 2011

Characterisation of DRASIC in the mouse inner ear.

artículo científico publicado en 2004

Characterization of speech and language phenotype in children with NRXN1 deletions

artículo científico publicado en 2018

Clinical aspects of hereditary hearing loss.

artículo científico publicado en 2007

Cochlear implants for DFNA17 deafness

artículo científico publicado en 2006

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Deafness in the genomics era

artículo científico publicado en 2011

Development of a rapid functional assay that predicts GLUT1 disease severity

artículo científico publicado en 2018

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

artículo científico publicado en 2016

Does variation in NIPA2 contribute to genetic generalized epilepsy?

scientific article published on 10 January 2014

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

artículo científico publicado en 2017

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

artículo científico publicado en 2015

Evaluation of non-coding variation in GLUT1 deficiency

artículo científico publicado en 2016

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

artículo científico publicado en 2018

Expression of the carrier protein apolipoprotein D in the mouse inner ear.

artículo científico publicado en 2005

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

artículo científico publicado en 2010

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

Gain-of-function HCN2 variants in genetic epilepsy.

artículo científico publicado en 2017

Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway

artículo científico publicado en 2006

Gene expression profiling analysis of the inner ear.

artículo científico publicado en 2007

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

artículo científico

Genetic male infertility and mutation of CATSPER ion channels.

artículo científico publicado en 2010

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

artículo científico publicado en 2011

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

article

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

artículo científico publicado en 2015

Human male infertility caused by mutations in the CATSPER1 channel protein

artículo científico publicado en 2009

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

artículo científico publicado en 2023

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

artículo científico publicado en 2016

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

artículo científico publicado en 2019

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

artículo científico publicado en 2024

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

scientific journal article

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

artículo científico publicado en 2011

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

artículo científico publicado en 2007

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

artículo científico publicado en 2009

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

artículo científico publicado en 2015

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

artículo científico publicado en 2009

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

artículo científico publicado en 2009

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

artículo científico publicado en 2016

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

artículo científico

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

artículo científico publicado en 2015

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

artículo científico publicado en 2012

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis

artículo científico publicado en 2012

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

artículo científico publicado en 2017

Recent advances in the molecular genetics of epilepsy.

artículo científico

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

artículo científico publicado en 2011

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

artículo científico publicado en 2017

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

article

Solution-based targeted genomic enrichment for precious DNA samples

artículo científico publicado en 2012

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

artículo científico publicado en 2018

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

scientific article published on 24 September 2018

Survival of partially differentiated mouse embryonic stem cells in the scala media of the guinea pig cochlea.

artículo científico publicado en 2005

Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission

artículo científico publicado en 2023

Using the phenome and genome to improve genetic diagnosis for deafness.

artículo científico publicado en 2012

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

artículo científico publicado en 2014

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

artículo científico publicado en 2010

Viral vector tropism for supporting cells in the developing murine cochlea.

artículo científico publicado en 2011

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

artículo científico publicado en 2018

miRNA mutations are not a common cause of deafness.

artículo científico publicado en 2010

Lista de obras de Michael S Hildebrand

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

A targeted resequencing gene panel for focal epilepsy.

Advances in molecular and cellular therapies for hearing loss.

Advancing genetic testing for deafness with genomic technology

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Audioprofile Surfaces: The 21st Century Audiogram

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

CFTR-deficient pigs display peripheral nervous system defects at birth

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

Characterisation of DRASIC in the mouse inner ear.

Characterization of speech and language phenotype in children with NRXN1 deletions

Clinical aspects of hereditary hearing loss.

Cochlear implants for DFNA17 deafness

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

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

Deafness in the genomics era

Development of a rapid functional assay that predicts GLUT1 disease severity

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

Evaluation of non-coding variation in GLUT1 deficiency

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

Expression of the carrier protein apolipoprotein D in the mouse inner ear.

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gain-of-function HCN2 variants in genetic epilepsy.

Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway

Gene expression profiling analysis of the inner ear.

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Genetic male infertility and mutation of CATSPER ion channels.

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

Human male infertility caused by mutations in the CATSPER1 channel protein

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Recent advances in the molecular genetics of epilepsy.

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

Solution-based targeted genomic enrichment for precious DNA samples

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Survival of partially differentiated mouse embryonic stem cells in the scala media of the guinea pig cochlea.

Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission

Using the phenome and genome to improve genetic diagnosis for deafness.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Viral vector tropism for supporting cells in the developing murine cochlea.

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

miRNA mutations are not a common cause of deafness.