Lista de obras - Barry A Chioza - Dominio Público Uruguay

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

artículo científico publicado en 2016

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

artículo científico publicado en 2015

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

scientific article published on 03 January 2017

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

artículo científico publicado en 2016

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

artículo científico publicado en 2015

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

artículo científico publicado en 2019

CACNA1A and P/Q-type calcium channels in epilepsy

artículo científico publicado en 2002

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

artículo científico publicado en 2017

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

artículo científico publicado en 1997

Defective mitochondrial mRNA maturation is associated with spastic ataxia

artículo científico publicado en 2010

Defective presynaptic choline transport underlies hereditary motor neuropathy.

artículo científico publicado en 2012

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

artículo científico publicado en 2013

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

artículo científico publicado en 1999

Evaluation of CACNA1H in European patients with childhood absence epilepsy

artículo científico publicado en 2006

Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor ?4 subunit (CHRNA4) and IGE

article

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

artículo científico publicado en 2016

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

artículo científico publicado en 2008

GermlineCBLmutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

article

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

scientific article published on 03 June 2019

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy

article

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

artículo científico publicado en 2014

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

artículo científico publicado en 2018

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing

article

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

article

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

artículo científico publicado en 2008

Loss of PCLO function underlies pontocerebellar hypoplasia type III

artículo científico publicado en 2015

MNS1 variant associated with situs inversus and male infertility

scientific article published on 18 September 2019

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2018

Mutation of HERC2 causes developmental delay with Angelman-like features.

artículo científico publicado en 2012

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

artículo científico publicado en 2013

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

artículo científico publicado en 2017

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

scientific journal article

Mutations in all five exons ofSOD-1 may cause ALS

artículo científico publicado en 1998

Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 1 de junio de 2001

No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study

article

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

artículo científico publicado en 2016

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

artículo científico publicado en 2016

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

artículo científico publicado en 2017

Raine syndrome: an overview.

artículo científico

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

artículo científico publicado en 1998

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

artículo científico publicado en 2015

SLITRK6 mutations cause myopia and deafness in humans and mice

artículo científico publicado en 2013

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes

artículo científico publicado en 2002

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

artículo científico publicado en 2018

Lista de obras de Barry A Chioza

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

CACNA1A and P/Q-type calcium channels in epilepsy

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

Defective mitochondrial mRNA maturation is associated with spastic ataxia

Defective presynaptic choline transport underlies hereditary motor neuropathy.

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

Evaluation of CACNA1H in European patients with childhood absence epilepsy

Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor ?4 subunit (CHRNA4) and IGE

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

GermlineCBLmutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Loss of PCLO function underlies pontocerebellar hypoplasia type III

MNS1 variant associated with situs inversus and male infertility

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Mutation of HERC2 causes developmental delay with Angelman-like features.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

Mutations in all five exons ofSOD-1 may cause ALS

Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis ⬇️

No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Raine syndrome: an overview.

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

SLITRK6 mutations cause myopia and deafness in humans and mice

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.