Lista de obras - Chris F. Inglehearn - Dominio Público Uruguay

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

artículo científico publicado en 2017

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

artículo científico publicado en 2018

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

artículo científico publicado en 2015

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

artículo científico publicado en 2015

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

scientific article published on 06 December 2013

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

artículo científico publicado en 2008

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

artículo científico publicado en 2013

Amelogenesis Imperfecta; Genes, Proteins, and Pathways ⬇️

artículo científico publicado en 2017

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress ⬇️

artículo científico publicado en 2017

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model ⬇️

artículo científico publicado el 18 de junio de 2013

Analysis of candidate genes for macular telangiectasia type 2

artículo científico publicado en 2010

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

artículo científico publicado en 2015

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

artículo científico publicado en 2017

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

artículo científico publicado en 2015

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

artículo científico publicado en 2009

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome ⬇️

artículo científico publicado en 2014

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

artículo científico publicado en 2017

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

artículo científico publicado en 2008

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta ⬇️

artículo científico publicado en 2017

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

artículo científico publicado en 2014

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta ⬇️

artículo científico publicado en 2016

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene ⬇️

artículo científico publicado en 2015

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

artículo científico publicado en 2014

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

artículo científico publicado en 2011

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

artículo científico publicado en 2015

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

artículo científico publicado en 2011

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

artículo científico publicado en 2002

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

artículo científico publicado en 2008

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

artículo científico

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

artículo científico publicado en 2009

Matrix metalloproteinases in keratoconus - Too much of a good thing?

scientific article published on 23 March 2019

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan

artículo científico publicado en 2009

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

artículo científico

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

artículo científico publicado en 2014

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

artículo científico publicado en 2012

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

artículo científico publicado en 2009

Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa ⬇️

artículo científico publicado el 1 de enero de 2002

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

artículo científico publicado en 2007

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

artículo científico publicado en 2004

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

artículo científico publicado en 2012

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

artículo científico publicado en 2010

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

artículo científico publicado en 2010

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

artículo científico publicado en 2002

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

artículo científico publicado en 2006

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

artículo científico publicado en 2009

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

artículo científico publicado en 2016

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

artículo científico publicado en 2016

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

artículo científico publicado en 2020

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

artículo científico publicado en 2011

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin ⬇️

artículo científico publicado en 2015

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome ⬇️

artículo científico publicado en 2018

Null mutations in LTBP2 cause primary congenital glaucoma

artículo científico publicado en 2009

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

artículo científico publicado en 2004

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

scientific article published on 24 March 2019

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

artículo científico publicado en 2010

Proteomic profiling of the retinal dysplasia and degeneration chick retina. ⬇️

artículo científico publicado en 2010

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

artículo científico publicado en 2006

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

artículo científico publicado en 2003

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

artículo científico publicado en 2013

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

artículo científico publicado en 2017

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

artículo científico publicado en 2004

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

artículo científico publicado en 2016

The Influence of Lamellar Orientation on Corneal Material Behavior: Biomechanical and Structural Changes in an Avian Corneal Disorder ⬇️

artículo científico publicado el 10 de marzo de 2011

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway ⬇️

artículo científico publicado en 2015

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress ⬇️

artículo científico publicado en 2017

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

artículo científico publicado en 2011

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

artículo científico publicado en 2015

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta ⬇️

artículo científico publicado en 2013

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

artículo científico publicado en 2013

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

artículo científico publicado en 2007

Lista de obras de Chris F. Inglehearn

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

Amelogenesis Imperfecta; Genes, Proteins, and Pathways ⬇️

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress ⬇️

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model ⬇️

Analysis of candidate genes for macular telangiectasia type 2

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome ⬇️

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta ⬇️

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta ⬇️

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene ⬇️

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

Matrix metalloproteinases in keratoconus - Too much of a good thing?

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa ⬇️

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin ⬇️

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome ⬇️

Null mutations in LTBP2 cause primary congenital glaucoma

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Proteomic profiling of the retinal dysplasia and degeneration chick retina. ⬇️

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

The Influence of Lamellar Orientation on Corneal Material Behavior: Biomechanical and Structural Changes in an Avian Corneal Disorder ⬇️

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway ⬇️

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress ⬇️

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta ⬇️

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast