Lista de obras - James A Poulter - 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 distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

artículo científico publicado en 2015

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

scientific article published on 06 December 2013

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

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

artículo científico publicado en 2017

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects ⬇️

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

artículo científico publicado en 2015

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

artículo científico publicado en 2017

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. ⬇️

artículo científico publicado en 2017

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

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 mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

scientific journal article

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

artículo científico publicado en 2019

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

artículo científico

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

artículo científico publicado en 2012

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

artículo científico publicado en 2012

New variants and in silico analyses in GRK1 associated Oguchi disease

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

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

artículo científico publicado en 2020

Patterns of inheritance, not always easily visible

artículo científico publicado en 2013

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

scientific article published on 24 March 2019

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

artículo científico publicado en 2013

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

artículo científico publicado en 2012

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 of PEX1 and PEX6 variants in Heimler syndrome ⬇️

artículo científico publicado en 2016

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

Lista de obras de James A Poulter

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

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

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

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

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 ⬇️

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

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects ⬇️

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

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. ⬇️

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 ⬇️

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 mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

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

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

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

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

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

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

New variants and in silico analyses in GRK1 associated Oguchi disease

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 ⬇️

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

Patterns of inheritance, not always easily visible

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

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

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

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

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

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