Lista de obras - Christina Zeitz - Dominio Público Uruguay

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

artículo científico publicado en 2018

A common NYX mutation in Flemish patients with X linked CSNB.

artículo científico publicado en 2008

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

artículo científico publicado en 2010

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

artículo científico publicado en 2019

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

artículo científico publicado en 2016

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

artículo científico publicado en 2011

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.

artículo científico publicado en 2017

A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family

artículo científico publicado en 2018

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

artículo científico publicado en 2017

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

artículo científico publicado en 2017

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.

artículo científico publicado en 2018

An unusual retinal phenotype associated with a novel mutation in RHO.

artículo científico publicado en 2010

Aripiprazole-induced chorioretinopathy: multimodal imaging and electrophysiological features

artículo científico publicado en 2015

Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness.

artículo científico publicado en 2013

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

artículo científico publicado en 2016

CRB1 mutations in inherited retinal dystrophies

artículo científico publicado en 2011

Case of Alström syndrome with late presentation dilated cardiomyopathy ⬇️

artículo científico publicado el 1 de diciembre de 2001

Cone dystrophy in patient with homozygous RP1L1 mutation.

artículo científico publicado en 2015

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms

artículo científico publicado en 2014

Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP ⬇️

artículo científico publicado el 29 de julio de 2011

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements ⬇️

artículo científico publicado el 1 de septiembre de 2001

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

artículo científico publicado en 2013

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

artículo científico publicado en 2012

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

artículo científico publicado en 2013

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness

scientific article published on 13 April 2019

EYS is a major gene for rod-cone dystrophies in France.

artículo científico publicado en 2010

Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

article

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

artículo científico publicado en 2017

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

artículo científico publicado en 2013

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

scientific article published on 05 November 2019

Genotypic and phenotypic characterization of P23H line 1 rat model

artículo científico publicado en 2015

Genotyping microarray for CSNB-associated genes.

artículo científico publicado en 2009

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

artículo científico publicado en 2014

Identification and characterization of a novel RPGR isoform in human retina

article

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

scientific article published on 23 April 2020

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

artículo científico publicado en 2008

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

artículo científico publicado en 2016

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness

artículo científico publicado en 2019

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.

artículo científico publicado en 2003

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

scientific article published on March 2017

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.

artículo científico publicado en 2015

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

artículo científico publicado en 2019

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

scientific journal article

MERTK mutations update in inherited retinal diseases.

artículo científico publicado en 2018

Macular sensitivity in patients with congenital stationary night-blindness

artículo científico publicado en 2018

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

artículo científico publicado en 2013

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

artículo científico publicado en 2017

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

artículo científico publicado en 2006

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

artículo científico publicado en 2008

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2010

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

artículo científico publicado en 2006

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

artículo científico publicado en 2005

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

artículo científico publicado en 2014

Mutations in IMPG1 cause vitelliform macular dystrophies.

artículo científico publicado en 2013

NMNAT1 mutations cause Leber congenital amaurosis

artículo científico publicado en 2012

NYX(Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein ⬇️

artículo científico publicado el 1 de octubre de 2003

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes

artículo científico publicado en 2019

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

artículo científico publicado en 2015

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

artículo científico publicado en 2016

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

artículo científico publicado en 2011

Novel Missense Mutations in Are Associated with Bestrophinopathies in Lebanese Patients

article

Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

artículo científico publicado en 2008

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

scientific article published on 18 March 2017

Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina.

artículo científico publicado en 2006

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

artículo científico publicado en 2019

Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance

artículo científico publicado en 2018

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

artículo científico publicado en 2019

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

article

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

artículo científico publicado en 2010

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

artículo científico

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

artículo científico publicado en 2013

Retinal findings in a patient of French ancestry with CABP4-related retinal disease

artículo científico publicado en 2018

Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association

scientific article published on 26 July 2018

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models

artículo científico publicado en 2018

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

artículo científico publicado en 2014

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

artículo científico publicado en 2010

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

scientific article published on 19 August 2019

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2009

TRPM1, un nouveau gène impliqué dans la cécité nocturne congénitale stationnaire

article

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

artículo científico publicado en 2015

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

artículo científico publicado en 2013

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

artículo científico publicado en 2018

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

artículo científico publicado en 2014

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

cDNA subtraction cloning reveals novel genes whose temporal and spatial expression indicates association with trophoblast invasion

scientific journal article

Lista de obras de Christina Zeitz

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

A common NYX mutation in Flemish patients with X linked CSNB.

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.

A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.

An unusual retinal phenotype associated with a novel mutation in RHO.

Aripiprazole-induced chorioretinopathy: multimodal imaging and electrophysiological features

Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

CRB1 mutations in inherited retinal dystrophies

Case of Alström syndrome with late presentation dilated cardiomyopathy ⬇️

Cone dystrophy in patient with homozygous RP1L1 mutation.

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms

Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP ⬇️

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements ⬇️

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness

EYS is a major gene for rod-cone dystrophies in France.

Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

Genotypic and phenotypic characterization of P23H line 1 rat model

Genotyping microarray for CSNB-associated genes.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

Identification and characterization of a novel RPGR isoform in human retina

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

MERTK mutations update in inherited retinal diseases.

Macular sensitivity in patients with congenital stationary night-blindness

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Mutations in IMPG1 cause vitelliform macular dystrophies.

NMNAT1 mutations cause Leber congenital amaurosis

NYX(Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein ⬇️

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Novel Missense Mutations in Are Associated with Bestrophinopathies in Lebanese Patients

Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina.

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Retinal findings in a patient of French ancestry with CABP4-related retinal disease

Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

TRPM1, un nouveau gène impliqué dans la cécité nocturne congénitale stationnaire