(Q36637441)

15 August 2017

1 reference

title

Gene-based approach to human gene-phenotype correlations (English)

1 reference

15 August 2017

1 reference

T P Dryja

1

1 reference

PMCID

23721

15 August 2017

language of work or name

English

0 references

publication date

1 October 1997

1 reference

Proceedings of the National Academy of Sciences of the United States of America

15 August 2017

1 reference

15 August 2017

94

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15 August 2017

12117-12121

1 reference

15 August 2017

22

1 reference

Aggressiveness, hypoalgesia and high blood pressure in mice lacking the adenosine A2a receptor

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Nonsyndromic hearing impairment: unparalleled heterogeneity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Genes responsible for human hereditary deafness: symphony of a thousand

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

How sensitive is PCR-SSCP?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Is vertebrate phototransduction solved? New insights into the molecular mechanism of phototransduction.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Molecular genetics of inherited variation in human color vision

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Molecular genetics of human blue cone monochromacy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Signal flow in visual transduction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Molecular genetic analysis of synaptic plasticity, activity-dependent neural development, learning, and memory in the mammalian brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Phototransduction mechanism in retinal rods and cones. The Friedenwald Lecture.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23721

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

28 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

21 January 2018

One gene—four syndromes

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

How many genes in the human genome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

Molecular genetics of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

Rhodopsin and Phototransduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

An electroretinographic and molecular genetic study of X-linked cone degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

The rise and fall of positional cloning?

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

Positional cloning moves from perditional to traditional

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

A medley of retinal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12117

21 January 2018

Identifiers

DOI

10.1073/PNAS.94.22.12117

1 reference

15 August 2017

0 references

1 reference

15 August 2017

1 reference

PMCID

23721