(Q40515350)

21 September 2017

1 reference

title

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture (English)

1 reference

21 September 2017

photoreceptor protein

0 references

author name string

A C Bird

series ordinal

1

1 reference

PubMed ID

7733180

21 September 2017

language of work or name

English

0 references

publication date

1 May 1995

1 reference

American Journal of Ophthalmology

21 September 2017

1 reference

21 September 2017

119

1 reference

21 September 2017

5

1 reference

21 September 2017

543-562

1 reference

Electrical responses of the light-adapted eye

21 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

The use of flicker electroretinography in the human eye; observations on some normal and pathological retinae

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Bietti's crystalline dystrophy. A clinicopathologic correlative study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

On the heredity of retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Retinitis pigmentosa. Genetic percentages

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Genetic aspects of retinitis pigmentosa in China

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Temporal Aspects of the Electroretinogram in Sector Retinitis Pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Two forms of autosomal dominant primary retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Rod and cone activity in patients with dominantly inherited retinitis pigmentosa: comparisons between psychophysical and electroretinographic measurements

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A fundus dystrophy with unusual features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Sorsby's fundus dystrophy. A light and electron microscopic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Sorsby's pseudoinflammatory macular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Sorsby's pseudoinflammatory macula dystrophy--Sorsby's fundus dystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Rhodopsin Thr58Arg Mutation in a Family with Autosomal Dominant Retinitis Pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cloning of a gene that is rearranged in patients with choroideraemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Isolation of a candidate gene for choroideremia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

North Carolina macular dystrophy is assigned to chromosome 6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Independent structural domains in the membrane protein bovine rhodopsin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Modification of ovine opsin with the photosensitive hydrophobic probe 1-azido-4-[125I]iodobenzene. Labelling of the chromophore-attachment domain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Molecular biology of the visual pigments

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Orientation of rhodopsin alpha-helices in in retinal rod outer segment membranes studied by infrared linear dichroism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

The partial primary structure of bovine rhodopsin and its topography in the retinal rod cell disc membrane

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A spectroscopic study of rhodopsin alpha-helix orientation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

On the mechanism of wavelength regulation in visual pigments

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Light-induced binding of guanosinetriphosphatase to bovine photoreceptor membranes: effect of limited proteolysis of the membranes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Light response of vertebrate photoreceptors.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Multiple tissues express alpha 1-antitrypsin in transgenic mice and man.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Protein degradation in the endoplasmic reticulum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Degradation from the endoplasmic reticulum: disposing of newly synthesized proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Constitutively active mutants of rhodopsin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Role of the intradiscal domain in rhodopsin assembly and function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Absence of receptor outer segments in the retina of rds mutant mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Development and degeneration of retina in rds mutant mice: electron microscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Changes in the localization and content of opsin during retinal development in the rds mutant mouse: immunocytochemistry and immunoassay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Development and degeneration of retina in rds mutant mice: altered disc shedding pattern in the albino heterozygotes and its relation to light exposure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Genomic imprinting in mammalian development: a parental tug-of-war

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Opposite imprinting of the mouse Igf2 and Igf2r genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Hereditary persistence of fetal hemoglobin. A family study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Retinal changes in sickle cell/hereditary persistence of fetal haemoglobin syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Inherited Retinal Dystrophy: Primary Defect in Pigment Epithelium Determined with Experimental Rat Chimeras

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Glucocorticoid-induced thymocyte apoptosis is associated with endogenous endonuclease activation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cell death: the significance of apoptosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Steroid regulation of neuronal death in the moth nervous system.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cell death during development of the nervous system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Social controls on cell survival and cell death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Chromatin changes in apoptosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Caenorhabditis elegans gene ced-9 protects cells from programmed cell death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Neither macromolecular synthesis nor myc is required for cell death via the mechanism that can be controlled by Bcl-2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

bcl-2 inhibits death of central neural cells induced by multiple agents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Bcl-2 gene promotes haemopoietic cell survival and cooperates with c-myc to immortalize pre-B cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Toward an understanding of the molecular mechanisms of physiological cell death.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Universal community carrier screening for cystic fibrosis?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A new procedure for multiple intraretinal transplantation into mammalian eyes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Retinal cell and photoreceptor transplantation between adult New Zealand red rabbit retinas

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A role for microglia in the maintenance of photoreceptors in retinal transplants lacking pigment epithelium.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cell death in the oligodendrocyte lineage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Cell death and control of cell survival in the oligodendrocyte lineage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

c-Myc-induced apoptosis in fibroblasts is inhibited by specific cytokines.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

The use of diagnostic registers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Localization of Usher syndrome type II to chromosome 1q.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Localization of two genes for Usher syndrome type I to chromosome 11.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Linkage analysis in X-linked ocular albinism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Linkage relationship between retinoschisis and four marker loci

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Two cases of X/autosome translocation in females with incontinentia pigmenti.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

inferred from DOI database lookup

7 January 2021

based on heuristic

Cystic fibrosis--a strategy for the future

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970212-0

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0002-9394(14)70212-0

1 reference

21 September 2017

1 reference

PubMed ID

7733180