(Q21710708)

7 February 2023

46

Hélène Dollfus

Hélène

Dollfus

1 reference

7 February 2023

43

1 reference

ORCID Public Data File 2021

Kim Nguyen-Ba-Charvet

Kim Nguyen-Ba-Charvet

49

Kim

Nguyen-Ba-Charvet

1 reference

7 February 2023

Kinga Bujakowska

2

Kinga

Bujakowska

1 reference

7 February 2023

Christina Zeitz

52

Christina

Zeitz

1 reference

7 February 2023

Dominique Bonneau

35

Dominique

Bonneau

1 reference

7 February 2023

Susanne Kohl

7

Susanne

Kohl

1 reference

7 February 2023

Samuel G Jacobson

34

Samuel G

Jacobson

1 reference

7 February 2023

Elfride De Baere

31

Elfride

De Baere

1 reference

7 February 2023

Isabelle Audo

1

Isabelle

Audo

1 reference

7 February 2023

39

Robert Koenekoop

Robert

Koenekoop

1 reference

7 February 2023

32

Dror Sharon

Dror

Sharon

1 reference

7 February 2023

9

Odile Lecompte

Odile

Lecompte

1 reference

7 February 2023

11

Marie-Elise Lancelot

Marie-Elise

Lancelot

1 reference

7 February 2023

48

Thierry Léveillard

Thierry

Léveillard

1 reference

Veselina Moskova-Doumanova

7 February 2023

26

Veselina Moskova-Doumanova

Veselina

Moskova-Doumanova

1 reference

7 February 2023

20

Saddek Mohand-Saïd

Saddek

Mohand-Saïd

1 reference

7 February 2023

13

Aurore Germain

Aurore

Germain

1 reference

7 February 2023

3

Elise Orhan

Elise

Orhan

1 reference

7 February 2023

42

Katrina Prescott

Katrina

Prescott

1 reference

7 February 2023

16

Mélanie Letexier

Mélanie

Letexier

1 reference

7 February 2023

25

Agnes B Renner

Agnes B

Renner

1 reference

7 February 2023

12

Aline Antonio

Aline

Antonio

1 reference

7 February 2023

14

Christelle Michiels

Christelle

Michiels

1 reference

7 February 2023

23

Markus Preising

Markus

Preising

1 reference

7 February 2023

Charlotte M Poloschek

4

Charlotte M Poloschek

Charlotte M

Poloschek

1 reference

Sabine Defoort-Dhellemmes

7 February 2023

5

Sabine Defoort-Dhellemmes

Sabine

Defoort-Dhellemmes

1 reference

7 February 2023

15

Claire Audier

Claire

Audier

1 reference

7 February 2023

28

Bernd

Wissinger

Bernd Wissinger

1 reference

7 February 2023

Isabelle Drumare

6

Isabelle

Drumare

1 reference

7 February 2023

Tien D Luu

8

Tien D

Luu

1 reference

7 February 2023

Eberhart Zrenner

10

Eberhart

Zrenner

1 reference

7 February 2023

Jean-Paul Saraiva

17

Jean-Paul

Saraiva

1 reference

7 February 2023

Bart P Leroy

18

Bart P

Leroy

1 reference

7 February 2023

Francis L Munier

19

Francis L

Munier

1 reference

7 February 2023

Birgit Lorenz

21

Birgit

Lorenz

1 reference

7 February 2023

Christoph Friedburg

22

Christoph

Friedburg

1 reference

7 February 2023

Ulrich Kellner

24

Ulrich

Kellner

1 reference

7 February 2023

Wolfgang Berger

27

Wolfgang

Berger

1 reference

7 February 2023

Christian P Hamel

29

Christian P

Hamel

1 reference

7 February 2023

Daniel F Schorderet

30

Daniel F

Schorderet

1 reference

7 February 2023

Eyal Banin

33

Eyal

Banin

1 reference

7 February 2023

Xavier Zanlonghi

36

Xavier

Zanlonghi

1 reference

7 February 2023

Guylene Le Meur

37

Guylene

Le Meur

1 reference

7 February 2023

Ingele Casteels

38

Ingele

Casteels

1 reference

7 February 2023

Vernon W Long

40

Vernon W

Long

1 reference

7 February 2023

Francoise Meire

41

Francoise

Meire

1 reference

7 February 2023

Ian Simmons

44

Ian

Simmons

1 reference

7 February 2023

Hoan Nguyen

45

Hoan

Nguyen

1 reference

7 February 2023

Olivier Poch

47

Olivier

Poch

1 reference

7 February 2023

Shomi S Bhattacharya

51

Shomi S

Bhattacharya

1 reference

American Journal of Human Genetics

7 February 2023

language of work or name

English

0 references

publication date

10 February 2012

0 references

published in

0 references

volume

90

0 references

issue

2

0 references

page(s)

321-30

0 references

cites work

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Predicting deleterious amino acid substitutions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

The Universal Protein Resource (UniProt) in 2010

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Potassium channel Kir4.1 macromolecular complex in retinal glial cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Exome sequencing as a tool for Mendelian disease gene discovery

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Protein structure modeling with MODELLER

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Structural diversity of G protein-coupled receptors and significance for drug discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

TRPM1 mutations are associated with the complete form of congenital stationary night blindness

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Genotyping microarray for CSNB-associated genes.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

How well can the accuracy of comparative protein structure models be predicted?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Localization of nyctalopin in the mammalian retina.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

PipeAlign: A new toolkit for protein family analysis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Differential distribution of dystrophins in rat retina

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Localization of mGluR6 to dendrites of ON bipolar cells in primate retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Congenital stationary night blindness with negative electroretinogram. A new classification

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Differential effect of the rd mutation on rods and cones in the mouse retina

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

ISCEV Standard for full-field clinical electroretinography (2008 update).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Mildly abnormal retinal function in transgenic mice without Müller cell aquaporin-4 water channels

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276675

Photoreceptor-specific mRNAs in mice carrying different allelic combinations at the rd and rds loci

29 November 2018

1 reference

12 December 2020

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

1 reference

12 December 2020

The effects of dystrophin gene mutations on the ERG in mice and humans

1 reference

12 December 2020

[Analysis of the human electroretinogram]

1 reference

12 December 2020

10.1016/J.AJHG.2011.12.007

Identifiers

DOI

0 references

Fatcat ID

release_itcw3ruc35a2rk3eol4jn3o72m

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/itcw3ruc35a2rk3eol4jn3o72m

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3276675

0 references