(Q24300726)

13

0 references

Lisette Hetterschijt

11

Lisette Hetterschijt

0 references

Susanne Roosing

Susanne Roosing

1

0 references

Stanley Lambertus

Stanley Lambertus

5

0 references

Hannie Kremer

10

Hannie Kremer

0 references

Frans P M Cremers

16

Frans P M Cremers

0 references

Anneke den Hollander

15

Anneke I den Hollander

0 references

Carel B Hoyng

9

Carel B Hoyng

0 references

L Ingeborgh van den Born

4

L Ingeborgh van den Born

0 references

author name string

Ideke J C Lamers

2

0 references

Erik de Vrieze

3

0 references

Heleen H Arts

6

0 references

Theo A Peters

8

0 references

Stef J F Letteboer

American Journal of Human Genetics

12

0 references

language of work or name

English

0 references

publication date

7 August 2014

0 references

published in

0 references

volume

95

0 references

issue

2

0 references

page(s)

131-42

0 references

cites work

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19 March 2017

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

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19 March 2017

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

19 March 2017

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The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association

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Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

19 March 2017

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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

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Partitioning of lipid-modified monomeric GFPs into membrane microdomains of live cells

7 April 2017

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A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

7 April 2017

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Detection of nonneutral substitution rates on mammalian phylogenies

7 April 2017

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27 September 2017

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Retinal structure and function in achromatopsia: implications for gene therapy.

27 September 2017

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

27 September 2017

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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

27 September 2017

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27 September 2017

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Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

27 September 2017

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27 September 2017

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27 September 2017

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The molecular basis of human retinal and vitreoretinal diseases

27 September 2017

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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

27 September 2017

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Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control

27 September 2017

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Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells

27 September 2017

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New Tetrahymena basal body protein components identify basal body domain structure

27 September 2017

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The cone dysfunction syndromes

27 September 2017

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Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

27 September 2017

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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

27 September 2017

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Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

29 November 2018

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A proximal centriole-like structure is present in Drosophila spermatids and can serve as a model to study centriole duplication

29 November 2018

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

29 November 2018

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Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

29 November 2018

1 reference

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10.1016/J.AJHG.2014.06.012

29 November 2018

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

25018096

1 reference