(Q40147015)

17 September 2017

title

C5orf42 is the major gene responsible for OFD syndrome type VI. (English)

1 reference

17 September 2017

27

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17 September 2017

25

Hülya Kayserili

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Martine Le Merrer

13

Martine Le Merrer

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Tania Attié-Bitach

32

Tania Attié-Bitach

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Cédric Le Caignec

28

Cédric Le Caignec

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Brunella Franco

Brunella Franco

29

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Didier Lacombe

Didier Lacombe

9

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Laurence Faivre

31

Laurence Faivre

1 reference

17 September 2017

Christel Thauvin-Robinet

2

Christel Thauvin-Robinet

1 reference

17 September 2017

Estelle Lopez

1

1 reference

17 September 2017

Bruno Reversade

3

1 reference

17 September 2017

Nadia El Khartoufi

4

1 reference

17 September 2017

Louise Devisme

5

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17 September 2017

Muriel Holder

6

1 reference

17 September 2017

Hélène Ansart-Franquet

7

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17 September 2017

Magali Avila

8

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17 September 2017

Pascale Kleinfinger

10

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17 September 2017

Irahara Kaori

11

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17 September 2017

Jun-Ichi Takanashi

12

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17 September 2017

Jelena Martinovic

14

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17 September 2017

Catherine Noël

15

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17 September 2017

Mohammad Shboul

16

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17 September 2017

Lena Ho

17

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17 September 2017

Yeliz Güven

18

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17 September 2017

Ferechté Razavi

19

1 reference

17 September 2017

Lydie Burglen

20

1 reference

17 September 2017

Nadège Gigot

21

1 reference

17 September 2017

Véronique Darmency-Stamboul

22

1 reference

17 September 2017

Julien Thevenon

23

1 reference

17 September 2017

Bernard Aral

24

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17 September 2017

Frédéric Huet

26

1 reference

17 September 2017

Jean-Baptiste Rivière

30

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17 September 2017

language of work or name

1 reference

1 November 2013

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17 September 2017

1 reference

17 September 2017

volume

133

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17 September 2017

issue

3

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17 September 2017

page(s)

367-377

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-013-1385-1

17 September 2017

exact match

0 references

cites work

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Molecular characterization of Joubert syndrome in Saudi Arabia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Joubert Syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Integrative genomics viewer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Mutations in TMEM231 cause Joubert syndrome in French Canadians

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

TCTN3 mutations cause Mohr-Majewski syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

The BBSome controls IFT assembly and turnaround in cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Oral–facial–digital syndromes: Review and diagnostic guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1385-1

Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

21 January 2018

1 reference

12 December 2020

Six patients with oral-facial-digital syndrome IV: the case for heterogeneity

1 reference

12 December 2020

Oral-facial-digital syndrome with fibular aplasia: a new variant.

1 reference

12 December 2020

Prenatal diagnosis of episodic tachypnea in an infant with OFD VI

1 reference

12 December 2020

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

1 reference

12 December 2020

10.1007/S00439-013-1385-1

Identifiers

DOI

1 reference

Dimensions Publication ID

17 September 2017

1049964831

0 references

1 reference