CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders (Q24676633)

31

0 references

Enza Maria Valente

33

0 references

Francesco Brancati

1

0 references

Lihadh Al-Gazali

10

0 references

Hulya Kayserili

9

0 references

Stephanie L. Bielas

Stephanie L Bielas

6

0 references

Lorena Travaglini

Lorena Travaglini

5

0 references

Elisa Fazzi

Elisa Fazzi

14

0 references

Enrico Bertini

Enrico Bertini

11

0 references

Maria Amorini

Maria Amorini

7

0 references

Shubha R Phadke

Shubha R Phadke

20

0 references

Joseph G Gleeson

34

Joseph G Gleeson

0 references

Gustavo Maegawa

0 references

Maha Zaki

1 reference

Kathryn J Swoboda

1 reference

Ghada M Abdel-Salam

1 reference

Gian Marco Ghiggeri

1 reference

Alice Abdel Aleem

1 reference

Chiara Pantaleoni

1 reference

Raoul Hennekam

16

Raoul C M Hennekam

0 references

Jennifer L Silhavy

3

Jennifer L Silhavy

0 references

Luciana Rigoli

21

Luciana Rigoli

0 references

Carmelo D Salpietro

23

Carmelo D Salpietro

0 references

Sabrina Signorini

25

Sabrina Signorini

0 references

Giuseppe Barrano

2

Giuseppe Barrano

0 references

Melissa Lees

18

Melissa M Lees

0 references

Eugen Boltshauser

12

Eugen Boltshauser

0 references

author name string

Sarah E Marsh

4

0 references

Dominika Zablocka

8

0 references

Marc D'Hooghe

13

0 references

Elif Y Fenerci

15

0 references

Andrea Kiss

17

0 references

Elysa Marco

19

0 references

Stephane Romano

22

0 references

Elliott H Sherr

24

0 references

Petter Stromme

26

0 references

Bernard Stuart

27

0 references

Laszlo Sztriha

28

0 references

David H Viskochil

29

0 references

Adnan Yuksel

30

0 references

The International JSRD Study Group

American Journal of Human Genetics

32

0 references

language of work or name

English

0 references

publication date

July 2007

0 references

published in

0 references

volume

81

0 references

issue

1

0 references

page(s)

104-13

0 references

cites work

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

7 April 2017

1 reference

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

7 April 2017

1 reference

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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

7 April 2017

1 reference

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

7 April 2017

1 reference

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Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

7 April 2017

1 reference

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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

7 April 2017

1 reference

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Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

7 April 2017

1 reference

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Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

7 April 2017

1 reference

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Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

7 April 2017

1 reference

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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

7 April 2017

1 reference

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

7 April 2017

1 reference

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

7 April 2017

1 reference

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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

7 April 2017

1 reference

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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

7 April 2017

1 reference

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Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis

7 April 2017

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Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

7 April 2017

1 reference

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The Meckel syndrome: clinicopathological findings in 67 patients

7 April 2017

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

7 April 2017

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Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II

7 April 2017

1 reference

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Retinitis pigmentosa and renal failure in a patient with mutations in INVS.

7 April 2017

1 reference

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Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

28 September 2017

1 reference

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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950920

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950920

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

28 September 2017

1 reference

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Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis

28 September 2017

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"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.

28 September 2017

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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

30 May 2018

1 reference

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

28 November 2018

1 reference

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28 November 2018

Identifiers

DOI

10.1086/519026

1 reference

4116975

4116975

1 reference

1 reference

1 reference