CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 (Q34329675)

1 August 2017

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 (English)

1 reference

autosomal recessive congenital cerebellar ataxia

1 August 2017

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Valérie Delague

7

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Nicolas Levy

object named as

Nicolas Levy

5

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author name string

Elsa Nicolas

1

1 reference

1 August 2017

Yannick Poitelon

2

1 reference

1 August 2017

Eliane Chouery

3

1 reference

1 August 2017

Nabiha Salem

4

1 reference

1 August 2017

André Mégarbané

6

1 reference

1 August 2017

9 June 2010

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European Journal of Human Genetics

1 August 2017

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1 August 2017

18

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1 August 2017

10

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1 August 2017

1107-1113

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https://scigraph.springernature.com/pub.10.1038/ejhg.2010.82

1 August 2017

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Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

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Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

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Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

6 July 2018

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Zic2 controls cerebellar development in cooperation with Zic1

6 July 2018

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

6 July 2018

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New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family

6 July 2018

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Physical and functional interactions between Zic and Gli proteins

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Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

21 January 2018

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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

21 January 2018

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A single amino acid change in the first zinc finger of the DNA binding domain of the glucocorticoid receptor regulates differential promoter selectivity.

21 January 2018

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Activated Notch2 signaling inhibits differentiation of cerebellar granule neuron precursors by maintaining proliferation.

21 January 2018

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Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.

21 January 2018

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A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

27 October 2018

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Identical syndromes of cerebral palsy in the same family

21 January 2018

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9 December 2018

Identifiers

DOI

10.1038/EJHG.2010.82

1 reference

1 August 2017

1 reference

1 August 2017

1 reference