Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. (Q34415995)

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11 January 2020

title

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome (English)

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11 January 2020

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12

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11 January 2020

Isabella Borg

1

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11 January 2020

Kristine Freude

2

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11 January 2020

Niels Tommerup

9

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David R Sargan

11

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11 January 2020

7

Helen Firth

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11 January 2020

10

Hans-Hilger Ropers

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11 January 2020

author name string

Sabine Kübart

3

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11 January 2020

Kirsten Hoffmann

4

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11 January 2020

Corinna Menzel

5

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11 January 2020

Franco Laccone

6

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11 January 2020

Malcolm A Ferguson-Smith

8

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11 January 2020

publication date

1 August 2005

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European Journal of Human Genetics

11 January 2020

published in

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volume

13

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11 January 2020

page(s)

921-927

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11 January 2020

issue

8

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201429

11 January 2020

exact match

0 references

cites work

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

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Rett syndrome: the complex nature of a monogenic disease

21 January 2018

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

1 reference

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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

21 January 2018

1 reference

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Sequence properties of GPI-anchored proteins near the omega-site: constraints for the polypeptide binding site of the putative transamidase

21 January 2018

1 reference

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Complementary expression and neurite outgrowth activity of netrin-G subfamily members

21 January 2018

1 reference

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Laminets: laminin- and netrin-related genes expressed in distinct neuronal subsets

21 January 2018

1 reference

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The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons

21 January 2018

1 reference

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The repulsive guidance molecule RGMa is involved in the formation of afferent connections in the dentate gyrus.

21 January 2018

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A genomic screen of autism: evidence for a multilocus etiology

21 January 2018

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Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families.

21 January 2018

1 reference

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An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Netrin-G1: a novel glycosyl phosphatidylinositol-linked mammalian netrin that is functionally divergent from classical netrins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201429