(Q28236665)

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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

scientific article (publication date: August 2007)

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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth (English)

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17

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object named as

Evan Reid

13

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object named as

Didier Lacombe

10

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Valérie Cormier-Daire

object named as

Valerie Cormier-Daire

14

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7

object named as

John Burn

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author name string

Jenny Douglas

1

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Deirdre Cilliers

2

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Kim Coleman

3

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Katrina Tatton-Brown

4

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Karen Barker

5

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Brigitte Bernhard

6

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Susan Huson

8

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Dragana Josifova

9

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Mohsin Malik

11

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Sahar Mansour

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Trevor Cole

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publication date

August 2007

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Nature Genetics

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39

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8

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963-5

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

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https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

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https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Childhood overgrowth in patients with common NF1 microdeletions.

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosomal phenotypes and submicroscopic abnormalities

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https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

RING finger proteins: mediators of ubiquitin ligase activity

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG2083

7 January 2021

based on heuristic

inferred from DOI database lookup

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