(Q46468042)

English

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

scientific article published on 23 July 2008

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18648396%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18648396%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Contiguous gene syndrome

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1

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11 January 2020

8

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11 January 2020

author name string

Aurélie de Saint-Trivier

2

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11 January 2020

Ingrid Laurendeau

3

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11 January 2020

Anne Dieux-Coeslier

4

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11 January 2020

Béatrice Parfait

5

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11 January 2020

Michel Vidaud

6

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11 January 2020

Dominique Vidaud

7

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11 January 2020

publication date

23 July 2008

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11 January 2020

European Journal of Human Genetics

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11 January 2020

16

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11 January 2020

12

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11 January 2020

1459-1466

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11 January 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.134

0 references

The genetic aspects of neurofibromatosis

1 reference

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

1 reference

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Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors

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21 January 2018

The neurofibromatosis type 1 gene encodes a protein related to GAP

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

The human L-pipecolic acid oxidase is similar to bacterial monomeric sarcosine oxidases rather than D-amino acid oxidases.

1 reference

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21 January 2018

Yeast two-hybrid screens imply that GGNBP1, GGNBP2 and OAZ3 are potential interaction partners of testicular germ cell-specific protein GGN1

1 reference

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21 January 2018

Molecular cloning and characterization of LCRG1 a novel gene localized to the tumor suppressor locus D17S800-D17S930.

1 reference

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21 January 2018

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

1 reference

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21 January 2018

Germline KRAS mutations cause Noonan syndrome

1 reference

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21 January 2018

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

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%2FEJHG.2008.134

21 January 2018

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

Knockout mouse model for Fxr2: a model for mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

7 January 2021

based on heuristic

inferred from DOI database lookup

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

7 January 2021

based on heuristic

inferred from DOI database lookup

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.134

7 January 2021

based on heuristic

inferred from DOI database lookup

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