(Q34982028)

5 August 2017

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title

Genetics of neurofibromatosis 1 and the NF1 gene (English)

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5 August 2017

David Viskochil

1

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5 August 2017

publication date

1 August 2002

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Journal of Child Neurology

5 August 2017

published in

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5 August 2017

volume

17

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5 August 2017

issue

8

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5 August 2017

page(s)

562-70; discussion 571-2, 646-51

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Neurofibromatosis 1: clinical manifestations and diagnostic criteria

5 August 2017

cites work

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https://api.crossref.org/works/10.1177%2F088307380201700804

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Do NF1 gene deletions result in a characteristic phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Deletion of the entire NF1 gene causing distinct manifestations in a family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307380201700804

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307380201700804

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Familial café au lait spots: a variant of neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Hereditary spinal neurofibromatosis: a rare form of NF1?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

The oligodendrocyte-myelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

The OMgp gene, a second growth suppressor within the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Identification and characterization of NF1 -related loci on human chromosomes 22, 14 and 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700804

10.1177/088307380201700804

21 January 2018

Identifiers

DOI

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