(Q33681371)

28 July 2017

title

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients (English)

1 reference

28 July 2017

Park VM

1

1 reference

28 July 2017

Pivnick EK

series ordinal

2

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1998

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

35

1 reference

28 July 2017

issue

10

1 reference

28 July 2017

page(s)

813-820

1 reference

Bony orbital morphology in neurofibromatosis type 1 (NF1)

28 July 2017

cites work

1 reference

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Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

21 June 2018

1 reference

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RNA processing and clinical variability in neurofibromatosis type I (NF1)

21 June 2018

1 reference

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A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

21 June 2018

1 reference

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The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

21 June 2018

1 reference

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A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors

21 June 2018

1 reference

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Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Molecular genetics of neurofibromatosis type 1 (NF1)

21 June 2018

1 reference

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Defects in RNA splicing and the consequence of shortened translational reading frames

21 June 2018

1 reference

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Long RT-PCR of the entire 8.5-kb NF1 open reading frame and mutation detection on agarose gels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

BRCA2 mutations in primary breast and ovarian cancers

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity

21 June 2018

1 reference

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Clinical and genetic patterns of neurofibromatosis 1 and 2.

21 June 2018

1 reference

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Myotonic dystrophy reviewed: back to the future?

21 June 2018

1 reference

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Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

21 June 2018

1 reference

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Diverse mutations in patients with Menkes disease often lead to exon skipping

21 June 2018

1 reference

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Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Neurofibromatosis and hypertelorism

21 June 2018

1 reference

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Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

21 June 2018

1 reference

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

21 June 2018

1 reference

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Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

21 June 2018

1 reference

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Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

30 October 2018

1 reference

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Molecular diagnosis of familial adenomatous polyposis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Genomic organization of the neurofibromatosis 1 gene (NF1).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051455

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

30 October 2018

1 reference

12 December 2020

Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels

1 reference

12 December 2020

Rapid detection of BRCA1 mutations by the protein truncation test

1 reference

12 December 2020

On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1

1 reference

12 December 2020

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

1 reference

12 December 2020

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms

1 reference

12 December 2020

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene

1 reference

12 December 2020

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.10.813

1 reference

28 July 2017

1 reference

28 July 2017

1 reference