Molecular diagnosis of neurofibromatosis type 1: 2 years experience (Q40292451)

19 September 2017

Molecular diagnosis of neurofibromatosis type 1: 2 years experience (English)

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19 September 2017

Ian Frayling

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author name string

Siân Griffiths

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1

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PubMed ID

16944272

19 September 2017

Peter Thompson

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2

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PubMed ID

16944272

19 September 2017

Meena Upadhyaya

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4

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19 September 2017

1 January 2007

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6

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1

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19 September 2017

21-34

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https://scigraph.springernature.com/pub.10.1007/s10689-006-9001-3

19 September 2017

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cites work

Preimplantation diagnosis for neurofibromatosis.

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12 December 2020

Detection of NF1 mutations utilizing the protein truncation test (PTT).

1 reference

12 December 2020

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

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12 December 2020

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

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12 December 2020

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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12 December 2020

Preimplantation genetic diagnosis for neurofibromatosis type 1

1 reference

12 December 2020

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

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12 December 2020

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

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12 December 2020

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

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12 December 2020

Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers

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12 December 2020

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

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12 December 2020

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

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12 December 2020

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

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12 December 2020

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

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12 December 2020

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

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12 December 2020

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

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12 December 2020

Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells

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12 December 2020

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

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12 December 2020

Expression of NF1 pseudogenes

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12 December 2020

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)

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12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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12 December 2020

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

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12 December 2020

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

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12 December 2020

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Six novel mutations in the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

NF1 tumor suppressor gene function: narrowing the GAP

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12 December 2020

Methylation analysis of the neurofibromatosis type 1 (NF1) promoter in peripheral nerve sheath tumours.

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12 December 2020

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

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12 December 2020

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

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12 December 2020

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

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12 December 2020

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

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12 December 2020

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours

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12 December 2020

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1

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12 December 2020

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

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12 December 2020

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

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12 December 2020

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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12 December 2020

Prenatal diagnosis of sporadic neurofibromatosis 1

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12 December 2020

Germline mutations in NF1 patients with malignancies

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12 December 2020

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

1 reference

12 December 2020

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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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

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12 December 2020

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

1 reference

12 December 2020

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

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12 December 2020

Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.

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12 December 2020

Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene

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12 December 2020

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

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12 December 2020

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

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12 December 2020

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

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12 December 2020

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

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12 December 2020

No aberrant methylation of neurofibromatosis 1 gene (NF1) promoter in pilocytic astrocytoma in childhood.

1 reference

12 December 2020

10.1007/S10689-006-9001-3

Identifiers

DOI

1 reference

19 September 2017

1 reference

PubMed ID

16944272