(Q33680835)

28 July 2017

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. (English)

1 reference

28 July 2017

S A Rasmussen

1

1 reference

28 July 2017

S D Colman

2

1 reference

28 July 2017

V T Ho

3

1 reference

28 July 2017

C R Abernathy

4

1 reference

28 July 2017

P H Arn

5

1 reference

28 July 2017

L Weiss

6

1 reference

28 July 2017

C Schwartz

7

1 reference

28 July 2017

R A Saul

8

1 reference

28 July 2017

M R Wallace

9

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1998

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

35

1 reference

28 July 2017

468-471

1 reference

28 July 2017

6

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Molecular genetics of neurofibromatosis type 1 (NF1)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Somatic mosaicism in a patient with neurofibromatosis type 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

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=1051340

Gene structure, DNA methylation, and imprinted expression of the human SNRPN 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=1051340

Characterisation of germline mutations in 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=1051340

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

An RsaI polymorphism in the transcribed region of the neurofibromatosis (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=1051340

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=1051340

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Contiguous gene syndromes: a component of recognizable syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Direct construction of a chromosome-specific NotI linking library from flow-sorted chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Refined physical and genetic mapping of the NF1 region on chromosome 17

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

A 90 kb DNA deletion associated with neurofibromatosis type 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

A multiplex-PCR test for EVI2A and EVI2B polymorphisms within the human NF1 gene.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

A compound nucleotide repeat in the neurofibromatosis (NF1) gene.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

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=1051340

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051340

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

30 October 2018

1 reference

12 December 2020

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

1 reference

12 December 2020

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

12 December 2020

DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA

1 reference

12 December 2020

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

A PCR-based test for a polymorphism within the human NF1 gene

1 reference

12 December 2020

A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

1 reference

12 December 2020

Two single base polymorphisms in introns 41 and 16 of the NF1 gene

1 reference

12 December 2020

The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization

1 reference

12 December 2020

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.6.468

1 reference

28 July 2017

1 reference

28 July 2017

1 reference