Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene (Q33682450)

28 July 2017

title

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene (English)

1 reference

28 July 2017

Upadhyaya M

1

1 reference

28 July 2017

Maynard J

2

1 reference

28 July 2017

Osborn M

3

1 reference

28 July 2017

Huson SM

4

1 reference

28 July 2017

Ponder M

5

1 reference

28 July 2017

Ponder BA

6

1 reference

28 July 2017

Harper PS

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

9

1 reference

28 July 2017

page(s)

706-710

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051671

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the 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=1051671

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=1051671

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=1051671

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=1051671

The neurofibromatosis type 1 gene encodes a protein related to GAP

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051671

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051671

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=1051671

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (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=1051671

Recurrence of a nonsense mutation in the NF1 gene causing classical 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=1051671

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=1051671

Analysis of mutations at the neurofibromatosis 1 (NF1) 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=1051671

Identification and characterization of sporadic and inherited mutations in exon 31 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=1051671

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051671

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=1051671

A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 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=1051671

Mechanisms of insertional mutagenesis in human genes causing genetic disease

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

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

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 de novo nonsense mutation in exon 28 of 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

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

1 reference

12 December 2020

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese

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

Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

12 December 2020

Screening for truncated NF1 proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

12 December 2020

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.9.706

1 reference

28 July 2017

1 reference

28 July 2017

1 reference