(Q36930011)

17 August 2017

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

1 reference

17 August 2017

18

J P Dumanski

1 reference

17 August 2017

K K Mantripragada

1

1 reference

17 August 2017

A-C Thuresson

2

1 reference

17 August 2017

A Piotrowski

3

1 reference

17 August 2017

T Díaz de Ståhl

4

1 reference

17 August 2017

U Menzel

5

1 reference

17 August 2017

G Grigelionis

6

1 reference

17 August 2017

R E Ferner

7

1 reference

17 August 2017

S Griffiths

8

1 reference

17 August 2017

L Bolund

9

1 reference

17 August 2017

V Mautner

10

1 reference

17 August 2017

M Nordling

11

1 reference

17 August 2017

E Legius

12

1 reference

17 August 2017

D Vetrie

13

1 reference

17 August 2017

N Dahl

14

1 reference

17 August 2017

L Messiaen

15

1 reference

17 August 2017

M Upadhyaya

16

1 reference

17 August 2017

C E G Bruder

17

1 reference

17 August 2017

language of work or name

English

0 references

publication date

8 June 2005

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

43

1 reference

17 August 2017

1

1 reference

17 August 2017

28-38

1 reference

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Genomic microarrays in the spotlight

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Elevated risk for MPNST in NF1 microdeletion patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Do NF1 gene deletions result in a characteristic phenotype?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

A 90 kb DNA deletion associated with neurofibromatosis type 1.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Genomic organization and evolution of the NF1 microdeletion region.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564500

Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci

20 October 2018

1 reference

12 December 2020

Recombination hotspot in NF1 microdeletion patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

12 December 2020

Alterations at chromosome 17 loci in peripheral nerve sheath tumors

1 reference

12 December 2020

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

1 reference

12 December 2020

High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.033795

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

15944227

1 reference