(Q35151748)

6 August 2017

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. (English)

1 reference

6 August 2017

1 reference

7

Yolanda Benavente

1 reference

6 August 2017

10

Ignacio Blanco

1 reference

Hildegard Kehrer-Sawatzki

6 August 2017

11

object named as

Hildegard Kehrer-Sawatzki

1 reference

6 August 2017

Carles Garcia-Linares

1

1 reference

6 August 2017

Juana Fernández-Rodríguez

2

1 reference

6 August 2017

Ernest Terribas

3

1 reference

6 August 2017

Jaume Mercadé

4

1 reference

6 August 2017

Eva Pros

5

1 reference

6 August 2017

Llúcia Benito

6

1 reference

6 August 2017

Gabriel Capellà

8

1 reference

6 August 2017

Anna Ravella

9

1 reference

6 August 2017

Conxi Lázaro

12

1 reference

6 August 2017

Eduard Serra

13

1 reference

6 August 2017

1 January 2011

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6 August 2017

1 reference

6 August 2017

32

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6 August 2017

1

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6 August 2017

78-90

1 reference

Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Comparative analysis of copy number variation in primate genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Molecular processes of chromosome 9p21 deletions causing inactivation of the p16 tumor suppressor gene in human cancer: deduction from structural analysis of breakpoints for deletions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Role of homologous recombination in carcinogenesis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Interindividual variation in mitotic recombination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Loss of heterozygosity analysis using whole genome amplification, cell sorting, and fluorescence-based PCR.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

A simple salting out procedure for extracting DNA from human nucleated cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Chromosome 5 allele loss in human colorectal carcinomas.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Penetrance and variability in neurofibromatosis: a genetic study of 60 families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

16 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3151547

Culture of cytogenetically abnormal schwann cells from benign and malignant NF1 tumors

16 November 2018

1 reference

12 December 2020

Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study group

1 reference

12 December 2020

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

1 reference

12 December 2020

Semiautomated quantitative detection of loss of heterozygosity in the tumor suppressor gene p53

1 reference

12 December 2020

Alterations of microsatellites in neurofibromas of von Recklinghausen's disease

1 reference

12 December 2020

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

12 December 2020

Analysis of chromosomal imbalances in sporadic and NF1-associated peripheral nerve sheath tumors by comparative genomic hybridization

1 reference

12 December 2020

Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma

1 reference

12 December 2020

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

12 December 2020

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

1 reference

12 December 2020

Germline and somatic NF1 gene mutations in plexiform neurofibromas

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21387

1 reference

6 August 2017

1 reference

6 August 2017

1 reference