(Q61548983)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene (English)

1 reference

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7 January 2020

1

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7 January 2020

Marco Venturin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Paola Riva

8

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Francesca Orzan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Alessandra Friso

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Maurizio Clementi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Romano Tenconi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Lidia Larizza

7

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7 January 2020

publication date

1 February 2005

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7 January 2020

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7 January 2020

volume

85

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7 January 2020

issue

2

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7 January 2020

page(s)

273-279

1 reference

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NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

7 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Alu-associated interstitial deletions and chromosomal re-arrangement in 2 human multidrug-resistant cell lines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Variation in recombination rate across the genome: evidence and implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Homozygous hereditary C3 deficiency due to a partial gene deletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Recombination hotspot in NF1 microdeletion patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Genotype analysis of the NF1 gene in the French Canadians from the Québec population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Familial reciprocal translocation t(17;19) (q11.2;q13.2) associated with neurofibromatosis type 1, including one patient with non-Hodgkin lymphoma and an additional t(14;20) in B lymphocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

A de novo Alu insertion results in neurofibromatosis type 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Elevated risk for MPNST in NF1 microdeletion patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Neurofibromatosis type 1 growth charts.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Structural analysis of alpha-satellite DNA and centromere proteins using extended chromatin and chromosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

Analysis of 1;17 translocation breakpoints in neuroblastoma: implications for mapping of neuroblastoma genes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.10.014

10.1016/J.YGENO.2004.10.014

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15676286%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference