(Q34315709)

1 August 2017

title

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

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1 August 2017

4

Angela Bentivegna

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1 August 2017

5

Lucia Corrado

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1 August 2017

Marco Venturin

1

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1 August 2017

Cristina Gervasini

2

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1 August 2017

Francesca Orzan

3

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1 August 2017

Patrizia Colapietro

6

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1 August 2017

Alessandra Friso

7

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1 August 2017

Romano Tenconi

8

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1 August 2017

Meena Upadhyaya

9

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1 August 2017

Lidia Larizza

10

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1 August 2017

Paola Riva

11

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1 August 2017

language of work or name

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21 April 2004

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1 August 2017

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1 August 2017

volume

115

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1 August 2017

issue

1

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1 August 2017

page(s)

69-80

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1101-2

1 August 2017

exact match

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cites work

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

1 reference

12 December 2020

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

1 reference

12 December 2020

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

12 December 2020

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

1 reference

12 December 2020

A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).

1 reference

12 December 2020

Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type

1 reference

12 December 2020

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

1 reference

12 December 2020

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

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12 December 2020

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions

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12 December 2020

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

1 reference

12 December 2020

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

1 reference

12 December 2020

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Human bleomycin hydrolase: molecular cloning, sequencing, functional expression, and enzymatic characterization

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

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

1 reference

12 December 2020

Another critical region for deletion of 22q11: a study of 100 patients.

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel 22q11.2 microdeletion in DiGeorge syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

YAC mapping by FISH using Alu-PCR-generated probes

1 reference

12 December 2020

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

1 reference

12 December 2020

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

12 December 2020

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

12 December 2020

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.

1 reference

12 December 2020

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

12 December 2020

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

12 December 2020

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

1 reference

12 December 2020

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

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12 December 2020

Recombination hotspot in NF1 microdeletion patients

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12 December 2020

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

12 December 2020

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

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12 December 2020

10.1007/S00439-004-1101-2

Identifiers

DOI

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Dimensions Publication ID

1 August 2017

1038964811

0 references

1 reference