High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene (Q24533576)

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

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scholarly article

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

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author name string

H Kehrer-Sawatzki

1

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L Kluwe

2

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C Sandig

3

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M Kohn

4

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K Wimmer

5

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U Krammer

6

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A Peyrl

7

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D E Jenne

8

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I Hansmann

9

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V-F Mautner

10

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language of work or name

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publication date

September 2004

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American Journal of Human Genetics

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75

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3

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410-23

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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

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24 March 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

24 March 2017

Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

24 March 2017

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

24 March 2017

Translin binding to DNA: recruitment through DNA ends and consequent conformational transitions

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

24 March 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

24 March 2017

Genome architecture, rearrangements and genomic disorders

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

7 April 2017

Long-term potentiation--a decade of progress?

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

7 April 2017

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Molecular mechanisms for genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Long-term potentiation in mice lacking the neural cell adhesion molecule L1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

The amygdala and emotion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Recent developments in the diagnosis and management of neurofibromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

27 September 2017

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

30 May 2018

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

30 May 2018

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

29 November 2018

Deletion of the entire NF1 gene causing distinct manifestations in a family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

29 November 2018

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182020

29 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamic expression pattern of the myc protooncogene in midgestation mouse embryos

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Yeast ARMs (DNA at-risk motifs) can reveal sources of genome instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/15257518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_chojkce6tfdehjx7j2b7akbv54

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https://api.fatcat.wiki/v0/release/chojkce6tfdehjx7j2b7akbv54

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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