Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1) (Q57263718)

Hildegard Kehrer-Sawatzki

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object named as

Hildegard Kehrer-Sawatzki

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Ludwine Messiaen

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object named as

Ludwine Messiaen

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author name string

Julia Vogt

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Kathrin Bengesser

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Chuanhua Fu

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Fady Mikhail

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Carles Garcia-Linares

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Conxi Lazaro

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

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publication date

28 January 2011

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published in

Human Mutation

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volume

32

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issue

2

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page(s)

213-219

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Genomic organization and evolution of the NF1 microdeletion region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Somatic gene mutation and human disease other than cancer: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Monozygotic twins discordant for neurofibromatosis 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Segmental neurofibromatosis follows blaschko's lines or dermatomes depending on the cell line affected: case report and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Mechanisms and consequences of somatic mosaicism in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Somatic mosaicism and variable expressivity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Segmental neurofibromatosis: is it uncommon or underdiagnosed?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Segmental neurofibromatosis in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21418

7 January 2021