(Q51825997)

13 April 2018

title

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. (English)

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13 April 2018

author

David Q. Beversdorf

4

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13 April 2018

author name string

Kimberly J Moles

1

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13 April 2018

Gordon C Gowans

2

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13 April 2018

Satyanarayana Gedela

3

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13 April 2018

Arthur Yu

5

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13 April 2018

Laurie H Seaver

6

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13 April 2018

Roger A Schultz

7

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13 April 2018

Jill A Rosenfeld

8

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13 April 2018

Beth S Torchia

9

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13 April 2018

Lisa G Shaffer

10

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13 April 2018

language of work or name

English

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publication date

12 January 2012

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13 April 2018

published in

Genetics in Medicine

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13 April 2018

volume

14

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13 April 2018

issue

5

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13 April 2018

page(s)

508-514

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13 April 2018

https://scigraph.springernature.com/pub.10.1038/gim.2011.46

exact match

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

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

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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

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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

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

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NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

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Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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7 January 2021

Recombination hotspot in NF1 microdeletion patients

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https://api.crossref.org/works/10.1038%2FGIM.2011.46

7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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7 January 2021

Genomic and clinical characteristics of microduplications in chromosome 17

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7 January 2021

Identifiers

DOI

10.1038/GIM.2011.46

1 reference

13 April 2018

1 reference

13 April 2018