(Q54766315)

3 June 2018

title

Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. (English)

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3 June 2018

author

Jan Dumański

5

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3 June 2018

author name string

Kiran K Mantripragada

1

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3 June 2018

Patrick G Buckley

2

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Caroline Jarbo

3

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Uwe Menzel

4

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3 June 2018

publication date

27 June 2003

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3 June 2018

Journal of Molecular Medicine

published in

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3 June 2018

volume

81

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3 June 2018

issue

7

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3 June 2018

page(s)

443-451

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3 June 2018

Mutational analysis of patients with neurofibromatosis 2

cites work

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The detection of large deletions or duplications in genomic DNA.

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Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene

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A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

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NF2 gene in neurofibromatosis type 2 patients.

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Evaluation of clinical diagnostic criteria for neurofibromatosis 2

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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease

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12 December 2020

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

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Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

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The DNA sequence of human chromosome 22

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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

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A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

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12 December 2020

Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis

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12 December 2020

Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?

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12 December 2020

Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.

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12 December 2020

Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes

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12 December 2020

Screening for germ-line mutations in the NF2 gene

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Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).

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A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

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Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations

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12 December 2020

10.1007/S00109-003-0458-3

Identifiers

DOI

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3 June 2018

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3 June 2018