A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. (Q50855771)

24 March 2018

title

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. (English)

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24 March 2018

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R van Minkelen

1

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24 March 2018

Y van Bever

2

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J N R Kromosoeto

3

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C J Withagen-Hermans

4

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A Nieuwlaat

5

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D J J Halley

6

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A M W van den Ouweland

7

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publication date

25 June 2013

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24 March 2018

published in

Clinical Genetics

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volume

85

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issue

4

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page(s)

318-327

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RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

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A highly sensitive genetic protocol to detect NF1 mutations

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Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.

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Identifiers

DOI

10.1111/CGE.12187

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24 March 2018

PubMed ID

23656349

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24 March 2018