(Q50855771)

24 March 2018

title

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

1 reference

24 March 2018

0 references

R van Minkelen

1

1 reference

24 March 2018

Y van Bever

2

1 reference

24 March 2018

J N R Kromosoeto

3

1 reference

24 March 2018

C J Withagen-Hermans

4

1 reference

24 March 2018

A Nieuwlaat

5

1 reference

24 March 2018

D J J Halley

6

1 reference

24 March 2018

A M W van den Ouweland

7

1 reference

24 March 2018

publication date

25 June 2013

1 reference

24 March 2018

published in

Clinical Genetics

1 reference

24 March 2018

volume

85

1 reference

24 March 2018

issue

4

1 reference

24 March 2018

page(s)

318-327

1 reference

24 March 2018

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

cites work

1 reference

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

1 reference

Clinical and genetic aspects of neurofibromatosis 1.

21 January 2018

1 reference

Clinical manifestations and management of neurofibromatosis type 1.

21 January 2018

1 reference

Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors

21 January 2018

1 reference

Neurofibromin: a general outlook

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

21 January 2018

1 reference

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

21 January 2018

1 reference

21 January 2018

Neurofibromatosis Type 1

1 reference

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex

21 January 2018

1 reference

LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

21 January 2018

1 reference

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

21 January 2018

1 reference

Review and update of SPRED1 mutations causing Legius syndrome

21 January 2018

1 reference

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

21 January 2018

1 reference

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.

21 January 2018

1 reference

A highly sensitive genetic protocol to detect NF1 mutations

21 January 2018

1 reference

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

21 January 2018

1 reference

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

21 January 2018

1 reference

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

21 January 2018

1 reference

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?

21 January 2018

1 reference

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1.

21 January 2018

1 reference

Ophthalmic manifestations of neurofibromatosis

21 January 2018

1 reference

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

21 January 2018

1 reference

Epilepsy in neurofibromatosis 1.

21 January 2018

1 reference

Height assessments in children with neurofibromatosis type 1.

21 January 2018

1 reference

Scoliosis associated with neurofibromatosis

21 January 2018

1 reference

Speech disorders in neurofibromatosis type 1: a sample survey.

21 January 2018

1 reference

Behavioural and cognitive phenotypes in children with neurofibromatosis type 1 (NF1): the link with the neurobiological level

21 January 2018

1 reference

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

21 January 2018

1 reference

Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies

21 January 2018

1 reference

Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.

21 January 2018

1 reference

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

21 January 2018

1 reference

Neurofibromatosis 1: Analysis of the demand for prenatal diagnosis in a French cohort of 361 patients

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12187

1 reference

24 March 2018

PubMed ID

23656349

1 reference

24 March 2018