(Q36483309)

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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

based on heuristic

inferred from title

David N. Cooper

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Nadia Chuzhanova

object named as

Nadia Chuzhanova

2

0 references

author name string

Adila Alkindy

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Usha Kini

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Meena Upadhyaya

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

publication date

13 August 2012

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

12

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Neurofibromatosis type 1: diagnosis and recent advances

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Histopathology of gastrointestinal stromal tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Genetic and pathogenetic aspects of Noonan syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Clinical and genetic aspects of neurofibromatosis 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Neurofibromatosis type 1 associated with pheochromocytoma: a case report and a review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Overview of recent advances in molecular cardiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

NF1 tumor suppressor gene function: narrowing the GAP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Familial neurofibromatosis and hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

30 September 2017

RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

28 June 2018

Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

28 June 2018

Soft tissue sarcomas and central nervous system tumors in children with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

21 September 2018

Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

21 September 2018

The role of steroid hormones in the NF1 phenotype: focus on pregnancy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

21 September 2018

Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

21 September 2018

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

21 September 2018

The heart in neurofibromatosis type 1: an echocardiographic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

21 September 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

21 September 2018

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-12

21 January 2018

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3528442

4 December 2018

National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal presentation of neurofibromatosis and Noonan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypertrophic myocardiopathy and von Recklinghausen's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac findings in an individual with neurofibromatosis 1 and sudden death

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney

1 reference

https://pubmed.ncbi.nlm.nih.gov/23244495

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1479-7364-6-12

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

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