(Q35431845)

8 August 2017

A clinical study of type 1 neurofibromatosis in north west England (English)

1 reference

8 August 2017

10

1 reference

8 August 2017

McGaughran JM

1

1 reference

8 August 2017

Harris DI

2

1 reference

8 August 2017

Donnai D

3

1 reference

8 August 2017

Teare D

4

1 reference

8 August 2017

MacLeod R

5

1 reference

8 August 2017

Westerbeek R

6

1 reference

8 August 2017

Kingston H

7

1 reference

8 August 2017

Super M

8

1 reference

8 August 2017

Harris R

9

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 March 1999

1 reference

Journal of Medical Genetics

8 August 2017

1 reference

8 August 2017

36

1 reference

8 August 2017

3

1 reference

8 August 2017

197-203

1 reference

Molecular genetics of neurofibromatosis type 1 (NF1)

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Specific learning disability in children with neurofibromatosis type 1: significance of MRI abnormalities.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Optic glioma of childhood. Natural history and rationale for conservative management

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Isolated optic nerve gliomas in children with and without neurofibromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Genetic linkage studies with neurofibromatosis: the question of heterogeneity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Neurofibrosarcoma as a complication of von Recklinghausen neurofibromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Recent developments in the diagnosis and management of neurofibromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Definitive radiation therapy in the management of symptomatic patients with optic glioma. Survival and long-term effects.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Lisch nodules in neurofibromatosis type 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Penetrance and variability in neurofibromatosis: a genetic study of 60 families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734324

Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes

26 September 2018

1 reference

12 December 2020

Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata

1 reference

12 December 2020

Neurofibromatosis. A clinical and genetic study of 96 cases in Gothenburg, Sweden

1 reference

12 December 2020

Iris (Lisch) nodules in neurofibromatosis

1 reference

12 December 2020

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1 reference

12 December 2020

Optic gliomas in children with neurofibromatosis type 1

1 reference

12 December 2020

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene

1 reference

12 December 2020

Identifiers

PMCID

1734324

1 reference

8 August 2017

1 reference