(Q30495392)

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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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Europe PubMed Central

PMC publication ID

6 October 2017

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

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

1

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Europe PubMed Central

PMC publication ID

6 October 2017

author name string

S M Huson

2

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

D Donnai

3

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

W Neary

4

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

V Blair

5

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

D Teare

6

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

V Newton

7

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

T Strachan

8

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

R Ramsden

9

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

R Harris

10

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

language of work or name

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publication date

1 December 1992

1 reference

Europe PubMed Central

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6 October 2017

Journal of Medical Genetics

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Europe PubMed Central

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6 October 2017

29

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Europe PubMed Central

PMC publication ID

6 October 2017

12

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

841-846

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

Von Recklinghausen neurofibromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Hereditary bilateral acoustic neuroma (central neurofibromatosis)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Bilateral acoustic tumors and neurofibromatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

A new simplified method for estimating relative fitness in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Central neurofibromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Acoustic neuroma surgery: the results of hearing conservation surgery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Genomic imprinting: review and relevance to human diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Von Hippel-Lindau disease: a genetic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

20 June 2018

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016198

28 July 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1479598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of relative fitness in human abnormalities with sex difference in selection intensity: a new simplified method

1 reference

https://pubmed.ncbi.nlm.nih.gov/1479598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1479598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/1479598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/1479598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

1 reference

https://pubmed.ncbi.nlm.nih.gov/1479598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial central nervous system neoplasia. Case report of a family with von Recklinghausen's neurofibromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1479598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.29.12.841

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

release_2fyowgbj5nculen2s6kwwlzhxm

1 reference

https://api.fatcat.wiki/v0/release/2fyowgbj5nculen2s6kwwlzhxm

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

6 October 2017

ResearchGate publication ID

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