A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling (Q30495391)

6 October 2017

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

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6 October 2017

1

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6 October 2017

S M Huson

2

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6 October 2017

D Donnai

3

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6 October 2017

W Neary

4

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6 October 2017

V Blair

5

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6 October 2017

V Newton

6

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6 October 2017

T Strachan

7

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6 October 2017

R Harris

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6 October 2017

language of work or name

English

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publication date

1 December 1992

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Journal of Medical Genetics

6 October 2017

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6 October 2017

29

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6 October 2017

12

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6 October 2017

847-852

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Acoustic neuroma in the last months of pregnancy.

6 October 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

Ophthalmic manifestations of neurofibromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

Bilateral cerebellopontine angle tumors in neurofibromatosis type 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

Bilateral retinal hamartomas in neurofibromatosis type 2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016199

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

20 June 2018

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12 December 2020

Neurofibromatosis type 1 with bilateral acoustic neuromas

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12 December 2020

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

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12 December 2020

Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules

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12 December 2020

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

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12 December 2020

Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment

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12 December 2020

Lisch nodules in neurofibromatosis type 2. Case report

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12 December 2020

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

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12 December 2020

Occurrence of both neurofibromatoses 1 and 2 in the same individual with a rapidly progressive course

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12 December 2020

Identifiers

DOI

10.1136/JMG.29.12.847

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6 October 2017

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6 October 2017

PubMed publication ID

1479599

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