A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling (Q30495406)

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30 September 2019

review article

1 reference

title

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

1 reference

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30 September 2019

author name string

S M Huson

series ordinal

1

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30 September 2019

D A Compston

series ordinal

2

1 reference

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30 September 2019

P S Harper

series ordinal

3

1 reference

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30 September 2019

language of work or name

English

0 references

publication date

1 November 1989

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Journal of Medical Genetics

30 September 2019

published in

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30 September 2019

volume

26

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30 September 2019

issue

11

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30 September 2019

page(s)

712-721

1 reference

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Café-au-lait spots in schoolchildren

30 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015741

Congenital pseudarthrosis of the tibia

20 June 2018

1 reference

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von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata.

20 June 2018

1 reference

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Von Recklinghausen's disease: a clinicopathological study.

20 June 2018

1 reference

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Gliomas in neurofibromatosis: a series of 89 cases with evidence for enhanced malignancy in associated cerebellar astrocytomas.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015741

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=1015741

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=1015741

Iris hamartomata as diagnostic criterion in 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=1015741

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

20 June 2018

1 reference

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Duodenal carcinoid tumours, phaeochromocytoma and neurofibromatosis: islet cell tumour, phaeochromocytoma and the von Hippel-Lindau complex: two distinctive neuroendocrine syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015741

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission 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=1015741

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015741

Phaeochromocytomas in 72 patients: Clinical and diagnostic features, treatment and long term results

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015741

Pulsating enophthalmos and choroidal hamartomas: two rare stigmata 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=1015741

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015741

Malignancy in 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=1015741

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

26 November 2018

1 reference

12 December 2020

Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata

1 reference

12 December 2020

Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis

1 reference

12 December 2020

Prevalence of congenital-nevus-like nevi, nevi spili, and café au lait spots

1 reference

12 December 2020

Iris (Lisch) nodules in neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis in children with soft tissue sarcoma

1 reference

12 December 2020

Neurofibromatous scoliosis. Natural history and results of treatment in thirty-seven cases

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.26.11.712

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2511319%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2511319%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

1 reference