(Q33594849)

28 July 2017

title

Variability of expression in tuberous sclerosis (English)

1 reference

28 July 2017

1 reference

H Northrup

1

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28 July 2017

J W Wheless

series ordinal

2

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28 July 2017

T K Bertin

series ordinal

3

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28 July 2017

R A Lewis

series ordinal

4

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28 July 2017

language of work or name

English

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publication date

1 January 1993

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

1

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28 July 2017

page(s)

41-43

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Frequency of epiloia in Northern Ireland

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Tuberous sclerosis, early onset of seizures, and mental subnormality: study of discordant homozygous twins.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Tuberous sclerosis: a new estimate of prevalence within the Oxford region.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Diagnostic and genetical aspects of tuberous sclerosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Genetic aspects of tuberous sclerosis in a Chinese population

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Tuberous sclerosis: a genetic study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Reduced penetrance in tuberous sclerosis

14 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

14 July 2018

12 December 2020

Gonadal mosaicism in pseudoachondroplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Genetic aspects of tuberous sclerosis in the west of Scotland

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Prospective evaluation of a monoclonal antibody in diagnosis of Pneumocystis carinii pneumonia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

The value of investigation for genetic counselling in tuberous sclerosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Tuberous sclerosis in two sibs of normal parents

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Non-penetrance in tuberous sclerosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Simple cyst of the kidney

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Germline mosaicism and Duchenne muscular dystrophy mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016232

Non-penetrance in tuberous sclerosis

30 October 2018

1 reference

12 December 2020

Detection of tuberous sclerosis in parents by magnetic resonance imaging

1 reference

12 December 2020

Genetics of tuberose sclerosis

1 reference

12 December 2020

Family studies in tuberous sclerosis. evaluation of apparently unaffected parents

1 reference

12 December 2020

Two half-siblings with tuberous sclerosis, polycystic kidneys and hypertension

1 reference

12 December 2020

Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.1.41

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28 July 2017

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28 July 2017

1 reference