Germ-line mosaicism in tuberous sclerosis: how common? (Q34389302)

1 August 2017

Germ-line mosaicism in tuberous sclerosis: how common? (English)

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1 August 2017

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V M Rose

1

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1 August 2017

K S Au

2

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1 August 2017

G Pollom

3

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1 August 2017

E S Roach

4

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1 August 2017

H R Prashner

5

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1 August 2017

H Northrup

6

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1 August 2017

language of work or name

English

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publication date

1 April 1999

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1 August 2017

7

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American Journal of Human Genetics

inferred from page(s)

published in

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1 August 2017

64

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1 August 2017

4

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1 August 2017

986-992

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Differential amplification kinetics for point mutation analysis by PCR.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Variability of expression in tuberous sclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Identification and characterization of the tuberous sclerosis gene on chromosome 16

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Recurrence risk for germinal mosaics revisited

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Genetic aspects of tuberous sclerosis in the west of Scotland

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377822

Inheritance of tuberous sclerosis

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10090883

12 December 2020

inferred from PubMed ID database lookup

Epidemiology of tuberous sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10090883

12 December 2020

inferred from PubMed ID database lookup

Somatic mosaicism and clinical variation in tuberous sclerosis complex

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10090883

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/302322

1 reference

1 August 2017

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1 August 2017

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