(Q34389755)

1 August 2017

High rate of mosaicism in tuberous sclerosis complex (English)

1 reference

1 August 2017

1 reference

1 reference

6

Jozwiak S

1 reference

1 August 2017

Verhoef S

1

1 reference

1 August 2017

Bakker L

2

1 reference

1 August 2017

Tempelaars AM

3

1 reference

1 August 2017

Hesseling-Janssen AL

4

1 reference

1 August 2017

Mazurczak T

5

1 reference

1 August 2017

Fois A

7

1 reference

1 August 2017

Bartalini G

8

1 reference

1 August 2017

Zonnenberg BA

9

1 reference

1 August 2017

van Essen AJ

10

1 reference

1 August 2017

Lindhout D

11

1 reference

1 August 2017

Halley DJ

12

1 reference

1 August 2017

van den Ouweland AM

13

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 June 1999

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

64

1 reference

1 August 2017

1632-1637

1 reference

1 August 2017

6

1 reference

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377905

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377905

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377905

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=1377905

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=1377905

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=1377905

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=1377905

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=1377905

Reduced penetrance in tuberous sclerosis

6 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377905

6 July 2018

12 December 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377905

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=1377905

Tuberous sclerosis in two sibs of normal 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=1377905

Non-penetrance 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=1377905

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=1377905

Mosaicism in sporadic neurofibromatosis 2 patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377905

Penetrance and variability in tuberous sclerosis

27 October 2018

1 reference

12 December 2020

Non-penetrance in tuberous sclerosis

1 reference

12 December 2020

GENETICS OF TUBEROUS SCLEROSIS

1 reference

12 December 2020

Somatic mosaicism and clinical variation in tuberous sclerosis complex

1 reference

12 December 2020

A novel splice site mutation (156 + 1G-->A) in the TSC2 gene

1 reference

12 December 2020

Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/302412

1 reference

1 August 2017

1 reference

1 August 2017

1 reference