The genetic basis of tuberous sclerosis. (Q51991180)

19 April 2018

review article

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title

The genetic basis of tuberous sclerosis. (English)

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19 April 2018

author name string

Young J

series ordinal

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19 April 2018

Povey S

series ordinal

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19 April 2018

publication date

1 July 1998

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19 April 2018

Trends in Molecular Medicine

published in

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19 April 2018

volume

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19 April 2018

issue

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19 April 2018

page(s)

313-319

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19 April 2018

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

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Variability of expression in tuberous sclerosis

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Phenotypic variation of tuberous sclerosis in a single extended kindred

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7 January 2021

Genetic aspects of tuberous sclerosis in the west of Scotland

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Epidemiology of tuberous sclerosis

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Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis

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7 January 2021

Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

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7 January 2021

Identification and characterization of the tuberous sclerosis gene on chromosome 16

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7 January 2021

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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7 January 2021

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish

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7 January 2021

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog

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7 January 2021

cDNA structure, alternative splicing and exon—intron organization of the predisposing tuberous scelerosis (Tsc2) gene of the Eker rat model

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7 January 2021

Expression and differential splicing of the mouse TSC2 homolog.

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7 January 2021

Autosomal dominant polycystic kidney disease: molecular analysis.

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Dynamic molecular combing: stretching the whole human genome for high-resolution studies.

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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

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7 January 2021

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

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7 January 2021

Somatic mosaicism and clinical variation in tuberous sclerosis complex

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7 January 2021

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients

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7 January 2021

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

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7 January 2021

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

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7 January 2021

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7 January 2021

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

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7 January 2021

A Dominant Gene for Renal Adenomas in the Rat

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7 January 2021

A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer

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7 January 2021

Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene

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7 January 2021

Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene

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7 January 2021

Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region

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7 January 2021

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

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7 January 2021

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

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7 January 2021

Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase

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7 January 2021

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

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7 January 2021

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

1 reference

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7 January 2021

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

1 reference

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7 January 2021

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

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7 January 2021

Mutation and cancer: statistical study of retinoblastoma

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7 January 2021

Loss of heterozygosity in tuberous sclerosis hamartomas.

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2898%2901245-3

7 January 2021

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas

1 reference

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7 January 2021

Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation.

1 reference

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7 January 2021

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2898%2901245-3

7 January 2021

Non-penetrance in tuberous sclerosis

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7 January 2021

10.1016/S1357-4310(98)01245-3

Identifiers

DOI

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19 April 2018

1 reference

19 April 2018