(Q58033502)

10

object named as

Katarzyna Kotulska

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author name string

Piotr Kozlowski

1

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Penelope Roberts

2

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Sandra Dabora

3

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David Franz

4

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John Bissler

5

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Hope Northrup

6

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Kit Sing Au

7

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Ross Lazarus

8

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Dorota Domanska-Pakiela

9

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David J. Kwiatkowski

https://scigraph.springernature.com/pub.10.1007/s00439-006-0308-9

12

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publication date

8 February 2007

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published in

Human Genetics

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volume

121

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page(s)

389-400

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issue

3-4

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exact match

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cites work

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-006-0308-9

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 January 2018

1 reference

12 December 2020

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios

1 reference

12 December 2020

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

1 reference

12 December 2020

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

1 reference

12 December 2020

Renal disease in adults with TSC2/PKD1 contiguous gene syndrome.

1 reference

12 December 2020

MaskerAid: a performance enhancement to RepeatMasker

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

PKD1 intron 21: triplex DNA formation and effect on replication

1 reference

12 December 2020

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

1 reference

12 December 2020

Epidemiology of tuberous sclerosis

1 reference

12 December 2020

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

1 reference

12 December 2020

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

1 reference

12 December 2020

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

1 reference

12 December 2020

On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions

1 reference

12 December 2020

Genomic rearrangements in the BRCA1 and BRCA2 genes.

1 reference

12 December 2020

Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes

1 reference

12 December 2020

A fine-scale map of recombination rates and hotspots across the human genome

1 reference

12 December 2020

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

12 December 2020

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

1 reference

12 December 2020