Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

[1]  P. Crino,et al.  The tuberous sclerosis complex. , 2006, The New England journal of medicine.

[2]  Luca Tiano,et al.  A novel Real Time PCR strategy to detect SOD3 SNP using LNA probes. , 2009, Mutation research.

[3]  A. V. D. van den Ouweland,et al.  Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex , 2008, BMC Medical Genetics.

[4]  R. Lazarus,et al.  Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations , 2007, Human Genetics.

[5]  J. Wheless,et al.  Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States , 2007, Genetics in Medicine.

[6]  A. V. D. van den Ouweland,et al.  Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. , 2005, Genetic testing.

[7]  M. Schwartz,et al.  Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long‐range PCR sequencing, and report of 28 novel mutations , 2005, Human mutation.

[8]  A. Ouweland,et al.  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 , 2005, European Journal of Human Genetics.

[9]  S. Girimaji,et al.  Identification of a core promoter and a novel isoform of the human TSC1 gene transcript and structural comparison with mouse homolog. , 2003, Gene.

[10]  A. Jauch,et al.  TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios , 2002, European Journal of Pediatrics.

[11]  S. Polidoro,et al.  TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene , 2001, Human Genetics.

[12]  D. Kwiatkowski,et al.  Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. , 2001, Journal of biochemical and biophysical methods.

[13]  A. V. D. van den Ouweland,et al.  Characterisation of six large deletions in TSC 2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination , 2000 .

[14]  J. Cheadle,et al.  Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis , 2000, Human Genetics.

[15]  K. Mayer,et al.  Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects , 1999, Human mutation.

[16]  A. Green,et al.  Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). , 1997, Human molecular genetics.

[17]  S Povey,et al.  Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. , 1997, Science.

[18]  B. Scheithauer,et al.  Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. , 1996, American journal of human genetics.

[19]  A. Ouweland,et al.  Somatic mosaicism and clinical variation in tuberous sclerosis complex , 1995, The Lancet.

[20]  J. Hughes,et al.  Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome , 1994, Nature Genetics.

[21]  S. Thomas,et al.  Identification and characterization of the tuberous sclerosis gene on chromosome 16 , 1993, Cell.

[22]  A. Ouweland,et al.  A reliable cell-based assay for testing unclassified TSC2 gene variants , 2009, European Journal of Human Genetics.

[23]  A. Ouweland,et al.  Missense mutations to the TSC1 gene cause tuberous sclerosis complex , 2009, European Journal of Human Genetics.

[24]  J. Adolfsson,et al.  Detecting homozygous deletions in the CDKN2A(p16(INK4a))/ARF(p14(ARF)) gene in urinary bladder cancer using real-time quantitative PCR. , 2003, Clinical cancer research : an official journal of the American Association for Cancer Research.

[25]  D. Kwiatkowski,et al.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. , 2001, American journal of human genetics.

[26]  R. Ekong,et al.  Bmc Medical Genetics Identification of a Region Required for Tsc1 Stability by Functional Analysis of Tsc1 Missense Mutations Found in Individuals with Tuberous Sclerosis Complex , 2022 .