Tuberous sclerosis complex

Dabora SL et al. (2002) Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Webb DW et al. (1991) Non-penetrance in tuberous sclerosis.

None (1971) Mutation and cancer: statistical study of retinoblastoma.

Kumar A et al. (1995) A de novo frame-shift mutation in the tuberin gene.

Verhoef S et al. (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex.

Vrtel R et al. (1996) Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

Dabora SL et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Khare L et al. (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

Martin N et al. (2003) Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.

Crino PB et al. (2006) The tuberous sclerosis complex.

Jansen AC et al. (2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

Au KS et al. (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Liang N et al. (2014) Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.

Povey S et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

van Slegtenhorst M et al. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Ali JB et al. (1998) Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Kwiatkowska J et al. (1998) Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

Uhlmann EJ et al. (2002) Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

Uhlmann EJ et al. (2002) Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.

Sancak O et al. (2005) 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.

Zeng LH et al. (2008) Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

Wilson J et al. (1978) Genetics of tuberose sclerosis.

Sybert VP et al. (1979) Inheritance of tuberous sclerosis.

Rushton AR et al. (1979) Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.

McWilliam RC et al. (1978) Depigmented hair. The earliest sign of tuberous sclerosis.

Martin GI et al. (1976) Computer-assisted cranial tomography in early diagnosis of tuberous sclerosis.

O'Callaghan TJ et al. (1975) Tuberous sclerosis with striking renal involvement in a family.

Northrup H et al. (1992) Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Sampson JR et al. (1992) Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

Janssen LA et al. (1992) Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

Sampson JR et al. (1992) Pitted enamel hypoplasia in tuberous sclerosis.

Webb DW et al. (1992) Echocardiography and genetic counselling in tuberous sclerosis.

Fahsold R et al. (1991) Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3).

Haines JL et al. (1991) Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

Janssen LA et al. (1990) Genetic heterogeneity in tuberous sclerosis.

Rott HD et al. (1991) Tuberous sclerosis in two sibs of normal parents.

Fryer AE et al. (1990) The value of investigation for genetic counselling in tuberous sclerosis.

Harding CO et al. (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma.

Smith M et al. (1990) Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

Winship IM et al. (1990) Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.

van Baal JG et al. (1989) Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects.

Sampson JR et al. (1989) Evidence for genetic heterogeneity in tuberous sclerosis.

Grether P et al. (1987) Wilms' tumor in an infant with tuberous sclerosis.

Fryer AE et al. (1987) Evidence that the gene for tuberous sclerosis is on chromosome 9.

Hall JG et al. (1987) Genetics of tuberous sclerosis.

Northrup H et al. (1987) Linkage of tuberous sclerosis to ABO blood group.

Connor JM et al. (1987) Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.

None (1987) Tuberous sclerosis and ABO.

Povey S et al. (1988) Genetic recombination between tuberous sclerosis and oncogene v-abl.

Sampson JR et al. (1989) Genetic aspects of tuberous sclerosis in the west of Scotland.

Smith HC et al. (1989) Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.

Scappaticci S et al. (1988) Chromosome abnormalities in tuberous sclerosis.

de León GA et al. (1988) Olfactory hamartomas in tuberous sclerosis.

Connor JM et al. (1987) Tuberous sclerosis: analysis of linkage to red cell and plasma protein markers.

Journel H et al. () Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound.

Fryer AE et al. (1987) Forehead plaque: a presenting skin sign in tuberous sclerosis.

Lygidakis NA et al. (1987) Pitted enamel hypoplasia in tuberous sclerosis patients and first-degree relatives.

Baraitser M et al. (1985) Reduced penetrance in tuberous sclerosis.

Kandt RS et al. (1985) Tuberous sclerosis with cardiogenic cerebral embolism: magnetic resonance imaging.

Sugita K et al. (1985) Tuberous sclerosis: report of two cases studied by computer-assisted cranial tomography within one week after birth.

Fitzpatrick TB et al. (1968) White leaf-shaped macules. Earliest visible sign of tuberous sclerosis.

Dwyer JM et al. (1971) Pulmonary tuberous sclerosis. Report of three patients and a review of the literature.

Larbre F et al. (1971) [Clinical and anatomical case of an aortic aneurysm in the course of Bourneville's tuberous sclerosis].

Lagos JC et al. (1967) Tuberous sclerosis: reappraisal of a clinical entity.

Bundey S et al. (1969) Tuberous sclerosis: a genetic study.

Bundey S et al. (1970) Tuberose sclerosis without adenoma sebaceum.

Freycon F et al. (1971) [Abdominal aorta aneurysm during Bourneville's tuberous sclerosis].

Nevin NC et al. (1968) Diagnostic and genetical aspects of tuberous sclerosis.

Anderson D et al. (1969) Tuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease.

None (1969) Tuberous sclerosis. Extensive roentgen findings without the usual clinical picture: a case report.

Milledge RD et al. (1966) Pulmonary manifestations of tuberous sclerosis.

Bender BL et al. (1981) Splenic involvement in tuberous sclerosis. Report of three cases.

Hunt A et al. (1984) Tuberous sclerosis: a new estimate of prevalence within the Oxford region.

Cassidy SB et al. (1983) Family studies in tuberous sclerosis. evaluation of apparently unaffected parents.

Rattan PK et al. (1983) Tuberous sclerosis in pregnancy.

Grasso S et al. (1982) Unusual liver lesion in tuberous sclerosis.

Gomez MR et al. (1982) Tuberous sclerosis, early onset of seizures, and mental subnormality: study of discordant homozygous twins.

Stapleton FB et al. (1980) The cystic renal lesion in tuberous sclerosis.

Schwartz PL et al. (1980) Tuberous sclerosis associated with a retinal angioma.

Webb D et al. (1994) Pitted enamel hypoplasia in tuberous sclerosis.

Pascual-Castroviejo I et al. (1995) Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors.

Sampson JR et al. (1995) Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

McGrae JD et al. (1996) Unilateral facial angiofibromas--a segmental form of tuberous sclerosis.

Webb DW et al. (1996) The cutaneous features of tuberous sclerosis: a population study.

Cook JA et al. (1996) A cross sectional study of renal involvement in tuberous sclerosis.

Au KS et al. (1996) Report of a critical recombination further narrowing the TSC1 region.

Bosi G et al. (1996) The natural history of cardiac rhabdomyoma with and without tuberous sclerosis.

Ruggieri M et al. (1997) Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.

Flanagan N et al. (1997) Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?

Van Tassel P et al. (1997) Cystlike white matter lesions in tuberous sclerosis.

O'Callaghan FJ et al. (1998) Tuberous sclerosis complex and Wolff-Parkinson-White syndrome.

Griffiths PD et al. (1998) White matter abnormalities in tuberous sclerosis complex.

Verhoef S et al. (1999) High rate of mosaicism in tuberous sclerosis complex.

O'Callaghan FJ et al. (2000) Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex.

Rott HD et al. (2002) Cyst-like cerebral lesions in tuberous sclerosis.

SCHULL WJ et al. (1953) Neurocutaneous syndromes in the M kindred; a case of simultaneous occurrence of tuberous sclerosis an neurofibromatosis.

DE LA CRUZ FF et al. (1962) Tuberous sclerosis: a review and report of eight cases.

MARSHALL D et al. (1959) Tuberous sclerosis: a report of 16 cases in two family trees revealing genetic dominance.

None (1961) [Tuberous sclerosis (report of Yugoslav cases)].

NICKEL WR et al. (1962) Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas.

SCHEIG RL et al. (1961) Tuberous sclerosis in the adult. An unusual case without mental deficiency or epilepsy.

Lewis JC et al. (2004) Genotype and psychological phenotype in tuberous sclerosis.

Humphrey A et al. (2004) Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits.

None (2005) TSC1, TSC2, TSC3? Or mosaicism?

Shields JA et al. (2005) Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex.

Jansen FE et al. (2008) Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

Curatolo P et al. (2008) Tuberous sclerosis.

de Vries PJ et al. (2009) Neuropsychological attention deficits in tuberous sclerosis complex (TSC).

Chu-Shore CJ et al. (2009) Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.

Muzykewicz DA et al. (2009) TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.

McMaster ML et al. (2011) Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.

Brackley KJ et al. (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation.

Roberts PS et al. (2002) SNP identification, haplotype analysis, and parental origin of mutations in TSC2.