Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease (original) (raw)
Gomez, M.R. Tuberous sclerosis edn 2 (Raven Press, New York, 1988). Google Scholar
Wiederholt, W.C., Gomez, M.R. & Kurland, L.T. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology35, 600–603 (1985). ArticleCASPubMed Google Scholar
Santos, C.C. & Kandt, R.S. Recent advances in neurocutaneous syndromes. Curr. Opin Pediatr.2, 1075–1082 (1990). Google Scholar
Fryer, A.E. et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet1, 659–661 (1987). ArticleCASPubMed Google Scholar
Connor, J.M., Pirrit, L.A., Yates, J.R.W., Fryer, A.E. & Ferguson-Smith, M.A. Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl. J. med. Genet.24, 544–546 (1987). ArticleCASPubMedPubMed Central Google Scholar
Northrup, H. et al. Linkage of tuberous sclerosis to ABO blood group. Lancet2, 804–805 (1987). ArticleCASPubMed Google Scholar
Kandt, R.S. et al. Absence of linkage of ABO blood group locus to familial tuberous sclerosis. Exp. Neurol.104, 223–228 (1989). ArticleCASPubMed Google Scholar
Povey, S. et al. Genetic recombination between tuberous sclerosis and oncogene v-abl. Lancet2, 279–280 (1988). ArticleCASPubMed Google Scholar
Smith, M. et al. Mapping of a gene determining tuberous sclerosis to human chromosome 11 q14-11q23. Genomics6, 105–114 (1990). ArticleCASPubMed Google Scholar
Haines, J.L. et al. Genetic heterogeneity in tuberous sclerosis: study of a large collaborative dataset. Ann. N. Y. Acad. Sci.615, 256–264 (1991). ArticleCASPubMed Google Scholar
Janssen, L.A. et al. A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23. Ann. N. Y. Acad. Sci.615, 306–315 (1991). ArticleCASPubMed Google Scholar
Povey, S. et al. An attempt to map two genes for tuberous sclerosis using novel two-point methods. Ann. N. Y. Acad. Sci.615, 298–305 (1991). ArticleCASPubMed Google Scholar
Kandt, R.S. et al. Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14. Ann. N. Y. Acad. Sci.615, 284–297 (1991). ArticleCASPubMed Google Scholar
Janssen, L.A. et al. Genetic heterogeneity in tuberous sclerosis. Genomics8, 237–242 (1990). ArticleCASPubMed Google Scholar
Haines, J.L. et al. Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am. J. hum. Genet.49, 764–772 (1991). CASPubMedPubMed Central Google Scholar
Povey, S. et al. Report on the first international workshop on chromosome 9 held at Girton College, Cambridge, UK, March 22–24, 1992. Ann. hum. Genet. (in the press).
Burley, M.W., Attwood, J., Kwiatkowski, D. & Povey, S. The search for TSCI on chromosome 9q34. Abstract 6. Ann. hum. Genet. (in the press).
Fahsold, R., Rott, H.D. & Lorenz, P. A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus. Hum. Genet.88, 85–90 (1991). ArticleCASPubMed Google Scholar
Haines, J.L. et al. Linkage analysis in tuberous sclerosis: further localization on chromosome 9 and search for other TSC genes. Abstract 18. Ann. hum. Genet. (in the press).
Kandt, R.S. et al. Linkage studies in tuberous sclerosis. Abstract 29. Ann. hum. Genet. (in the press).
Harris, P.C. et al. Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet338, 1484–1487 (1991). ArticleCASPubMed Google Scholar
Shepherd, C.W., Gomez, M.R., Lie, J.T. & Crowson, C.S. Causes of death in patients with tuberous sclerosis. Mayo Clin. Proc.66, 792–796 (1991). ArticleCASPubMed Google Scholar
Stapleton, F.B., Johnson, D., Kaplan, G.W. & Griswold, W. The cystic renal lesion in tuberous sclerosis. J. Pediatr.97, 574–579 (1980). ArticleCASPubMed Google Scholar
Bernstein, J., Brough, A.J. & McAdams, A.J. The renal lesion in syndromes of multiple congenital malformations: cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. Birth Defects: Original Article Series10, 35–43 (1974). CAS Google Scholar
Richards, R.I. & Sutherland, G.R. Heritable unstable DNA sequences. Nature Genet.1, 7–9 (1992). ArticleCASPubMed Google Scholar
Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature355, 545–546 (1992). ArticleCASPubMed Google Scholar
Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature355, 547–548 (1992). ArticleCASPubMed Google Scholar
Aslanidis, C. et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature355, 548–551 (1992). ArticleCASPubMed Google Scholar
Oberle, I. et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science252, 1097–1102 (1991). ArticleCASPubMed Google Scholar
La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature352, 77–79 (1991). ArticleCASPubMed Google Scholar
Germino, G.G. et al. The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics13, 144–151 (1992). ArticleCASPubMed Google Scholar
Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can by typed using the polymerase chain reaction. Am. J. hum. Genet.44, 388–396 (1989). CASPubMedPubMed Central Google Scholar
Kwiatkowski, D.J. et al. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am. J. hum. Genet.48, 121–128 (1991). CASPubMedPubMed Central Google Scholar
Kwiatkowski, D.J. et al. Construction of a GT polymorphism map of human 9q. Genomics12, 229–240 (1992). ArticleCASPubMed Google Scholar
Wedemeyer, N., Dworniczak, B. & Horst, J. PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res.19, 1959 (1991). ArticleCASPubMedPubMed Central Google Scholar
Dworniczak, B., Wedemeyer, N., Eigel, A. & Horst, J. PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res.19, 1958 (1991). PubMedPubMed Central Google Scholar
Dworniczak, B., Wedemeyer, N. & Horst, J. PCR detection of the BgIII RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res.19, 1958 (1991). PubMedPubMed Central Google Scholar
Glebel, L.B. & Spritz, R.A. RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucl. Acids Res.18, 3103 (1990). Google Scholar
Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. hum. Genet.36, 460–465 (1984). CASPubMedPubMed Central Google Scholar
Conneally, P.M., et al. Report of the committee on methods of linkage analysis and reporting. HGM8. Cytogenet. Cell Genet.40, 356–359 (1985). ArticleCASPubMed Google Scholar
Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. hum. Genet.37, 482–498 (1985). CASPubMedPubMed Central Google Scholar
Haines, J.L. et al. Heterogeneity in tuberous sclerosis: localization of TSC1 to 9q34 and linkage analysis with 11q and 14 markers. Cytogenet. Cell Genet.58, 1939–1940 (1991). Google Scholar