Literature DB >> 8386250

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

M Nellist1, P T Brook-Carter, J M Connor, D J Kwiatkowski, P Johnson, J R Sampson.   

Abstract

Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase.

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Year:  1993        PMID： 8386250      PMCID： PMC1016304          DOI： 10.1136/jmg.30.3.224

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  16 in total

1.  CA repeat polymorphism at the ASS locus.

Authors:  M A Yuille; R M Hampson; R M Harris; N A Affara; J R Yates; M A Ferguson-Smith
Journal:  Nucleic Acids Res       Date:  1990-12-25       Impact factor: 16.971

2.  Dinucleotide repeat polymorphism at the GSN locus (9q32-34).

Authors:  D J Kwiatkowski; S Perman
Journal:  Nucleic Acids Res       Date:  1991-02-25       Impact factor: 16.971

3.  Dinucleotide repeat polymorphism at the ABL locus (9q34).

Authors:  D J Kwiatkowski
Journal:  Nucleic Acids Res       Date:  1991-02-25       Impact factor: 16.971

4.  A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23.

Authors:  L A Janssen; S Povey; J Attwood; L A Sandkuyl; D Lindhout; P Flodman; M Smith; J R Sampson; J L Haines; E C Merkens
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

5.  An attempt to map two genes for tuberous sclerosis using novel two-point methods.

Authors:  S Povey; J Attwood; L A Janssen; M Burley; M Smith; P Flodman; N E Morton; J H Edwards; J R Sampson; J R Yates
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

6.  Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?

Authors:  P Daish; M J Hardman; M A Lamont
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

7.  Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions.

Authors:  F Yamamoto; S Hakomori
Journal:  J Biol Chem       Date:  1990-11-05       Impact factor: 5.157

8.  Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset.

Authors:  J L Haines; J Amos; J Attwood; N T Bech-Hansen; M Burley; P M Conneally; J M Connor; R Fahsold; P Flodman; A Fryer
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

9.  Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis.

Authors:  P H Johnson; D A Hopkinson
Journal:  Hum Mol Genet       Date:  1992-08       Impact factor: 6.150

10.  Genetic heterogeneity in tuberous sclerosis.

Authors:  L A Janssen; L A Sandkuyl; E C Merkens; J A Maat-Kievit; J R Sampson; P Fleury; R C Hennekam; G C Grosveld; D Lindhout; D J Halley
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736
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  8 in total

1.  Autism in tuberous sclerosis complex.

Authors:  G C Gutierrez; S L Smalley; P E Tanguay
Journal:  J Autism Dev Disord       Date:  1998-04

2.  Report of a critical recombination further narrowing the TSC1 region.

Authors:  K S Au; J Murrell; A Buckler; S H Blanton; H Northrup
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

3.  Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.

Authors:  Martin W Laass; Miriam Spiegel; Anna Jauch; Gabriele Hahn; Edgar Rupprecht; Christian Vogelberg; Oliver Bartsch; Angela Huebner
Journal:  Pediatr Nephrol       Date:  2004-03-09       Impact factor: 3.714

4.  A cross sectional study of renal involvement in tuberous sclerosis.

Authors:  J A Cook; K Oliver; R F Mueller; J Sampson
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

Review 5.  Presymptomatic testing for genetic diseases of later life. Pharmacoepidemiological considerations.

Authors:  B J Rossiter; C T Caskey
Journal:  Drugs Aging       Date:  1995-08       Impact factor: 3.923

6.  Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

Authors:  B Peral; J L San Millán; A C Ong; V Gamble; C J Ward; C Strong; P C Harris
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

7.  Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

Authors:  J R Sampson; A Patel; A D Mee
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

8.  Phenotypic variation of tuberous sclerosis in a single extended kindred.

Authors:  S L Smalley; F Burger; M Smith
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318
  8 in total

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