Literature DB >> 3081725

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

S M Huson, A L Meredith, M Sarfarazi, D J Shaw, D A Compston, P S Harper.   

Abstract

Three chromosome 19 markers known to be linked to myotonic dystrophy have been studied in nine families with peripheral neurofibromatosis (Von Recklinghausen's disease). Clear evidence against linkage has been found for all three markers, excluding the peripheral neurofibromatosis gene from the myotonic dystrophy region of chromosome 19. Previous reports of co-inheritance of the two disorders in families cannot therefore be explained on the basis of close genetic linkage between the loci.

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Year:  1986        PMID： 3081725      PMCID： PMC1049542          DOI： 10.1136/jmg.23.1.55

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


  7 in total

1.  Neurofibromatosis: variable expression is not intrinsic to the mutant gene.

Authors:  V M Riccardi; B Kleiner; M L Lubs
Journal:  Birth Defects Orig Artic Ser       Date:  1979

2.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

Review 3.  Von Recklinghausen neurofibromatosis.

Authors:  V M Riccardi
Journal:  N Engl J Med       Date:  1981-12-31       Impact factor: 91.245

Review 4.  Neurofibromatosis: clinical heterogeneity.

Authors:  V M Riccardi
Journal:  Curr Probl Cancer       Date:  1982-08       Impact factor: 3.187

5.  Genetic linkage between the loci for myotonic dystrophy and peptidase D.

Authors:  T O'Brien; S Ball; M Sarfarazi; P S Harper; E B Robson
Journal:  Ann Hum Genet       Date:  1983-05       Impact factor: 1.670

6.  Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.

Authors:  K E Davies; J Jackson; R Williamson; P S Harper; S Ball; M Sarfarazi; L Meredith; G Fey
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

7.  Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.

Authors:  K Ichikawa; C J Crosley; A Culebras; L Weitkamp
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318
  7 in total
  7 in total

1.  Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A.

Authors:  N L Rosenberg; J H Diliberti; A M Andrews; N R Buist
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-12       Impact factor: 10.154

2.  A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

Authors:  S M Huson; D A Compston; P Clark; P S Harper
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

3.  An exclusion map for Von Recklinghausen neurofibromatosis.

Authors:  M Sarfarazi; S M Huson; J H Edwards
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

4.  Linkage analysis of British and Indian families with Von Recklinghausen neurofibromatosis.

Authors:  C G Mathew; K Thorpe; D F Easton; C Carter; C Wallis; Z Wong; A J Jeffreys; B A Ponder
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

5.  Further exclusion data for the Von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers.

Authors:  M Upadhyaya; M Sarfarazi; S M Huson; P S Harper
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

Review 6.  A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.

Authors:  S M Huson; D A Compston; P S Harper
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

Review 7.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132
  7 in total

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