Literature DB >> 131859

A probable case of mutation in Huntington's disease.

E Chiu, C J Brackenridge.   

Abstract

A patient is described in whom Huntington's disease was diagnosed at the age of 34 years. No evidence of the disorder was found in either parent. Their parentage of the alleged mutant could not be excluded from a study of the inheritance of 25 genetic markers.

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Year:  1976        PMID： 131859      PMCID： PMC1013358          DOI： 10.1136/jmg.13.1.75

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


  11 in total

1.  CRANIOSYNOSTOSIS: A SURVEY OF 204 CASES.

Authors:  F M ANDERSON; L GEIGER
Journal:  J Neurosurg       Date:  1965-03       Impact factor: 5.115

2.  Trigonocephaly. Identity and surgical treatment.

Authors:  F M ANDERSON; J L GWINN; J C TODT
Journal:  J Neurosurg       Date:  1962-09       Impact factor: 5.115

3.  Huntington's chorea in Michigan. 2. Selection and mutation.

Authors:  T E REED; J V NEEL
Journal:  Am J Hum Genet       Date:  1959-06       Impact factor: 11.025

4.  Orbital hypotelorism, arhinencephaly, and trigonocephaly.

Authors:  G CURRARINO; F N SILVERMAN
Journal:  Radiology       Date:  1960-02       Impact factor: 11.105

5.  Mutation in Huntington's chorea.

Authors:  D Stevens; M Parsonage
Journal:  J Neurol Neurosurg Psychiatry       Date:  1969-04       Impact factor: 10.154

6.  [Chronic progressive chorea in 2 sisters without detectable heredity].

Authors:  S Haugerud
Journal:  Schweiz Med Wochenschr       Date:  1968-12-21

Review 7.  Craniosynostosis. Review of the literature and indications for surgery.

Authors:  H Andersson; S P Gomes
Journal:  Acta Paediatr Scand       Date:  1968-01

8.  [Trigonocephaly].

Authors:  H Vogelsang
Journal:  Z Kinderheilkd       Date:  1966

9.  Craniosynostosis: a review of 519 surgical patients.

Authors:  J Shillito; D D Matson
Journal:  Pediatrics       Date:  1968-04       Impact factor: 7.124

10.  Estimation of the age at onset of Huntington's disease from factors associated with the affected parent.

Authors:  C J Brackenridge; B Teltscher
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318
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  1 in total

1.  New mutation to Huntington's disease.

Authors:  G Wolff; G Deuschl; T F Wienker; K Hummel; K Bender; C H Lücking; M Schumacher; J Hammer; G Oepen
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318
  1 in total

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