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Literature DB >> 1453422

Instability versus predictability: the molecular diagnosis of myotonic dystrophy.

G K Suthers, S M Huson, K E Davies.

Abstract

Entities: Disease

Mesh：

Year: 1992 PMID： 1453422 PMCID： PMC1016166 DOI： 10.1136/jmg.29.11.761

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

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28 in total

1. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

Authors: J Myring; A L Meredith; H G Harley; G Kohn; G Norbury; P S Harper; D J Shaw
Journal: J Med Genet Date: 1992-11 Impact factor: 6.318

2. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Authors: A R La Spada; E M Wilson; D B Lubahn; A E Harding; K H Fischbeck
Journal: Nature Date: 1991-07-04 Impact factor: 49.962

3. Genetic risks for children of women with myotonic dystrophy.

Authors: M C Koch; T Grimm; H G Harley; P S Harper
Journal: Am J Hum Genet Date: 1991-06 Impact factor: 11.025

4. Fragile-X syndrome: unique genetics of the heritable unstable element.

Authors: S Yu; J Mulley; D Loesch; G Turner; A Donnelly; A Gedeon; D Hillen; E Kremer; M Lynch; M Pritchard
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

5. Anticipation in myotonic dystrophy: new light on an old problem.

Authors: P S Harper; H G Harley; W Reardon; D J Shaw
Journal: Am J Hum Genet Date: 1992-07 Impact factor: 11.025

6. An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Authors: Y H Fu; A Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; T Ashizawa; P de Jong
Journal: Science Date: 1992-03-06 Impact factor: 47.728

7. Myotonic dystrophy. Predictive value of normal results on clinical examination.

Authors: H G Brunner; H J Smeets; W Nillesen; B A van Oost; J B van den Biezenbos; E M Joosten; A J Pinckers; B C Hamel; A G Theeuwes; B Wieringa
Journal: Brain Date: 1991-10 Impact factor: 13.501

8. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

Authors: Y H Fu; D P Kuhl; A Pizzuti; M Pieretti; J S Sutcliffe; S Richards; A J Verkerk; J J Holden; R G Fenwick; S T Warren
Journal: Cell Date: 1991-12-20 Impact factor: 41.582

9. Minimal expression of myotonic dystrophy: a clinical and molecular analysis.

Authors: W Reardon; H G Harley; J D Brook; S A Rundle; S Crow; P S Harper; D J Shaw
Journal: J Med Genet Date: 1992-11 Impact factor: 6.318

10. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Authors: J Buxton; P Shelbourne; J Davies; C Jones; T Van Tongeren; C Aslanidis; P de Jong; G Jansen; M Anvret; B Riley
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

10 in total

1. Incorrect diagnosis of myotonic dystrophy and its potential consequences revealed by subsequent direct genetic analysis.

Authors: P R Barnes; D Hilton-Jones; G Norbury; A Roberts; S M Huson
Journal: J Neurol Neurosurg Psychiatry Date: 1994-05 Impact factor: 10.154

Review 2. The DNA laboratory and neurological practice.

Authors: A E Harding
Journal: J Neurol Neurosurg Psychiatry Date: 1993-03 Impact factor: 10.154

3. The gene for Huntington's disease.

Authors: A E Harding
Journal: BMJ Date: 1993-08-14

4. Molecular diagnosis of myotonic dystrophy.

Authors: R M Winter
Journal: J Med Genet Date: 1993-06 Impact factor: 6.318

Review 5. Clinical genetics in neurological disease.

Authors: J C MacMillan; P S Harper
Journal: J Neurol Neurosurg Psychiatry Date: 1994-01 Impact factor: 10.154

6. Diagnostic problems in congenital myotonic dystrophy.

Authors: M DiRocco; M Gennarelli; E Veneselli; M Bado; M Romanengo; M E Celle; G Cordone; C Borrone
Journal: Eur J Pediatr Date: 1996-11 Impact factor: 3.183

7. Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats.

Authors: A Goldman; M Ramsay; T Jenkins
Journal: J Med Genet Date: 1994-01 Impact factor: 6.318