SCOPUS 정보 검색 플랫폼

Neuromuscular Disorders

Volumn 5, Issue 2, 1995, Pages 157-159

Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

(5) Novelli, G a Gennarelli, M b Menegazzo, E c Angelini, C d Dallapiccola, B b

a CATHOLIC UNIVERSITY (Italy)

b UNIVERSITY OF ROME TOR VERGATA (Italy)

c UNIVERSITY OF PADOVA (Italy)

d NONE

Author keywords

anticipation; CTG repeat size; Myotonic dystrophy

Indexed keywords

TRINUCLEOTIDE;

ARTICLE; CLINICAL ARTICLE; FAMILY STUDY; HUMAN; LYMPHOCYTE; MYOTONIC DYSTROPHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RELATIVE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; DNA; FEMALE; GENOTYPE; HUMAN; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOTONIC DYSTROPHY; PEDIGREE; PHENOTYPE; REPETITIVE SEQUENCES, NUCLEIC ACID; SUPPORT, NON-U.S. GOV'T;

EID: 0028951662 PISSN: 09608966 EISSN: None Source Type: Journal
DOI: 10.1016/0960-8966(94)00044-A Document Type: Article

Times cited : (26)

References (16)

1
- 0003740896
- 2nd Edn., Saunders, London
- (1989) Myotonic Dystrophy
- Harper¹

2
- 0023757514
- Neonatal myotonic dystrophy
- Suppl
- (1988) Aust Paediatr J , pp. 74-76
- Cunningham¹ Procopis²

3
- 0026885037
- Anticipation in myotonic dystrophy: new light on an old problem
- (1992) Am J Hum Genet , vol.51 , pp. 10-16
- Harper¹ Harley² Reardon³ Shaw⁴

4
- 0026601924
- Expansion of an unstable DNA region and phenotype variation in myotonic dystrophy
- (1992) Nature , vol.355 , pp. 545-546
- Harley¹ Brook² Rundle³

5
- 0026584805
- Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
- (1992) Nature , vol.355 , pp. 548-551
- Buxton¹ Shelbourne² Davies³

6
- 0026598119
- An unstable triplet repeat in a gene related to myotonic muscular dystrophy, myotonin protein kinase
- (1992) Science , vol.255 , pp. 1256-1258
- Fu¹ Pizzuti² Fenwick³

7
- 0026523591
- Unstable DNA sequence in myotonic dystrophy
- (1992) Lancet , vol.339 , pp. 1125-1128
- Harley¹ Rundle² Reardon³

8
- 0026879229
- Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
- (1992) Nature Genet , vol.1 , pp. 192-195
- Tsilfidis¹ macKenzie² Mettler³ Barcelò⁴ Korneluk⁵

9
- 0027170671
- (CTG) triplet mutation and phenotype manifestations in myotonic dystrophy patients
- (1993) Biochem Med Metab Biol , vol.50 , pp. 85-92
- Novelli¹ Gennarelli² Menegazzo³

10
- 0027366978
- Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
- (1993) Am J Hum Genet , vol.52 , pp. 875-883
- Lavedan¹ Hofmann-Radvanyi² Shelbourne³

11
- 0027257735
- Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
- (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
- Anvret¹ Åhlberg² Grandell³ Hedberg⁴ Johnson⁵ Edström⁶

12
- 0027244811
- Direct molecular diagnosis of myotonic dystrophy
- (1993) Clin Genet , vol.43 , pp. 276-285
- Hecht¹ Donnelly² Gedeon³

13
- 0027716510
- Somatic instability of CTG repeat in myotonic dystrophy
- (1993) Neurology , vol.43 , pp. 2674-2678
- Ashizawa¹ Dubel² Harati³

14
- 0028120131
- Myotonic dystrophy reviewed back to the future?
- (1994) Human Molecular Genetics , vol.3 , pp. 1-7
- Wieringa¹

15
- 0027158785
- Sex-related difference in intergenerational expansion of myotonic dystrophy gene
- (1993) Lancet , vol.341 , pp. 1159-1160
- Cobo¹ Baiget² Lopez³

16
- 0028013626
- Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
- (1994) Am J Hum Genet , vol.54 , pp. 414-423
- Ashizawa¹ Anvret² Baiget³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.