SCOPUS 정보 검색 플랫폼

Volumn 58, Issue 5, 1996, Pages 906-913

A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom

(11) Knight, S J L b Ritchie, R J b Chakrabarti, L b Cross, G b Taylor, G R b Mueller, R F b Hurst, J b Paterson, J b Yates, J R W b Dow, D J b Davies, K E a

a JOHN RADCLIFFE HOSPITAL (United Kingdom)

b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; FRAGILE X SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL; SOUTHERN BLOTTING; UNITED KINGDOM;

BASE SEQUENCE; CHROMOSOME FRAGILE SITES; CHROMOSOME FRAGILITY; ENGLAND; FEMALE; FRAGILE X SYNDROME; HUMANS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; X CHROMOSOME;

EID: 19144367362 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (45)

References (6)

1
- 0029029547
- FRAXE expansion is not a common etiological factor among developmentally delayed males
- Allingham-Hawkins DJ, Ray PN (1995) FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet 57:72-76
- (1995) Am J Hum Genet , vol.57 , pp. 72-76
- Allingham-Hawkins, D.J.¹ Ray, P.N.²

2
- 0025472887
- The fragile X: Progress toward solving the puzzle
- Brown WT (1990) The fragile X: progress toward solving the puzzle. Am J Hum Genet 47:175-180
- (1990) Am J Hum Genet , vol.47 , pp. 175-180
- Brown, W.T.¹

3
- 0026777140
- Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment and absence of the Martin-Bell phenotype
- Dennis N, Curtis G, MacPherson J, Jacobs P, Heitz D (1992) Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment and absence of the Martin-Bell phenotype. Am J Med Genet 43:232-236
- (1992) Am J Med Genet , vol.43 , pp. 232-236
- Dennis, N.¹ Curtis, G.² MacPherson, J.³ Jacobs, P.⁴ Heitz, D.⁵

4
- 19144365669
- A fragile site at Xq27-28 located distal to FRAXE and found in a normal male
- Donnelly J, Pinder L, Smith N, Walker A, Guilbert PR, Raeburn JA, Hirst MC, et al (1994) A fragile site at Xq27-28 located distal to FRAXE and found in a normal male. J Med Genet 31:173
- (1994) J Med Genet , vol.31 , pp. 173
- Donnelly, J.¹ Pinder, L.² Smith, N.³ Walker, A.⁴ Guilbert, P.R.⁵ Raeburn, J.A.⁶ Hirst, M.C.⁷

5
- 0027185655
- Hemizygosity at the elastin locus in a developmental disorder, William's syndrome
- Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, et al (1993) Hemizygosity at the elastin locus in a developmental disorder, William's syndrome. Nat Genet 5:11-16
- (1993) Nat Genet , vol.5 , pp. 11-16
- Ewart, A.K.¹ Morris, C.A.² Atkinson, D.³ Jin, W.⁴ Sternes, K.⁵ Spallone, P.⁶ Stock, A.D.⁷

6
- 0027522796
- Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
- Flynn GA, Hirst MC, Knight SJL, MacPherson JN, Barber JCK, Flannery AV, Davies KE, et al (1993) Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet 30:97-103
- (1993) J Med Genet , vol.30 , pp. 97-103
- Flynn, G.A.¹ Hirst, M.C.² Knight, S.J.L.³ MacPherson, J.N.⁴ Barber, J.C.K.⁵ Flannery, A.V.⁶ Davies, K.E.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.