SCOPUS 정보 검색 플랫폼

Volumn 59, Issue 4, 1996, Pages 847-854

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: Analysis of four FRAXE families with mild mental retardation in males

(10) Biancalana, V a Taine, L b Bouix, J C b Finck, S b Chauvin, A b De Verneuil, H b Knight, S J L b Stoll, C a Lacombe, D b Mandel, J L b

a UNIVERSITÉ DE STRASBOURG (France)

b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME FRAGILE SITE; CLINICAL ARTICLE; CYTOGENETICS; DNA METHYLATION; FAMILY STUDY; FEMALE; FRAGILE X SYNDROME; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; CHROMOSOME FRAGILE SITES; CHROMOSOME FRAGILITY; DEOXYRIBONUCLEASE ECORI; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PROTEINS; RNA-BINDING PROTEINS; TRANS-ACTIVATORS;

EID: 19244363055 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (24)

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
- 0030027566
- A candidate gene for mild mental handicap at the FRAXE fragile site
- Chakrabarti L, Knight SJL, Flannery AV, Davies KE (1996) A candidate gene for mild mental handicap at the FRAXE fragile site. Hum Mol Genet 5:275-282
- (1996) Hum Mol Genet , vol.5 , pp. 275-282
- Chakrabarti, L.¹ Knight, S.J.L.² Flannery, A.V.³ Davies, K.E.⁴

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 NR, Curtis G, Macpherson JN, Jacobs PA (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.R.¹ Curtis, G.² Macpherson, J.N.³ Jacobs, P.A.⁴

4
- 0027522796
- Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
- Flynn GA, Hirst MC, Knight SJ, Macpherson JN, Barber JC, 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 30:97-100
- (1993) J Med Genet , vol.30 , pp. 97-100
- Flynn, G.A.¹ Hirst, M.C.² Knight, S.J.³ Macpherson, J.N.⁴ Barber, J.C.⁵ Flannery, A.V.⁶ Davies, K.E.⁷

5
- 0030137717
- Identification of the gene FMR2, associated with FRAXE mental retardation
- Gecz J, Gedeon AK, Sutherland GR, Mulley JC (1996) Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 13:105-108
- (1996) Nat Genet , vol.13 , pp. 105-108
- Gecz, J.¹ Gedeon, A.K.² Sutherland, G.R.³ Mulley, J.C.⁴

6
- 0030138905
- Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
- Gu Y, Shen Y, Gibbs RA, Nelson DL (1996) Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 13:109-113
- (1996) Nat Genet , vol.13 , pp. 109-113
- Gu, Y.¹ Shen, Y.² Gibbs, R.A.³ Nelson, D.L.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.