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American Journal of Medical Genetics

Volumn 64, Issue 2, 1996, Pages 268-269

Slight instability of a FMR-1 allele over three generations in a family from the general population

(3) Abramowicz, Marc J a,b Parma, Jasmine a Cochaux, Pascale a

a FREE UNIVERSITY OF BRUSSELS (Belgium)

b ERASME HOSPITAL (Belgium)

Author keywords

FMR 1; fragile X; premutation; triplet repeat; unstable DNA

Indexed keywords

ALLELE; AMNIOCENTESIS; ARTICLE; CONTROLLED STUDY; FRAGILE X SYNDROME; GENE MUTATION; GENETIC SCREENING; GOOD LABORATORY PRACTICE; HETEROZYGOTE; HUMAN; MEIOSIS; MENTAL DEFICIENCY; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ALLELES; AMNIOCENTESIS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENOMIC IMPRINTING; HUMANS; MALE; MASS SCREENING; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0030015138 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<268::AID-AJMG6>3.0.CO;2-Q Document Type: Article

Times cited : (4)

References (5)

1
- 0028168645
- Length of uninterrupted CGG repeats determines instability in the FMR1 gene
- Eichler EE, Holden JJA, Popovich BA, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994): Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet 8:88-94.
- (1994) Nature Genet , vol.8 , pp. 88-94
- Eichler, E.E.¹ Holden, J.J.A.² Popovich, B.A.³ Reiss, A.L.⁴ Snow, K.⁵ Thibodeau, S.N.⁶ Richards, C.S.⁷ Ward, P.A.⁸ Nelson, D.L.⁹

2
- 0026345716
- Variation of the CGG repeat at the Fragile X site results in genetic instability: Resolution of the Sherman paradox
- Fu YH, Kuhl DPA, Pizutti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991): Variation of the CGG repeat at the Fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
- (1991) Cell , vol.67 , pp. 1047-1058
- Fu, Y.H.¹ Kuhl, D.P.A.² Pizutti, A.³ Pieretti, M.⁴ Sutcliffe, J.S.⁵ Richards, S.⁶ Verkerk, A.J.M.H.⁷ Holden, J.J.A.⁸ Fenwick Jr., R.G.⁹ Warren, S.T.¹⁰ Oostra, B.A.¹¹ Nelson, D.L.¹² Caskey, C.T.¹³

3
- 0028364565
- Complex gene conversion events in germline mutation at human minisatellites
- Jeffreys AJ, Tamaki K, MacLeod A, Monckton DG, Neil DL, Armour JAL (1994): Complex gene conversion events in germline mutation at human minisatellites. Nature Genet 6:136-145.
- (1994) Nature Genet , vol.6 , pp. 136-145
- Jeffreys, A.J.¹ Tamaki, K.² MacLeod, A.³ Monckton, D.G.⁴ Neil, D.L.⁵ Armour, J.A.L.⁶

4
- 0025952727
- Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
- Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, Gilgenkrantz S, Jalbert P, Voelckel MA, Oberlé I, Mandel JL (1991): Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681.
- (1991) N Engl J Med , vol.325 , pp. 1673-1681
- Rousseau, F.¹ Heitz, D.² Biancalana, V.³ Blumenfeld, S.⁴ Kretz, C.⁵ Boué, J.⁶ Tommerup, N.⁷ Van Der Hagen, C.⁸ Delozier-Blanchet, C.⁹ Croquette, M.F.¹⁰ Gilgenkrantz, S.¹¹ Jalbert, P.¹² Voelckel, M.A.¹³ Oberlé, I.¹⁴ Mandel, J.L.¹⁵

5
- 0027525069
- Analysis of a CGG sequence at the FMR-1 locus in Fragile X families and in the general population
- Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993): Analysis of a CGG sequence at the FMR-1 locus in Fragile X families and in the general population. Am J Hum Genet 53:1217-1228.
- (1993) Am J Hum Genet , vol.53 , pp. 1217-1228
- Snow, K.¹ Doud, L.K.² Hagerman, R.³ Pergolizzi, R.G.⁴ Erster, S.H.⁵ Thibodeau, S.N.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.