SCOPUS 정보 검색 플랫폼

Volumn 10, Issue 3, 2008, Pages 272-275

A single nucleotide variant in the FMR1 CGG repeat results in a "pseudodeletion" and is not associated with the fragile X syndrome phenotype

(9) Cecconi, Massimiliano a Forzano, Francesca b Rinaldi, Rosanna b Cappellacci, Sandra b Grammatico, Paola b Faravelli, Francesca a Bricarelli, Franca Dagna a Di Maria, Emilio a,c Grasso, Marina a

a GALLIERA HOSPITAL (Italy)

b SAPIENZA UNIVERSITY OF ROME (Italy)

c UNIVERSITY OF GENOA (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ARTICLE; CHROMOSOME SUBSTITUTION; DNA POLYMORPHISM; FEMALE; GENE DELETION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN ANALYSIS; SOUTHERN BLOTTING;

EID: 43749111823 PISSN: 15251578 EISSN: None Source Type: Journal
DOI: 10.2353/jmoldx.2008.070163 Document Type: Article

Times cited : (5)

References (6)

1
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- Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
- YH Fu DP Kuhl A Pizzuti M Pieretti JS Sutcliffe S Richards AJ Verkerk JJ Holden R-GJ Fenwick ST Warren Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox Cell 67 1991 1047 1058
- (1991) Cell , vol.67 , pp. 1047-1058
- Fu, YH¹ Kuhl, DP² Pizzuti, A³ Pieretti, M⁴ Sutcliffe, JS⁵ Richards, S⁶ Verkerk, AJ⁷ Holden, JJ⁸ Fenwick, R-GJ⁹ Warren, ST¹⁰

2
- 33745620225
- Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male
- XD Han BR Powell JL Phalin FF Chehab Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male Am J Med Genet A 140 2006 1463 1471
- (2006) Am J Med Genet A , vol.140 , pp. 1463-1471
- Han, XD¹ Powell, BR² Phalin, JL³ Chehab, FF⁴

3
- 0025952727
- Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
- F Rousseau D Heitz V Biancalana S Blumenfeld C Kretz J Boue N Tommerup C Van Der Hagen C DeLozier-Blanchet MF Croquette Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation N Engl J Med 325 1991 1673 1681
- (1991) N Engl J Med , vol.325 , pp. 1673-1681
- Rousseau, F¹ Heitz, D² Biancalana, V³ Blumenfeld, S⁴ Kretz, C⁵ Boue, J⁶ Tommerup, N⁷ Van Der Hagen, C⁸ DeLozier-Blanchet, C⁹ Croquette, MF¹⁰

4
- 0034252428
- Novel polymorphism in the FMR1 gene resulting in a “pseudodeletion” of FMR1 in a commonly used fragile X assay
- TM Daly A Rafii RA Martin BA Zehnbauer Novel polymorphism in the FMR1 gene resulting in a “pseudodeletion” of FMR1 in a commonly used fragile X assay J Mol Diagn 2 2000 128 131
- (2000) J Mol Diagn , vol.2 , pp. 128-131
- Daly, TM¹ Rafii, A² Martin, RA³ Zehnbauer, BA⁴

5
- 18344388280
- A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype
- J Tarleton A Kenneson AK Taylor K Crandall R Fletcher R Casey PS Hart D Hatton G Fisch ST Warren A single base alteration in the CGG repeat region of FMR1 : possible effects on gene expression and phenotype J Med Genet 39 2002 196 200
- (2002) J Med Genet , vol.39 , pp. 196-200
- Tarleton, J¹ Kenneson, A² Taylor, AK³ Crandall, K⁴ Fletcher, R⁵ Casey, R⁶ Hart, PS⁷ Hatton, D⁸ Fisch, G⁹ Warren, ST¹⁰

6
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- Fragile X syndrome: diagnostic and carrier testing
- S Sherman BA Pletcher DA Driscoll Fragile X syndrome: diagnostic and carrier testing Genet Med 7 2005 584 587
- (2005) Genet Med , vol.7 , pp. 584-587
- Sherman, S¹ Pletcher, BA² Driscoll, DA³

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