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Volumn 11, Issue 4, 2002, Pages 371-378

Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

(6) Dombrowski, C a Levesque S a Morel, M L a Rouillard, P a Morgan, K b Rousseau, F a,c

a LAVAL UNIVERSITY (Canada)

b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE (Canada)

c Unité de Recherche en Génétique Humaine et Moléculaire (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE;

ALLELE; ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; FRAGILE X SYNDROME; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC STABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POPULATION; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SOUTHERN BLOTTING;

EID: 0037084852 PISSN: 09646906 EISSN: None Source Type: Journal
DOI: 10.1093/hmg/11.4.371 Document Type: Article

Times cited : (272)

References (40)

1
- 0000963145
- The fragile-X syndrome
- Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle,D. (eds), 7th edn. McGraw-Hill, New York
- (1995) The Metabolic and Molecular Bases of Inherited Disease , vol.1 , pp. 795-810
- Nussbaum, R.L.¹ Ledbetter, D.H.²

2
- 0026339303
- Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
- (1991) Science , vol.252 , pp. 1097-1102
- Oberle, I.¹ Rousseau, F.² Heitz, D.³ Kretz, C.⁴ Devys, D.⁵ Hanauer, A.⁶ Boue, J.⁷ Bertheas, M.F.⁸ Mandel, J.L.⁹

3
- 0025905795
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
- (1991) Cell , vol.65 , pp. 905-914
- Verkerk, A.J.¹ Pieretti, M.² Sutcliffe, J.S.³ Fu, Y.H.⁴ Kuhl, D.P.⁵ Pizzuti, A.⁶ Reiner, O.⁷ Richards, S.⁸ Victoria, M.F.⁹ Zhang, F.P.¹⁰

4
- 0026347628
- Fragile X genotype characterized by an unstable region of DNA
- (1991) Science , vol.252 , pp. 1179-1181
- Yu, S.¹ Pritchard, M.² Kremer, E.³ Lynch, M.⁴ Nancarrow, J.⁵ Baker, E.⁶ Holman, K.⁷ Mulley, J.C.⁸ Warren, S.T.⁹ Schlessinger, D.¹⁰

5
- 0025968567
- Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
- (1991) Nature , vol.349 , pp. 624-626
- Vincent, A.¹ Heitz, D.² Petit, C.³ Kretz, C.⁴ Oberle, I.⁵ Mandel, J.L.⁶

6
- 0001299954
- FMR1 gene and mutations in fragile-X syndrome: Molecular biology, biochemistry, and genetics
- Wells,R.D. and Warren,S.T. (eds), Academic Press, San Diego, CA
- (1998) Genetic Instabilities and Hereditary Neurological Diseases , pp. 27-53
- Imbert, G.¹ Feng, Y.² Nelson, D.L.³ Warren, S.T.⁴ Mandel, J.L.⁵

7
- 0028264043
- High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
- (1994) Am. J. Med. Genet. , vol.51 , pp. 298-308
- Hagerman, R.J.¹ Hull, C.E.² Safanda, J.F.³ Carpenter, I.⁴ Staley, L.W.⁵ O'Connor, R.A.⁶ Seydel, C.⁷ Mazzocco, M.M.⁸ Snow, K.⁹ Thibodeau, S.N.¹⁰

8
- 0028364499
- Mosaicism in fragile X affected males
- (1994) Am. J. Med. Genet. , vol.51 , pp. 509-512
- Nolin, S.L.¹ Glicksman, A.² Houck G.E., Jr.³ Brown, W.T.⁴ Dobkin, C.S.⁵

9
- 0028141919
- A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases
- (1994) Am. J. Hum. Genet. , vol.55 , pp. 225-237
- Rousseau, F.¹ Heitz, D.² Tarleton, J.³ MacPherson, J.⁴ Malmgren, H.⁵ Dahl, N.⁶ Barnicoat, A.⁷ Mathew, C.⁸ Mornet, E.⁹ Tejada, I.¹⁰

10
- 0028360849
- Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
- (1994) Cell , vol.77 , pp. 853-861
- Kunst, C.B.¹ Warren, S.T.²

11
- 19244362362
- Familial transmission of the FMR1 CGG repeat
- (1996) Am. J. Hum. Genet. , vol.59 , pp. 1252-1261
- Nolin, S.L.¹ Lewis F.A. III² Ye, L.L.³ Houck G.E., Jr.⁴ Glicksman, A.E.⁵ Limprasert, P.⁶ Li, S.Y.⁷ Zhong, N.⁸ Ashley, A.E.⁹ Feingold, E.¹⁰

12
- 0026547912
- Population genetics of the fragile-X syndrome: Multiallelic model for the FMR1 locus
- (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 4215-4217
- Morton, N.E.¹ Macpherson, J.N.²

13
- 0029002692
- An n-allele model for progressive amplification in the FMR1 locus
- (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 4833-4837
- Morris, A.¹ Morton, N.E.² Collins, A.³ Macpherson, J.⁴ Nelson, D.⁵ Sherman, S.⁶

14
- 0028237297
- Population genetics of fragile X: A multiple allele model with variable risk of CGG repeat expansion
- (1994) Am. J. Med. Genet. , vol.51 , pp. 428-435
- Kolehmainen, K.¹

15
- 0028799833
- Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome
- (1995) Am. J. Hum. Genet. , vol.57 , pp. 1006-1018
- Rousseau, F.¹ Rouillard, P.² Morel, M.L.³ Khandjian, E.W.⁴ Morgan, K.⁵

16
- 0027793747
- Striking founder effect for the fragile X syndrome in Finland
- (1993) Eur. J. Hum. Genet. , vol.1 , pp. 181-189
- Oudet, C.¹ von Koskull, H.² Nordstrom, A.M.³ Peippo, M.⁴ Mandel, J.L.⁵

17
- 0026462708
- Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
- (1992) J. Med. Genet. , vol.29 , pp. 794-801
- Heitz, D.¹ Devys, D.² Imbert, G.³ Kretz, C.⁴ Mandel, J.L.⁵

18
- 0032231936
- Examination of factors associated with instability of the FMR1 CGG repeat
- (1998) Am. J. Hum. Genet. , vol.63 , pp. 776-785
- Ashley-Koch, A.E.¹ Robinson, H.² Glicksman, A.E.³ Nolin, S.L.⁴ Schwartz, C.E.⁵ Brown, W.T.⁶ Turner, G.⁷ Sherman, S.L.⁸

19
- 0033069502
- Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population
- (1999) Am. J. Hum. Genet. , vol.64 , pp. 495-507
- Crawford, D.C.¹ Meadows, K.L.² Newman, J.L.³ Taft, L.F.⁴ Pettay, D.L.⁵ Gold, L.B.⁶ Hersey, S.J.⁷ Hinkle, E.F.⁸ Stanfield, M.L.⁹ Holmgreen, P.¹⁰

20
- 7844247606
- Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1
- (1998) Hum. Mol. Genet. , vol.7 , pp. 1935-1946
- Gunter, C.¹ Paradee, W.² Crawford, D.C.³ Meadows, K.A.⁴ Newman, J.⁵ Kunst, C.B.⁶ Nelson, D.L.⁷ Schwartz, C.⁸ Murray, A.⁹ Macpherson, J.N.¹⁰

21
- 84942947953
- Advances in molecular analysis of fragile X syndrome
- (1994) J. Am. Med. Assoc. , vol.271 , pp. 536-542
- Warren, S.T.¹ Nelson, D.L.²

22
- 0028168645
- Length of uninterrupted CGG repeats determines instability in the FMR1 gene
- (1994) Nat. Genet. , vol.8 , pp. 88-94
- Eichler, E.E.¹ Holden, J.J.² Popovich, B.W.³ Reiss, A.L.⁴ Snow, K.⁵ Thibodeau, S.N.⁶ Richards, C.S.⁷ Ward, P.A.⁸ Nelson, D.L.⁹

23
- 0028133504
- Precursor arrays for triplet repeat expansion at the fragile X locus
- (1994) Hum. Mol. Genet. , vol.3 , pp. 1553-1560
- Hirst, M.C.¹ Grewal, P.K.² Davies, K.E.³

24
- 0029017085
- Fragile X gene instability: Anchoring AGGs and linked microsatellites
- (1995) Am. J. Hum. Genet. , vol.57 , pp. 351-361
- Zhong, N.¹ Yang, W.² Dobkin, C.³ Brown, W.T.⁴

25
- 0028074287
- Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
- (1994) Hum. Mol. Genet. , vol.3 , pp. 1543-1551
- Snow, K.¹ Tester, D.J.² Kruckeberg, K.E.³ Schaid, D.J.⁴ Thibodeau, S.N.⁵

26
- 0029980776
- Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations
- (1996) Am. J. Med. Genet. , vol.64 , pp. 220-225
- Eichler, E.E.¹ Nelson, D.L.²

27
- 0028886722
- Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
- (1995) Hum. Mol. Genet. , vol.4 , pp. 2199-2208
- Eichler, E.E.¹ Hammond, H.A.² Macpherson, J.N.³ Ward, P.A.⁴ Nelson, D.L.⁵

28
- 0030008960
- Fragile X 'gray zone' alleles: AGG patterns, expansion risks, and associated haplotypes
- (1996) Am. J. Med. Genet. , vol.64 , pp. 261-265
- Zhong, N.¹ Ju, W.² Pietrofesa, J.³ Wang, D.⁴ Dobkin, C.⁵ Brown, W.T.⁶

29
- 8044254656
- The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission
- (1997) Hum. Mol. Genet. , vol.6 , pp. 173-184
- Murray, A.¹ Macpherson, J.N.² Pound, M.C.³ Sharrock, A.⁴ Youings, S.A.⁵ Dennis, N.R.⁶ McKechnie, N.⁷ Linehan, P.⁸ Morton, N.E.⁹ Jacobs, P.A.¹⁰

30
- 13144256778
- FRAXA and FRAXE: Evidence against segregation distortion and for an effect of intermediate alleles on learning disability
- (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 719-724
- Teague, J.W.¹ Morton, N.E.² Dennis, N.R.³ Curtis, G.⁴ McKechnie, N.⁵ Macpherson, J.N.⁶ Murray, A.⁷ Pound, M.C.⁸ Sharrock, A.J.⁹ Youings, S.A.¹⁰

31
- 0034917943
- Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
- (2001) Am. J. Hum. Genet. , vol.69 , pp. 351-360
- Toledano-Alhadef, H.¹ Basel-Vanagaite, L.² Magal, N.³ Daviodov, B.⁴ Ehrlich, S.⁵ Drasinover, V.⁶ Taub, E.⁷ Halpern, G.⁸ Ginott, N.⁹ Shohat, M.¹⁰

32
- 0031395376
- Screening for fragile X syndrome: Information needs for health planners
- (1997) J. Med. Screen. , vol.4 , pp. 60-94
- Murray, J.¹ Cuckle, H.² Taylor, G.³ Hewison, J.⁴

33
- 2442724489
- Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies
- (1999) Eur. J. Hum. Genet. , vol.7 , pp. 212-216
- Ryynanen, M.¹ Heinonen, S.² Makkonen, M.³ Kajanoja, E.⁴ Mannermaa, A.⁵ Pertti, K.⁶

34
- 0029916569
- Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome
- (1996) Hum. Mol. Genet. , vol.5 , pp. 319-330
- Eichler, E.E.¹ Macpherson, J.N.² Murray, A.³ Jacobs, P.A.⁴ Chakravarti, A.⁵ Nelson, D.L.⁶

35
- 0030580987
- Significance of linkage disequilibrium between the fragile X locus and its flanking markers
- (1996) Am. J. Med. Genet. , vol.64 , pp. 203-208
- Chiurazzi, P.¹ Macpherson, J.² Sherman, S.³ Neri, G.⁴

36
- 0028180978
- High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis
- (1994) Hum. Mutat. , vol.4 , pp. 51-54
- Rousseau, F.¹ Rehel, R.² Rouillard, P.³ DeGranpre, P.⁴ Khandjian, E.W.⁵

37
- 0025952727
- Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
- (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 Boue, J.⁶ Tommerup, N.⁷ Van Der Hagen, C.⁸ DeLozier-Blanchet, C.⁹ Croquette, M.F.¹⁰

38
- 0026345716
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
- (1991) Cell , vol.67 , pp. 1047-1058
- Fu, Y.H.¹ Kuhl, D.P.² Pizzuti, A.³ Pieretti, M.⁴ Sutcliffe, J.S.⁵ Richards, S.⁶ Verkerk, A.J.⁷ Holden, J.J.⁸ Fenwick R.G., Jr.⁹ Warren, S.T.¹⁰

39
- 0026893655
- Evidence of founder chromosomes in fragile X syndrome
- (1992) Nat. Genet. , vol.1 , pp. 257-260
- Richards, R.I.¹ Holman, K.² Friend, K.³ Kremer, E.⁴ Hillen, D.⁵ Staples, A.⁶ Brown, W.T.⁷ Goonewardena, P.⁸ Tarleton, J.⁹ Schwartz, C.¹⁰

40
- 0033515541
- DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome and proposal for a new allele nomenclature
- (1999) Am. J. Med. Genet. , vol.83 , pp. 347-349
- Chiurazzi, P.¹ Pomponi, M.G.² Sharrock, A.³ Macpherson, J.⁴ Lormeau, S.⁵ Morel, M.L.⁶ Rousseau, F.⁷

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