Science 24 May 1991: Vol. 252. no. 5009, pp. 1179 - 1181 DOI: 10.1126/science.252.5009.1179

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Articles

You Can Build It ... But Will They Come?: The Potential "Expansion" of Testing Methodologies for Fragile X Syndrome.

N. T. Potter (2009)
J. Mol. Diagn. 11, 279-280
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Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's Population.

H. Puusepp, T. Kahre, H. Sibul, V. Soo, I. Lind, E. Raukas, and K. Ounap (2008)
J Child Neurol 23, 1400-1405
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The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA.

S. Khateb, P. Weisman-Shomer, I. Hershco-Shani, A. L. Ludwig, and M. Fry (2007)
Nucleic Acids Res. 35, 5775-5788
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A unified genetic theory for sporadic and inherited autism.

X. Zhao, A. Leotta, V. Kustanovich, C. Lajonchere, D. H. Geschwind, K. Law, P. Law, S. Qiu, C. Lord, J. Sebat, et al. (2007)
PNAS 104, 12831-12836
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Multiple displacement amplification improves PGD for fragile X syndrome.

P. Burlet, N. Frydman, N. Gigarel, V. Kerbrat, G. Tachdjian, E. Feyereisen, J.-P. Bonnefont, R. Frydman, A. Munnich, and J. Steffann (2006)
Mol. Hum. Reprod. 12, 647-652
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Familial Occurrence of the IMAGe Association: Additional Clinical Variants and a Proposed Mode of Inheritance.

I. Bergada, G. del Rey, P. Lapunzina, C. Bergada, M. Fellous, and S. Copelli (2005)
J. Clin. Endocrinol. Metab. 90, 3186-3190
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The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.

C. J. Moore, E. M. Daly, F. Tassone, C. Tysoe, N. Schmitz, V. Ng, X. Chitnis, P. McGuire, J. Suckling, K. E. Davies, et al. (2004)
Brain 127, 2672-2681
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A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

D Efron, M B Delatycki, M G de Silva, A Langbein, W Slaghuis, A Larson, H-H M Dahl, and S M Forrest (2003)
J. Med. Genet. 40, e15-15
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The Fragile X Premutation Presenting as Essential Tremor.

M. A. Leehey, R. P. Munhoz, A. E. Lang, J. A. Brunberg, J. Grigsby, C. Greco, S. Jacquemont, F. Tassone, A. M. Lozano, P. J. Hagerman, et al. (2003)
Arch Neurol 60, 117-121
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Epigenetic risks related to assisted reproductive technologies: Risk analysis and epigenetic inheritance.

M. De Rycke, I. Liebaers, and A. Van Steirteghem (2002)
Hum. Reprod. 17, 2487-2494
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Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

C. M. Greco, R. J. Hagerman, F. Tassone, A. E. Chudley, M. R. Del Bigio, S. Jacquemont, M. Leehey, and P. J. Hagerman (2002)
Brain 125, 1760-1771
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Genetic effects on human cognition: lessons from the study of mental retardation syndromes.

P Nokelainen and J Flint (2002)
J. Neurol. Neurosurg. Psychiatry 72, 287-296
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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.

C. Dombrowski, S. Levesque, M. L. Morel, P. Rouillard, K. Morgan, and F. Rousseau (2002)
Hum. Mol. Genet. 11, 371-378
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Instability of a (CGG)98 repeat in the Fmr1 promoter.

C. J. M. Bontekoe, C. E. Bakker, I. M. Nieuwenhuizen, H. van der Linde, H. Lans, D. de Lange, M. C. Hirst, and B. A. Oostra (2001)
Hum. Mol. Genet. 10, 1693-1699
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Characterization of dFMR1, a Drosophila melanogaster Homolog of the Fragile X Mental Retardation Protein.

L. Wan, T. C. Dockendorff, T. A. Jongens, and G. Dreyfuss (2000)
Mol. Cell. Biol. 20, 8536-8547
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FRAXA and FRAXE: the results of a five year survey.

S. A Youings, A. Murray, N. Dennis, S. Ennis, C. Lewis, N. McKechnie, M. Pound, A. Sharrock, and P. Jacobs (2000)
J. Med. Genet. 37, 415-421
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Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.

C. Jones, R. Mullenbach, P. Grossfeld, R. Auer, R. Favier, K. Chien, M. James, A. Tunnacliffe, and F. Cotter (2000)
Hum. Mol. Genet. 9, 1201-1208
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Understanding the molecular basis of fragile X syndrome.

P. Jin and S. T. Warren (2000)
Hum. Mol. Genet. 9, 901-908
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Interruption of the fragile X syndrome expanded sequence d(CGG)n by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)n tetrahelical structures.

P. Weisman-Shomer, E. Cohen, and M. Fry (2000)
Nucleic Acids Res. 28, 1535-1541
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Stability of the Human Fragile X (CGG)n Triplet Repeat Array in Saccharomyces cerevisiae Deficient in Aspects of DNA Metabolism.

P. J. White, R. H. Borts, and M. C. Hirst (1999)
Mol. Cell. Biol. 19, 5675-5684
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Screening for the fragile X syndrome among the mentally retarded: a clinical study.

B. B A de Vries, S. Mohkamsing, A. M W van den Ouweland, E. Mol, K. Gelsema, M. van Rijn, A. Tibben, D. J J Halley, H. J Duivenvoorden, B. A Oostra, et al. (1999)
J. Med. Genet. 36, 467-470
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Dilemmas in counselling females with the fragile X syndrome.

B. B A de Vries, H. M A van den Boer-van den Berg, M. F Niermeijer, and A. Tibben (1999)
J. Med. Genet. 36, 167-170
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Inactivation of the Luteinizing Hormone/Chorionic Gonadotropin Receptor by an Insertional Mutation in Leydig Cell Hypoplasia.

S.-M. Wu, K. M. Hallermeier, L. Laue, C. Brain, A. C. Berry, D. B. Grant, J. E. Griffin, J. D. Wilson, G. B. Cutler Jr., and W.-Y. Chan (1998)
Mol. Endocrinol. 12, 1651-1660
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Direct cloning and analysis of DNA sequences from a region of the Chinese hamster genome associated with aphidicolin-sensitive fragility.

A. Palin, R Critcher, D. Fitzgerald, J. Anderson, and C. Farr (1998)
J. Cell Sci. 111, 1623-1634
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Macroorchidism in FMR1 Knockout Mice Is Caused by Increased Sertoli Cell Proliferation during Testicular Development.

K. E. Slegtenhorst-Eegdeman, D. G. de Rooij, M. Verhoef-Post, H. J. G. van de Kant, C. E. Bakker, B. A. Oostra, J. A. Grootegoed, and A. P. N. Themmen (1998)
Endocrinology 139, 156-162
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Identification and Chromosomal Localization of Human Genes Containing CAG/CTG Repeats Expressed in Testis and Brain.

F. Bulle, N. Chiannilkulchai, A. Pawlak, J. Weissenbach, G. Gyapay, and G. Guellaen (1997)
Genome Res. 7, 705-715
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Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation.

I. J. Weiler, S. A. Irwin, A. Y. Klintsova, C. M. Spencer, A. D. Brazelton, K. Miyashiro, T. A. Comery, B. Patel, J. Eberwine, and W. T. Greenough (1997)
PNAS 94, 5395-5400
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Nucleosome Assembly on Methylated CGG Triplet Repeats in the Fragile X Mental Retardation Gene 1Promoter.

J. S. Godde, S. U. Kass, M. C. Hirst, and A. P. Wolffe (1996)
J. Biol. Chem. 271, 24325-24328
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The Molecular Basis of Fragile X Syndrome.

D.E. Eberhart and S.T. Warren (1996)
Cold Spring Harb Symp Quant Biol 61, 679-687
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The Fragile X Syndrome Single Strand d(CGG)[IMAGE] Nucleotide Repeats Readily Fold Back to Form Unimolecular Hairpin Structures.

Y. Nadel, P. Weisman-Shomer, and M. Fry (1995)
J. Biol. Chem. 270, 28970-28977
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The Prevention of Neurogenetic Disease.

R. N. Rosenberg and S. T. Iannaccone (1995)
Arch Neurol 52, 356-362
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Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis.

J. Nancarrow, E Kremer, K Holman, H Eyre, N. Doggett, D Le Paslier, D. Callen, G. Sutherland, and R. Richards (1994)
Science 264, 1938-1941
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Molecular Predictors of Cognitive Involvement in Female Carriers of Fragile X Syndrome.

A. K. Taylor, J. F. Safanda, M. Z. Fall, C. Quince, K. A. Lang, C. E. Hull, I. Carpenter, L. W. Staley, and R. J. Hagerman (1994)
JAMA 271, 507-514
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Advances in Molecular Analysis of Fragile X Syndrome.

S. T. Warren and D. L. Nelson (1994)
JAMA 271, 536-542
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Fragile X Syndrome: Improving Understanding and Diagnosis.

C. T. Caskey (1994)
JAMA 271, 552-553
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Picture of the Month.

A. K. C. Leung, D. R. McLeod, W. L. M. Robson, and J. E. Fagan (1994)
Arch Pediatr Adolesc Med 148, 63-64
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Direct DNA Testing for Fragile X Syndrome.

F. J. Ramos, D. L. Eunpu, B. Finucane, and E. G. Pfendner (1993)
Arch Pediatr Adolesc Med 147, 1231-1235
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FMR1 protein: conserved RNP family domains and selective RNA binding.

C. Ashley Jr, K. Wilkinson, D Reines, and S. Warren (1993)
Science 262, 563-566
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test.

W. T. Brown, G. E. Houck Jr, A. Jeziorowska, F. N. Levinson, X. Ding, C. Dobkin, N. Zhong, J. Henderson, S. S. Brooks, and E. C. Jenkins (1993)
JAMA 270, 1569-1575
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Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.

K. O'Hoy, C Tsilfidis, M. Mahadevan, C. Neville, J Barcelo, A. Hunter, and R. Korneluk (1993)
Science 259, 809-812
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A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group.

(1992)
Science 258, 67-86
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A Large New England Kindred With Autosomal Dominant Neurogenic Scapuloperoneal Amyotrophy With Unique Features.

R. DeLong and T. Siddique (1992)
Arch Neurol 49, 905-908
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Triplet repeat mutations in human disease.

C. Caskey, A Pizzuti, Y. Fu, R. Fenwick Jr, and D. Nelson (1992)
Science 256, 784-789
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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

M Mahadevan, C Tsilfidis, L Sabourin, G Shutler, C Amemiya, G Jansen, C Neville, M Narang, J Barcelo, K O'Hoy, et al. (1992)
Science 255, 1253-1255
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Fragile X Syndrome: An Educator's Role in Identification, Prevention, and Intervention.

K. E. Santos (1992)
Remedial and Special Education 13, 32-39
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Chromosome Fragility and Psychopathology in Obligate Female Carriers of the Fragile X Chromosome.

L. S. Freund, A. L. Reiss, R. Hagerman, and S. Vinogradov (1992)
Arch Gen Psychiatry 49, 54-60
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Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences..

E D Green and P Green (1991)
Genome Res. 1, 77-90
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Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

E. Kremer, M Pritchard, M Lynch, S Yu, K Holman, E Baker, S. Warren, D Schlessinger, G. Sutherland, and R. Richards (1991)
Science 252, 1711-1714
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Human Ku Antigen Tightly Binds and Stabilizes a Tetrahelical Form of the Fragile X Syndrome d(CGG)n Expanded Sequence.

L. Uliel, P. Weisman-Shomer, H. Oren-Jazan, T. Newcomb, L. A. Loeb, and M. Fry (2000)
J. Biol. Chem. 275, 33134-33141
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Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator of CFTR Exon 9.

E. Buratti and F. E. Baralle (2001)
J. Biol. Chem. 276, 36337-36343
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