Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia (English)
- New search for: Van Esch, H.
- New search for: Dom, R.
- New search for: Bex, D.
- New search for: Salden, I.
- New search for: Caeckebeke, J.
- New search for: Wibail, A.
- New search for: Borghgraef, M.
- New search for: Legius, E.
- New search for: Fryns, J.-P.
- New search for: Matthijs, G.
- New search for: Van Esch, H.
- New search for: Dom, R.
- New search for: Bex, D.
- New search for: Salden, I.
- New search for: Caeckebeke, J.
- New search for: Wibail, A.
- New search for: Borghgraef, M.
- New search for: Legius, E.
- New search for: Fryns, J.-P.
- New search for: Matthijs, G.
In:
EUROPEAN JOURNAL OF HUMAN GENETICS
;
13
, 1
;
121-123
;
2005
-
ISSN:
- Article (Journal) / Print
-
Title:Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia
-
Contributors:Van Esch, H. ( author ) / Dom, R. ( author ) / Bex, D. ( author ) / Salden, I. ( author ) / Caeckebeke, J. ( author ) / Wibail, A. ( author ) / Borghgraef, M. ( author ) / Legius, E. ( author ) / Fryns, J.-P. ( author ) / Matthijs, G. ( author )
-
Published in:EUROPEAN JOURNAL OF HUMAN GENETICS ; 13, 1 ; 121-123
-
Publisher:
- New search for: Nature Publishing Group
-
Publication date:2005-01-01
-
Size:3 pages
-
ISSN:
-
Type of media:Article (Journal)
-
Type of material:Print
-
Language:English
- New search for: 599.435
- Further information on Dewey Decimal Classification
-
Classification:
DDC: 599.435 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 13, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 2
-
Screening for FXTASJacquemont, S. et al. | 2005
- 4
-
Duchenne Muscular Dystrophy: Stalled at the junction?Segalat, L. / Anderson, J. E. et al. | 2005
- 6
-
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulnessvan Karnebeek, C. D. M. / Jansweijer, M. C. E. / Leenders, A. G. E. / Offringa, M. / Hennekam, R. C. M. et al. | 2005
- 26
-
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairmentJacobs, H. T. / Hutchin, T. P. / Kappi, T. / Gillies, G. / Minkkinen, K. / Walker, J. / Thompson, K. / Rovio, A. T. / Carella, M. / Melchionda, S. et al. | 2005
- 34
-
Situs ambiguus in a female fetus with balanced (X; 21) translocation - evidence for functional nullisomy of the ZIC3 gene?Fritz, B. / Kunz, J. / Knudsen, G. P. S. / Louwen, F. / Kennerknecht, I. / Eiben, B. / Orstavik, K. H. / Friedrich, U. / Rehder, H. et al. | 2005
- 41
-
Subcellular distribution of HP1 proteins is altered in ICF syndromeLuciani, J. J. / Depetris, D. / Missirian, C. / Mignon-Ravix, C. / Metzler-Guillemain, C. / Megarbane, A. / Moncla, A. / Mattei, M.-G. et al. | 2005
- 52
-
Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosomeVermeulen, S. J. / Speleman, F. / Vanransbeeck, L. / Verspeet, J. / Menten, B. / Verschraegen-Spae, M.-R. / De Wilde, P. / Messiaen, L. / Michaelis, R. C. / Leroy, J. G. et al. | 2005
- 59
-
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complexNellist, M. / Sancak, O. / Goedbloed, M. A. / Rohe, C. / van Netten, D. / Mayer, K. / Tucker-Williams, A. / van den Ouweland, A. M. W. / Halley, D. J. J. et al. | 2005
- 69
-
Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot studyStuhrmann, M. / Strassburg, C. / Schmidtke, J. et al. | 2005
- 79
-
Overdispersion of allele frequency differences between populations: implications for meta-analyses of genotypic disease associationsMolony, C. M. / Fitzgerald, A. P. / Shields, D. C. et al. | 2005
- 86
-
Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?Janosikova, B. / Zavadakova, P. / Kozich, V. et al. | 2005
- 96
-
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosisDe Rose, V. / Arduino, C. / Cappello, N. / Piana, R. / Salmin, P. / Bardessono, M. / Goia, M. / Padoan, R. / Bignamini, E. / Costantini, D. et al. | 2005
- 102
-
Interaction between obesity-susceptibility loci in chromosome regions 2p25-p24 and 13q13-q21Dong, C. / Li, W.-D. / Li, D. / Price, R. A. et al. | 2005
- 109
-
Biological variations, genetic polymorphisms and familial resemblance of TNF-alpha and IL-6 concentrations: STANISLAS cohortHaddy, N. / Sass, C. / Maumus, S. / Marie, B. / Droesch, S. / Siest, G. / Lambert, D. / Visvikis, S. et al. | 2005
- 118
-
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxiasDalski, A. / Atici, J. / Kreuz, F. R. / Hellenbroich, Y. / Schwinger, E. / Zuhlke, C. et al. | 2005
- 121
-
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxiaVan Esch, H. / Dom, R. / Bex, D. / Salden, I. / Caeckebeke, J. / Wibail, A. / Borghgraef, M. / Legius, E. / Fryns, J.-P. / Matthijs, G. et al. | 2005
- 124
-
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controlsEvans, J. C. / Archer, H. L. / Whatley, S. D. / Kerr, A. / Clarke, A. / Butler, R. et al. | 2005
- 127
-
Family-based association study of DYX1C1 variants in autismYlisaukko-oja, T. / Peyrard-Janvid, M. / Lindgren, C. M. / Rehnstrom, K. / Vanhala, R. / Peltonen, L. / Jarvela, I. / Kere, J. et al. | 2005