Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping von Bruno, D L, White, S M, Ganesamoorthy, D, Burgess, T, Butler, K, Corrie, S, Francis, D, Hills, L, Prabhakara, K, Ngo, C, Norris, F, Oertel, R, Pertile, M D, Stark, Z, Amor, D J, Slater, H R

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Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA) von Slater, H R, Bruno, D L, Ren, H, Pertile, M, Schouten, J P, Choo, K H A

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Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism von Loesch, DZ, Khaniani, MS, Slater, HR, Rubio, JP, Bui, QM, Kotschet, K, D'Souza, W, Venn, A, Kalitsis, P, Choo, AKH, Burgess, T, Johnson, L, Evans, A, Horne, M

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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogene... von Bruno, D L, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, R J M, Hunter, M, James, P A, Kannu, P, McGillivray, G, Pachter, N, Peters, H, Rieubland, C, Savarirayan, R, Scheffer, I E, Sheffield, L, Tan, T, White, S M, Yeung, A, Bowman, Z, Ngo, C, Choy, K W, Cacheux, V, Wong, L, Amor, D J, Slater, H R

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Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare... von Ganesamoorthy, D, Bruno, DL, McGillivray, G, Norris, F, White, SM, Adroub, S, Amor, DJ, Yeung, A, Oertel, R, Pertile, MD, Ngo, C, Arvaj, AR, Walker, S, Charan, P, Palma‐Dias, R, Woodrow, N, Slater, HR

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White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism von Loesch, D.Z., Kotschet, K., Trost, N., Greco, C.M., Kinsella, G., Slater, H.R., Venn, A., Horne, M.

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New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease von Loesch, DZ, Tassone, F, Lo, J, Slater, HR, Hills, LV, Bui, MQ, Silburn, PA, Mellick, GD

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A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes von Loesch, D Z, Cook, M, Litewka, L, Gould, E, Churchyard, A, Tassone, F, Slater, H R, Storey, E

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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion von Cardoso, C, Boys, A, Parrini, E, Mignon-Ravix, C, McMahon, J M, Khantane, S, Bertini, E, Pallesi, E, Missirian, C, Zuffardi, O, Novara, F, Villard, L, Giglio, S, Chabrol, B, Slater, H R, Moncla, A, Scheffer, I E, Guerrini, R

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β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles von Kraan, C. M., Cornish, K. M., Bui, Q. M., Li, X., Slater, H. R., Godler, D. E.

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A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein : activation of a latent centromere ? von VOULLAIRE, L. E, SLATER, H. R, PETROVIC, V, ANDY CHOO, K. H

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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes von Bruno, Damien L, Anderlid, Britt-Marie, Lindstrand, Anna, van Ravenswaaij-Arts, Conny, Ganesamoorthy, Devika, Lundin, Johanna, Martin, Christa Lese, Douglas, Jessica, Nowak, Catherine, Adam, Margaret P, Kooy, R Frank, Van der Aa, Nathalie, Reyniers, Edwin, Vandeweyer, Geert, Stolte-Dijkstra, Irene, Dijkhuizen, Trijnie, Yeung, Alison, Delatycki, Martin, Borgström, Birgit, Thelin, Lena, Cardoso, Carlos, van Bon, Bregje, Pfundt, Rolph, de Vries, Bert B A, Wallin, Anders, Amor, David J, James, Paul A, Slater, Howard R, Schoumans, Jacqueline

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Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females von Shelton, A L, Cornish, K M, Kolbe, S, Clough, M, Slater, H R, Li, X, Kraan, C M, Bui, Q M, Godler, D E, Fielding, J

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FMR1 alleles in Tasmania: a screening study of the special educational needs population von Mitchell, RJ, Holden, JJA, Zhang, C, Curlis, Y, Slater, HR, Burgess, T, Kirkby, KC, Carmichael, A, Heading, KD, Loesch, DZ

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High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs von Slater, Howard R., Bailey, Dione K., Ren, Hua, Cao, Manqiu, Bell, Katrina, Nasioulas, Steven, Henke, Robert, Choo, K.H. Andy, Kennedy, Giulia C.

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Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3→q21 von Li, L., Moore, P., Ngo, C., Petrovic, V., White, S.M., Northrop, E., Ioannou, P.A., McKinlay Gardner, R.J., Slater, H.R.

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Authors' response to: Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare... von McGillivray, G, Bruno, DL, Slater, HR, Amor, DJ

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Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion von Steele, D.L., Chisholm, A.K., McGhie, J.D.R., Gardner, R.J.M., Scheffer, I.E., Slater, H.R., Dawson, G.

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Neocentromere formation in a stable ring 1p32-p36.1 chromosome von Slater, Howard R, Nouri, Sara, Earle, Elizabeth, Lo, Anthony W I, Hale, Lyndon G, Choo, K H Andy

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Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection von Delatycki, Martin B, Voullaire, Lucille, Francis, David, Petrovic, Vida, Robertson, Anne, Webber, Lorna M, Slater, Howard R

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