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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A new dominantly inherited pure cerebellar ataxia, SCA 30 von Storey, E, Bahlo, M, Fahey, M, Sisson, O, Lueck, C J, Gardner, R J M

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A novel role for the DNA repair gene Rad51 in Netrin-1 signalling von Glendining, K. A., Markie, D., Gardner, R. J. M., Franz, E. A., Robertson, S. P., Jasoni, C. L.

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Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome von Coman, D., Gardner, R.J.M., Pertile, M.D., Kannu, P.

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Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease von Kandt, R. S, Haines, J. L, Smith, M, Northrup, H, Gardner, R. J. M, Short, M. P, Dumars, K, Roach, E. S, Steingold, S, Wall, S, Blanton, S. H, Flodman, P, Kwiatkowski, D. J, Jewell, A, Weber, J. L, Roses, A. D, Pericak-Vance, M. A

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“SCA16” is really SCA15 von Gardner, R J M

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The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene von Gardner, RJ, Kool, D, Edkins, E, Walpole, IR, Macrae, FA, Nasioulas, S, Scott, WJ

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Early-onset Alzheimerʼs disease caused by a novel mutation at codon 219 of the presenilin-1 gene von Smith, M J, Gardner, R J. M, Knight, M A, Forrest, S M, Beyreuther, K, Storey, E, McLean, C A, Cotton, R G. H, Cappal, R, Masters, C L

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Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain von McGillivray, G, Savarirayan, R, Cox, T C, Stojkoski, C, McNeil, R, Bankier, A, Bateman, J F, Roscioli, T, Gardner, R J M, Lamandé, S R

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Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2 von Kennerson, M.L., Zhu, D., Gardner, R.J.M., Storey, E., Merory, J., Robertson, S.P., Nicholson, G.A.

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Three cases of trisomy 13 mosaicism and a review of the literature von Delatycki, M., Gardner, R. J. M.

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Near-Total Absence of the Cerebellum von Gardner, R. J. M., Coleman, L. T., Mitchell, L. A., Smith, L. J., Harvey, A. S., Scheffer, I. E., Storey, E., Nowotny, M. J., Sloane, R. A., Lubitz, L.

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Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene von Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine

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The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome von Bamshad, M., Le, T., Watkins, W.S., Dixon, M.E., Kramer, B.E., Roeder, A.D., Carey, J.C., Root, S., Schinzel, A., Van Maldergem, L., Gardner, R.J.M., Lin, R.C., Seidman, C.E., Seidman, J.G., Wallerstein, R., Moran, E., Sutphen, R., Campbell, C.E., Jorde, L.B.

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High frequency hearing loss correlated with mutations in the GJB2 gene von WILCOX, S. A, SAUNDERS, K, CONE-WESSON, B, WILLIAMSON, R, DAHL, H.-H. M, OSBORN, A. H, ARNOLD, A, WUNDERLICH, J, KELLY, T, COLLINS, V, WILCOX, L. J, GARDNER, R. J. M, KAMARINOS, M

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Novel p53 germline mutation in a patient with Li−Fraumeni syndrome von Wong, S. S., Lozano, G., Gaff, C. L., Gardner, R. J. M., Strong, L. C., Aittomäki, K., Lindeman, G. J.

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Linkage of an autosomal dominant clefting syndrome (Van der Woude) to Loci on chromosome Iq von MURRAY, J. C, NISHIMURA, D. Y, GLINSKI, L. P, PAULI, R. M, NAKAMURA, Y, GREEN, P. P, SCHINZEL, A, BUETOW, K. H, ARDINGER, H. H, SPENCE, M. A, SPARKES, R. S, FALK, R. E, FALK, P. M, GARDNER, R. J. M, HARKNESS, E. M

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A new autosomal dominant pure cerebellar ataxia von STOREY, E, GARDNER, R. J. M, KNIGHT, M. A, KENNERSON, M. L, TUCK, R. R, FORREST, S. M, NICHOLSON, G. A

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Why economics matters for endangered species protection von Shogren, Jason F., Tschirhart, John, Anderson, Terry, Ando, Amy Whritenour, Beissinger, Steven R., Brookshire, David, Brown, Gardner M., Coursey, Don, Innes, Robert, Meyer, Stephen M., Polasky, Stephan

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Syntelencephaly Presenting with Spastic Diplegia von Coleman, L. T., McCubbin, J. P., Smith, L. J., Reddihough, D. S., Gardner, M. R. J.

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