Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
Maldergem, Lionel Van, Munroe, Patricia B, Ziereisen, France, Olgunturk, Rana O, Chung, Eddie, Fryns, Jean-Pierre, Yuksel, Bulend, Gardiner, R. Mark
Published in Nature genetics (01.01.1999)
Published in Nature genetics (01.01.1999)
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Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23
Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Järvelä, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E.
Published in Human molecular genetics (01.04.1997)
Published in Human molecular genetics (01.04.1997)
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Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates
Jeganathan, D, Chodhari, R, Meeks, M, Færoe, O, Smyth, D, Nielsen, K, Amirav, I, Luder, A S, Bisgaard, H, Gardiner, R M, Chung, E M K, Mitchison, H M
Published in Journal of medical genetics (01.03.2004)
Published in Journal of medical genetics (01.03.2004)
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Genome search for susceptibility loci of common idiopathic generalised epilepsies
SANDER, T, SCHULZ, H, VILLE, D, CIEUTA, C, PICARD, F, PRUD'HOMME, J.-F, BATE, L, SUNDQUIST, A, GARDINER, R. M, JANSSEN, G. A. M. A. J, DE HAAN, G.-J, KASTELEIJN-NOLST-TRENITE, D. G. A, SAAR, K, BADER, A, LINDHOUT, D, RIESS, O, WIENKER, T. F, JANZ, D, REIS, A, GENNARO, E, RIGGIO, M. C, BIANCHI, A, ZARA, F, LUNA, D, BULTEAU, C, KAMINSKA, A
Published in Human molecular genetics (12.06.2000)
Published in Human molecular genetics (12.06.2000)
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Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q
Elmslie, Frances V., Rees, Michele, Williamson, Magali P., Kerr, Michael, Kjeldsen, Marianne J., An Pang, Kiang, Sundqvist, Anders, Friis, Mögens L., Chadwick, David, Richens, Alan, Covanis, Athanasios, Santos, Manuela, Arzimanoglou, Alexis, Panayiotopoulos, Chrysostomos P., Curtis, David, Whitehouse, William P., Gardiner, R. Mark
Published in Human molecular genetics (01.08.1997)
Published in Human molecular genetics (01.08.1997)
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Journal Article
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24
STRAUTNIEKS, S. S, KAGALWALLA, A. F, TANNER, M. S, KNISELY, A. S, BULL, L, FREIMER, N, KOCOSHIS, S. A, GARDINER, R. M, THOMPSON, R. J
Published in American journal of human genetics (01.09.1997)
Published in American journal of human genetics (01.09.1997)
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Journal Article
A locus for primary ciliary dyskinesia maps to chromosome 19q
Meeks, M, Walne, A, Spiden, S, Simpson, H, Mussaffi-Georgy, H, Hamam, H D, Fehaid, E L, Cheehab, M, Al-Dabbagh, M, Polak-Charcon, S, Blau, H, O'Rawe, A, Mitchison, H M, Gardiner, R M, Chung, E
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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Journal Article
Spectrum of Mutations in the Batten Disease Gene, CLN3
Munroe, Patricia B., Mitchison, Hannah M., O'Rawe, Angela M., Anderson, John W., Boustany, Rose-Mary, Lerner, Terry J., Taschner, Peter E.M., Vos, Nanneke de, Breuning, Martijn H., Gardiner, R. Mark, Mole, Sara E.
Published in American journal of human genetics (01.08.1997)
Published in American journal of human genetics (01.08.1997)
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Journal Article
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
Lauronen, L, Munroe, P B, Järvelä, I, Autti, T, Mitchison, H M, O'Rawe, A M, Gardiner, R M, Mole, S E, Puranen, J, Häkkinen, A M, Kirveskari, E, Santavuori, P
Published in Neurology (15.01.1999)
Published in Neurology (15.01.1999)
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
Blouin, J L, Meeks, M, Radhakrishna, U, Sainsbury, A, Gehring, C, Saïl, G D, Bartoloni, L, Dombi, V, O'Rawe, A, Walne, A, Chung, E, Afzelius, B A, Armengot, M, Jorissen, M, Schidlow, D V, van Maldergem, L, Walt, H, Gardiner, R M, Probst, D, Guerne, P A, Delozier-Blanchet, C D, Antonarakis, S E
Published in European journal of human genetics : EJHG (01.02.2000)
Published in European journal of human genetics : EJHG (01.02.2000)
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Journal Article
Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy : no evidence for an epilepsy locus in the HLA region
WHITEHOUSE, W. P, REES, M, CURTIS, D, SUNDQVIST, A, PARKER, K, CHUNG, E, BARALLE, D, GARDINER, R. M
Published in American journal of human genetics (01.09.1993)
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Published in American journal of human genetics (01.09.1993)
Journal Article
Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits
Mitchison, Hannah M., Hofmann, Sandra L., Becerra, Carlos H. R., Munroe, Patricia B., Lake, Brian D., Crow, Yanick J., Stephenson, John B. P., Williams, Ruth E., Hofman, Irene L., Taschner, Peter E. M., Martin, Jean-Jacques, Philippart, Michel, Andermann, Eva, Andermann, Frederick, Mole, Sara E., Gardiner, R. Mark, O'Rawe, Angela M.
Published in Human molecular genetics (01.02.1998)
Published in Human molecular genetics (01.02.1998)
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Journal Article
Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region
ELMSLIE, F. V, WILLIAMSON, M. P, WHITEHOUSE, W. P, GARDINER, R. M, REES, M, KERR, M, KJELDSEN, M. J, PANG, K. A, SUNDQVIST, A, FRIIS, M. L, RICHENS, A, CHADWICK, D
Published in American journal of human genetics (01.09.1996)
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Published in American journal of human genetics (01.09.1996)
Journal Article
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures
Windemuth, C, Schulz, H, Saar, K, Gennaro, E, Bianchi, A, Zara, F, Bulteau, C, Kaminska, A, Ville, D, Cieuta, C, Nabbout-Tarantino, R, Prud'homme, J.-F, Dulac, O, Bate, L, Gardiner, R.M, Lindhout, D, Wienker, T.F, Janz, D, Sander, T
Published in Epilepsy research (01.09.2002)
Published in Epilepsy research (01.09.2002)
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Journal Article
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
Elmslie, F V, Hutchings, S M, Spencer, V, Curtis, A, Covanis, T, Gardiner, R M, Rees, M
Published in Journal of medical genetics (01.05.1996)
Published in Journal of medical genetics (01.05.1996)
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Journal Article
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)
MAITI, A. K, BARTOLONI, L, GARDINER, R. M, ANTONARAKIS, S. E, MITCHISON, H. M, MEEKS, M, CHUNG, E, SPIDEN, S, GEHRIG, C, ROSSIER, C, DELOZIER-BLANCHET, C. D, BLOUIN, J.-L
Published in Cytogenetic and genome research (01.01.2000)
Published in Cytogenetic and genome research (01.01.2000)
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Journal Article
Localisation of Pseudohypoaldosteronism Genes to Chromosome 16p12.2–13.11 and 12p13.1-Pter by Homozygosity Mapping
Strautnieks, Sandra S., Thompson, Richard J., Hanukoglu, Aaron, Dillon, Michael J., Hanukoglu, Israel, Kuhnle, Ursula, Seckl, Jonathan, Gardiner, R. Mark, Chung, Eddie
Published in Human molecular genetics (01.02.1996)
Published in Human molecular genetics (01.02.1996)
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