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Results: 1-22 |
Results: 22
Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis
Authors: Lehesjoki, AE Reed, VA Gardiner, RM Greene, NDE
Citation: Ae. Lehesjoki et al., Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis, MECH DEVEL, 108(1-2), 2001, pp. 221-225
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia
Authors: Bartoloni, L Blouin, JL Maiti, AK Sainsbury, A Rossier, C Gehrig, C She, JX Marron, MP Lander, ES Meeks, M Chung, E Armengot, M Jorissen, M Scott, HS Delozier-Blanchet, CD Gardiner, RM Antonarakis, SE
Citation: L. Bartoloni et al., Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia, GENOMICS, 72(1), 2001, pp. 21-33
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells
Authors: Barclay, J Balaguero, N Mione, M Ackerman, SL Letts, VA Brodbeck, J Canti, C Meir, A Page, KM Kusumi, K Perez-Reyes, E Lander, ES Frankel, WN Gardiner, RM Dolphin, AC Rees, M
Citation: J. Barclay et al., Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells, J NEUROSC, 21(16), 2001, pp. 6095-6104
The molecular genetic basis of the neuronal ceroid lipofuscinoses
Authors: Gardiner, RM
Citation: Rm. Gardiner, The molecular genetic basis of the neuronal ceroid lipofuscinoses, NEUROL SCI, 21(3), 2000, pp. S15-S19
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
Authors: Blouin, JL Meeks, M Radhakrishna, U Sainsbury, A Gehring, C Sail, GD Bartoloni, L Dombi, V O'Rawe, A Walne, A Chung, E Afzelius, BA Armengot, M Jorissen, M Schidlow, DV van Maldergem, L Walt, H Gardiner, RM Probst, D Guerne, PA Delozier-Blanchet, CD Antonarakis, SE
Citation: Jl. Blouin et al., Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity, EUR J HUM G, 8(2), 2000, pp. 109-118
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999)
Authors: Mitchison, HM Bernard, DJ Greene, NDE Cooper, JD Junaid, MA Pullarkat, RK de Vos, N Breuning, MH Owens, JW Mobley, WC Gardiner, RM Lake, BD Taschner, PEM Nussbaum, RL
Citation: Hm. Mitchison et al., Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999), NEUROBIOL D, 7(2), 2000, pp. 127-127
Genome search for susceptibility loci of common idiopathic generalised epilepsies
Authors: Sander, T Schulz, H Saar, K Gennaro, E Riggio, MC Bianchi, A Zara, F Luna, D Bulteau, C Kaminska, A Ville, D Cieuta, C Picard, F Prud'homme, JF Bate, L Sundquist, A Gardiner, RM Janssen, GAMAJ de Haan, GJ Kasteleijn-Nolst-Trenite, DGA Bader, A Lindhout, D Riess, O Wienker, TF Janz, D Reis, A
Citation: T. Sander et al., Genome search for susceptibility loci of common idiopathic generalised epilepsies, HUM MOL GEN, 9(10), 2000, pp. 1465-1472
Genetics of disease - Away from the beaten track - Editorial overview
Authors: Lehesjoki, AE Gardiner, RM
Citation: Ae. Lehesjoki et Rm. Gardiner, Genetics of disease - Away from the beaten track - Editorial overview, CUR OP GEN, 10(3), 2000, pp. 247-251
Impact of our understanding of the genetic aetiology of epilepsy
Authors: Gardiner, RM
Citation: Rm. Gardiner, Impact of our understanding of the genetic aetiology of epilepsy, J NEUROL, 247(5), 2000, pp. 327-334
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)
Authors: Maiti, AK Bartoloni, L Mitchison, HM Meeks, M Chung, E Spiden, S Gehrig, C Rossier, C DeLozier-Blanchet, CD Blouin, JL Gardiner, RM Antonarakis, SE
Citation: Ak. Maiti et al., No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD), CYTOG C GEN, 90(1-2), 2000, pp. 119-122
A locus for primary ciliary dyskinesia maps to chromosome 19q
Authors: Meeks, M Walne, A Spiden, S Simpson, H Mussaffi-Georgy, H Hamam, HD Fehaid, EL Cheehab, M Al-Dabbagh, M Polak-Charcon, S Blau, H O'Rawe, A Mitchison, HM Gardiner, RM Chung, E
Citation: M. Meeks et al., A locus for primary ciliary dyskinesia maps to chromosome 19q, J MED GENET, 37(4), 2000, pp. 241-244
A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999)
Authors: Greene, NDE Bernard, DL Taschner, PEM Lake, BD de Vos, N Breuning, MH Gardiner, RM Mole, SE Nussbaum, RL Mitchison, HM
Citation: Nde. Greene et al., A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999), MOL GEN MET, 67(4), 1999, pp. 368-368
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland
Authors: Stephenson, JBP Greene, NDE Leung, KY Munroe, PB Mole, SE Gardiner, RM Taschner, PEM O'Regan, M Naismith, K Crow, YJ Mitchison, HM
Citation: Jbp. Stephenson et al., The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland, MOL GEN MET, 66(4), 1999, pp. 245-247
A murine model for juvenile NCL: Gene targeting of mouse Cln3
Authors: Greene, NDE Bernard, DL Taschner, PEM Lake, BD de Vos, N Breuning, MH Gardiner, RM Mole, SE Nussbaum, RL Mitchison, HM
Citation: Nde. Greene et al., A murine model for juvenile NCL: Gene targeting of mouse Cln3, MOL GEN MET, 66(4), 1999, pp. 309-313
Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23
Authors: Sharp, JD Wheeler, RB Lake, BD Fox, M Gardiner, RM Williams, RE
Citation: Jd. Sharp et al., Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23, MOL GEN MET, 66(4), 1999, pp. 329-331
A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7
Authors: Wheeler, RB Sharp, JD Mitchell, WA Bate, SL Williams, RE Lake, BD Gardiner, RM
Citation: Rb. Wheeler et al., A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7, MOL GEN MET, 66(4), 1999, pp. 337-338
The European Concerted Action NCL Clinical Case Registry
Authors: Williams, RE Gardiner, RM Goebel, HH
Citation: Re. Williams et al., The European Concerted Action NCL Clinical Case Registry, MOL GEN MET, 66(4), 1999, pp. 407-408
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
Authors: Munroe, PB Olgunturk, RO Fryns, JP Van Maldergem, L Ziereisen, F Yuksel, B Gardiner, RM Chung, E
Citation: Pb. Munroe et al., Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome, NAT GENET, 21(1), 1999, pp. 142-144
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease
Authors: Mitchison, HM Bernard, DJ Greene, NDE Cooper, JD Junaid, MA Pullarkat, RK de Vos, N Breuning, MH Owens, JW Mobley, WC Gardiner, RM Lake, BD Taschner, PEM Nussbaum, RL
Citation: Hm. Mitchison et al., Targeted disruption of the Cln3 gene provides a mouse model for Batten disease, NEUROBIOL D, 6(5), 1999, pp. 321-334
Outlook into the next decade
Authors: Gardiner, RM Mole, SE Goebel, HH
Citation: Rm. Gardiner et al., Outlook into the next decade, BIOM HLTH R, 33, 1999, pp. 170-172
Genetic basis of the human epilepsies
Authors: Gardiner, RM
Citation: Rm. Gardiner, Genetic basis of the human epilepsies, EPILEPSY R, 36(2-3), 1999, pp. 91-95
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
Authors: Lauronen, L Munroe, PB Jarvela, I Autti, T Mitchison, HM O'Rawe, AM Gardiner, RM Mole, SE Puranen, J Hakkinen, AM Kirveskari, E Santavuori, P
Citation: L. Lauronen et al., Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis, NEUROLOGY, 52(2), 1999, pp. 360-365
Risultati: 1-22 |