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Results: 1-16 |
Results: 16
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss
Authors: Badenhop, RF Cherian, S Lord, RSA Baysal, BE Taschner, PEM Schofield, PR
Citation: Rf. Badenhop et al., Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss, GENE CHROM, 31(3), 2001, pp. 255-263
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
Authors: Taschner, PEM Jansen, JC Baysal, BE Bosch, A Rosenberg, EH Brocker-Vriends, AHJT van der Mey, AGL van Ommen, GJB Cornelisse, CJ Devilee, P
Citation: Pem. Taschner et al., Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene, GENE CHROM, 31(3), 2001, pp. 274-281
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-MbBAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region
Authors: Baysal, BE Willett-Brozick, JE Taschner, PEM Dauwerse, JG Devilee, P Devlin, B
Citation: Be. Baysal et al., A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-MbBAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region, EUR J HUM G, 9(2), 2001, pp. 121-129
Phenotypic dichotomy in mitochondrial complex II genetic disorders
Authors: Baysal, BE Rubinstein, WS Taschner, PEM
Citation: Be. Baysal et al., Phenotypic dichotomy in mitochondrial complex II genetic disorders, J MOL MED-J, 79(9), 2001, pp. 495-503
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
Authors: van Diggelen, OP Thobois, S Tilikete, C Zabot, MT Keulemans, JLM van Bunderen, PA Taschner, PEM Losekoot, M Voznyi, YV
Citation: Op. Van Diggelen et al., Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease, ANN NEUROL, 50(2), 2001, pp. 269-272
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis
Authors: Kleijer, WJ van Diggelen, OP Keulemans, JLM Losekoot, M Garritsen, VH Stroink, H Majoor-Krakauer, D Franken, PF Eurlings, MCM Taschner, PEM Los, FJ Galjaard, RJH
Citation: Wj. Kleijer et al., First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis, PRENAT DIAG, 21(2), 2001, pp. 99-101
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
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
Authors: Baysal, BE Ferrell, RE Willett-Brozick, JE Lawrence, EC Myssiorek, D Bosch, A van der Mey, A Taschner, PEM Rubinstein, WS Myers, EN Richard, CW Cornelisse, CJ Devilee, P Devlin, B
Citation: Be. Baysal et al., Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma, SCIENCE, 287(5454), 2000, pp. 848-851
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 heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands
Authors: Taschner, PEM Franken, PF van Berkel, L Breuning, MH
Citation: Pem. Taschner et al., Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands, MOL GEN MET, 66(4), 1999, pp. 339-343
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
Juvenile NCL
Authors: Hofman, I Kohlschutter, A Santavuori, P Gottlob, I Goebel, HH Lake, BD Schutgens, RBH Greene, NDE Leung, KY Mitchison, HM Munroe, PB Taschner, PEM
Citation: I. Hofman et al., Juvenile NCL, BIOM HLTH R, 33, 1999, pp. 55-76
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
Authors: de Vries, BBA Kleijer, WJ Keulemans, JLM Voznyi, YV Franken, PF Eurlings, MCM Galjaard, RJ Losekoot, M Catsman-Berrevoets, CE Breuning, MH Taschner, PEM van Diggelen, OP
Citation: Bba. De Vries et al., First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis, PRENAT DIAG, 19(6), 1999, pp. 559-562
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
Authors: Kohlhase, J Taschner, PEM Burfeind, P Pasche, B Newman, B Blanck, C Breuning, MH ten Kate, LP Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, SJ Pauli, RM Wargowski, DS Devriendt, K Proesmans, W Gabrielli, O Coppa, GV Wesby-van Swaay, E Trembath, RC Schinzel, AA Reardon, W Seemanova, E Engel, W
Citation: J. Kohlhase et al., Molecular analysis of SALL1 mutations in Townes-Brocks syndrome, AM J HU GEN, 64(2), 1999, pp. 435-445
Risultati: 1-16 |