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Results: 1-19 |
Results: 19
Mutations at the mitochondrial DNA polymerase (POLG) locus associated withmale infertility
Authors: Rovio, AT Marchington, DR Donat, S Schuppe, HC Abe, J Fritsche, E Elliott, DJ Laippala, P Ahola, AL McNay, D Harrison, RF Hughes, B Barrett, T Bailey, DMD Mehmet, D Jequier, AM Hargreave, TB Kao, SH Cummins, JM Barton, DE Cooke, HJ Wei, YH Wichmann, L Poulton, J Jacobs, HT
Citation: At. Rovio et al., Mutations at the mitochondrial DNA polymerase (POLG) locus associated withmale infertility, NAT GENET, 29(3), 2001, pp. 261-262
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001)
Authors: Spelbrink, JN Li, FY Tiranti, V Nikali, K Yuan, QP Tariq, M Wanrooij, S Garrido, N Comi, G Morandi, L Santoro, L Toscano, A Fabrizi, GM Somer, H Croxen, R Beeson, D Poulton, J Suomalainen, A Jacobs, HT Zeviani, M Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001), NAT GENET, 29(1), 2001, pp. 100-100
A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations
Authors: Khogali, SS Mayosi, BM Beattie, JM McKenna, WJ Watkins, H Poulton, J
Citation: Ss. Khogali et al., A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations, LANCET, 357(9264), 2001, pp. 1265-1267
Decrease of 3243 A -> G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
Authors: Rahman, S Poulton, J Marchington, D Suomalainen, A
Citation: S. Rahman et al., Decrease of 3243 A -> G mtDNA mutation from blood in MELAS syndrome: A longitudinal study, AM J HU GEN, 68(1), 2001, pp. 238-240
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states
Authors: Kajander, OA Rovio, AT Majamaa, K Poulton, J Spelbrink, JN Holt, IJ Karhunen, PJ Jacobs, HT
Citation: Oa. Kajander et al., Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states, HUM MOL GEN, 9(19), 2000, pp. 2821-2835
Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases
Authors: Poulton, J Marchington, DR
Citation: J. Poulton et Dr. Marchington, Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases, NEUROMUSC D, 10(7), 2000, pp. 484-487
The mitochondrial genome in Wolfram syndrome
Authors: Barrett, TG Scott-Brown, M Seller, A Bednarz, A Poulton, K Poulton, J
Citation: Tg. Barrett et al., The mitochondrial genome in Wolfram syndrome, J MED GENET, 37(6), 2000, pp. 463-466
The dangers of extended PCR in the clinic
Authors: Kajander, OA Poulton, J Spelbrink, JN Rovio, A Karhunen, PJ Jacobs, HT
Citation: Oa. Kajander et al., The dangers of extended PCR in the clinic, NAT MED, 5(9), 1999, pp. 965-966
Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease
Authors: Marchington, DR Barlow, D Poulton, J
Citation: Dr. Marchington et al., Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease, NAT MED, 5(8), 1999, pp. 957-960
The insulin gene VNTR, type 2 diabetes and birth weight
Authors: Ong, KKL Phillips, DI Fall, C Poulton, J Bennett, ST Golding, J Todd, JA Dunger, DB
Citation: Kkl. Ong et al., The insulin gene VNTR, type 2 diabetes and birth weight, NAT GENET, 21(3), 1999, pp. 262-263
3,3-V CMOS pre-equalization VCSEL transmitter for gigabit multimode fiber links
Authors: Bruensteiner, M Papen, GC Poulton, J Tell, S Palmer, R Giboney, K Dolfi, D Corzine, S
Citation: M. Bruensteiner et al., 3,3-V CMOS pre-equalization VCSEL transmitter for gigabit multimode fiber links, IEEE PHOTON, 11(10), 1999, pp. 1301-1303
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals
Authors: Rovio, A Tiranti, V Bednarz, AL Suomalainen, A Spelbrink, JN Lecrenier, N Melberg, A Zeviani, M Poulton, J Foury, F Jacobs, HT
Citation: A. Rovio et al., Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals, EUR J HUM G, 7(2), 1999, pp. 140-146
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome
Authors: Naviaux, RK Nyhan, WL Barshop, BA Poulton, J Markusic, D Karpinski, NC Haas, RH
Citation: Rk. Naviaux et al., Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome, ANN NEUROL, 45(1), 1999, pp. 54-58
HIV-1 therapy and fetal mitochondrial dysfunction
Authors: Poulton, J Lyall, H Taylor, G Williams, GT
Citation: J. Poulton et al., HIV-1 therapy and fetal mitochondrial dysfunction, LANCET, 354(9195), 1999, pp. 2081-2082
Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes
Authors: Casteels, K Ong, K Phillips, D Bendall, H Pembrey, M Poulton, J Dunger, D
Citation: K. Casteels et al., Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes, LANCET, 353(9163), 1999, pp. 1499-1500
Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A
Authors: Mercuri, E Poulton, J Buck, J Broadbent, V Bamford, M Jungbluth, H Manzur, AY Muntoni, F
Citation: E. Mercuri et al., Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A, ARCH DIS CH, 81(5), 1999, pp. 442-443
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
Authors: Hardy, C Khanim, F Torres, R Scott-Brown, M Seller, A Poulton, J Collier, D Kirk, J Polymeropoulos, M Latif, F Barrett, T
Citation: C. Hardy et al., Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1, AM J HU GEN, 65(5), 1999, pp. 1279-1290
Does a mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype? (vol 14, pg 387, 1998)
Authors: Poulton, J Marchington, DR Scott-Brown, M Phillips, DIW Hagelberg, E
Citation: J. Poulton et al., Does a mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype? (vol 14, pg 387, 1998), TRENDS GEN, 14(12), 1998, pp. 520-520
Genetic counseling and prenatal diagnosis for mtDNA disease - Reply
Authors: Poulton, J Marchington, D
Citation: J. Poulton et D. Marchington, Genetic counseling and prenatal diagnosis for mtDNA disease - Reply, AM J HU GEN, 63(6), 1998, pp. 1910-1911
Risultati: 1-19 |