Bibliotecas PUC-SP - Busca Integrada

The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift

Wonnapinij, Passorn, Chinnery, Patrick F., Samuels, David C.
Հրապարակվել է 2008

Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood

Rajasimha, Harsha Karur, Chinnery, Patrick F., Samuels, David C.
Հրապարակվել է 2008

Associating Mitochondrial DNA Variation with Complex Traits

Elson, Joanna L. , Majamaa, Kari , Howell, Neil , Chinnery, Patrick F. 
Հրապարակվել է 2007

The Power to Detect Disease Associations with Mitochondrial DNA Haplogroups

Samuels, David C., Carothers, Andrew D., Horton, Robin, Chinnery, Patrick F.
Հրապարակվել է 2006

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy

Hudson, Gavin, Yu-Wai-Man, Patrick, Zeviani, Massimo, Chinnery, Patrick F.
Հրապարակվել է 2009

Normal Levels of Wild-Type Mitochondrial DNA Maintain Cytochrome c Oxidase Activity for Two Pathogenic Mitochondrial DNA Mutations but Not for m.3243A→G

Durham, Steve E. , Samuels, David C. , Cree, Lynsey M. , Chinnery, Patrick F. 
Հրապարակվել է 2007

A compositional segmentation of the human mitochondrial genome is related to heterogeneities in the guanine mutation rate

Samuels, David C., Boys, Richard J., Henderson, Daniel A., Chinnery, Patrick F.
Հրապարակվել է 2003

A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians

Ressiniotis, Thomas, Griffiths, Philip G, Keers, Sharon M, Chinnery, Patrick F, Birch, Michael
Հրապարակվել է 2005

A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians

Keers Sharon M, Griffiths Philip G, Ressiniotis Thomas, Chinnery Patrick F, Birch Michael
Հրատարակված է BMC Ophthalmology (2005-04-01)

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

Elliott, Hannah R., Samuels, David C., Eden, James A., Relton, Caroline L., Chinnery, Patrick F.
Հրապարակվել է 2008

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

Devos, David, Tchofo, P. Jissendi, Vuillaume, Isabelle, Destée, Alain, Batey, Stephanie, Burn, John, Chinnery, Patrick F.
Հրապարակվել է 2009

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation

Pyle, Angela, Taylor, Robert W, Durham, Steve E, Deschauer, Marcus, Schaefer, Andrew M, Samuels, David C, Chinnery, Patrick F
Հրապարակվել է 2007

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation

McNeill, Alisdair, Birchall, Daniel, Straub, Volker, Goldfarb, Lev, Reilich, Peter, Walter, Maggie C., Schramm, Nicolai, Lochmüller, Hanns, Chinnery, Patrick F.
Հրապարակվել է 2009

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

He, Langping, Chinnery, Patrick F., Durham, Steve E., Blakely, Emma L., Wardell, Theresa M., Borthwick, Gillian M., Taylor, Robert W., Turnbull, Douglass M.
Հրապարակվել է 2002

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Longley, Matthew J., Clark, Susanna, Yu Wai Man, Cynthia, Hudson, Gavin, Durham, Steve E., Taylor, Robert W., Nightingale, Simon, Turnbull, Douglass M., Copeland, William C., Chinnery, Patrick F.
Հրապարակվել է 2006

Mitochondrial DNA mutations in human colonic crypt stem cells

Taylor, Robert W., Barron, Martin J., Borthwick, Gillian M., Gospel, Amy, Chinnery, Patrick F., Samuels, David C., Taylor, Geoffrey A., Plusa, Stefan M., Needham, Stephanie J., Greaves, Laura C., Kirkwood, Thomas B.L., Turnbull, Douglass M.
Հրապարակվել է 2003

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

Hudson, Gavin, Keers, Sharon, Man, Patrick Yu Wai, Griffiths, Philip, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Zeviani, Massimo, Carrara, Franco, Horvath, Rita, Karcagi, Veronika, Spruijt, Liesbeth, Coo, I. F. M. de, Smeets, Hubert J. M., Chinnery, Patrick F.
Հրապարակվել է 2005

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Shatunov, Alexey, Olivé, Montse, Odgerel, Zagaa, Stadelmann-Nessler, Christine, Irlbacher, Kerstin, van Landeghem, Frank, Bayarsaikhan, Munkhuu, Lee, Hee-Suk, Goudeau, Bertrand, Chinnery, Patrick F, Straub, Volker, Hilton-Jones, David, Damian, Maxwell S, Kaminska, Anna, Vicart, Patrick, Bushby, Kate, Dalakas, Marinos C, Sambuughin, Nyamkhishig, Ferrer, Isidro, Goebel, Hans H, Goldfarb, Lev G
Հրապարակվել է 2009

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Hudson, Gavin , Carelli, Valerio , Spruijt, Liesbeth , Gerards, Mike , Mowbray, Catherine , Achilli, Alessandro , Pyle, Angela , Elson, Joanna , Howell, Neil , La Morgia, Chiara , Valentino, Maria Lucia , Huoponen, Kirsi , Savontaus, Marja-Liisa , Nikoskelainen, Eeva , Sadun, Alfredo A. , Salomao, Solange R. , Belfort Jr., Rubens , Griffiths, Philip , Man, Patrick Yu Wai , de Coo, Rene F. M. , Horvath, Rita , Zeviani, Massimo , Smeets, Hubert J. T. , Torroni, Antonio , Chinnery, Patrick F. 
Հրապարակվել է 2007

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Հրապարակվել է 2009