Zobrazeno 1 - 10
of 38
pro vyhledávání: '"H. H. M. Dahl"'
Autor:
Karen B. Avraham, Moien Kanaan, Araceli Álvarez, F Moreno, F J del Castillo, Alessandra Murgia, C. A. M. de Oliveira, Walter E. Nance, Kirby Siemering, Luis A. Aguirre, Hashem Shahin, Sandrine Marlin, Dominique Weil, Montserrat Rodríguez-Ballesteros, Edi Lúcia Sartorato, G. Van Camp, Hela Azaiez, Zippora Brownstein, Christine Petit, Y. Martin, Richard J.H. Smith, Hutchin Tp, M A Moreno-Pelayo, I del Castillo, Wim Wuyts, Emanuela Leonardi, Arti Pandya, Matthew R. Avenarius, H.-H. M. Dahl, Manuela Villamar
Publikováno v:
Journal of medical genetics
Hearing impairment is a common and highly heterogeneous sensory disorder. Genetic causes are thought to be responsible for more than 60% of the cases in developed countries.1 In the majority of cases, non-syndromic hearing impairment is inherited in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b72c275793b87a9ba255fe3013e8f7
https://doi.org/10.1136/jmg.2004.028324
https://doi.org/10.1136/jmg.2004.028324
Autor:
I. Biros, Sara Shanske, Salvatore Di Mauro, H.-H. M. Dahl, Sarah L. White, David R. Thorburn, Linda Warwick
Publikováno v:
Prenatal Diagnosis. 19:1165-1168
We report the outcome of two prenatal analyses for the T to G mutation at nucleotide 8993 in the mitochondrial DNA. This mutation is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and the neurodegenerative conditio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ea01c14a94481702911c4c36f03b9a7
https://doi.org/10.1002/(sici)1097-0223(199912)19:12<1165::aid-pd719>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199912)19:12<1165::aid-pd719>3.0.co
Autor:
H.-H. M. Dahl, David R. Thorburn, Shamima Rahman, David M. Danks, John Christodoulou, R. B. Blok, Chung Wo Chow, Denise M. Kirby
Publikováno v:
Annals of Neurology. 39:343-351
We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features. Biochemical or DNA defects were determined in both groups, ie, 80% in the tightly defined group and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f67ff776c66363a510f50e6ab3fbed
https://doi.org/10.1002/ana.410390311
https://doi.org/10.1002/ana.410390311
Autor:
H.-H. M. Dahl, G. K. Brown
Publikováno v:
Human Mutation. 3:152-155
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db3fa6347354a19dda731e4f4e5c8b8
https://doi.org/10.1002/humu.1380030210
https://doi.org/10.1002/humu.1380030210
Autor:
Sharon Lewis, Dominic Thyagarajan, Wendy M. Hutchison, Rosetta Marotta, Lisa Di Nezza, H.-H. M. Dahl
Publikováno v:
FEBS Letters. 500:183-185
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::792e14c9f0de80b97c011f44426a89b5
https://doi.org/10.1016/s0014-5793(01)02612-6
https://doi.org/10.1016/s0014-5793(01)02612-6
Autor:
H.-H. M. Dahl, David R. Thorburn
Publikováno v:
American Journal of Medical Genetics. 106:1-3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37089b07ef7a65da051f49ea44e80fbc
https://doi.org/10.1002/ajmg.1427
https://doi.org/10.1002/ajmg.1427
Publikováno v:
Journal of Inherited Metabolic Disease. 15:835-847
Three female patients are described with pyruvate dehydrogenase (PDH) deficiency as a result of mutation in the X-linked gene for the E1 alpha subunit of the complex. Two of these patients illustrate typical presentations of PDH E1 alpha deficiency,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b5dbb26197c951529ece9d58f33fd2
https://doi.org/10.1007/bf01800219
https://doi.org/10.1007/bf01800219
Autor:
Terence P. Speed, Woo Jin Park, Mauro Delorenzi, Alex Gout, Daeho Park, Ester Ballana, Rohan D. Teasdale, Xavier Estivill, Kelly Hanson, David Kwong, Michael B. Petersen, Qingyu Wu, Richard J.H. Smith, Ping Cannon, Michel Guipponi, Justin Tan, H.-H. M. Dahl, Hamish S. Scott, Min-Yen Toh
Publikováno v:
Human Mutation, Vol. 29, No 1 (2008) pp. 130-141
Building on our discovery that mutations in the transmembrane serine protease, TMPRSS3, cause nonsyndromic deafness, we have investigated the contribution of other TMPRSS family members to the auditory function. To identify which of the 16 known TMPR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0eb5fb85c3d2f5d6f93454ca4b18e8b
https://archive-ouverte.unige.ch/unige:19112
https://archive-ouverte.unige.ch/unige:19112
Publikováno v:
Genomics. 8:225-232
The pyruvate dehydrogenase (PDH) complex converts pyruvate to acetyl CoA, an essential step in aerobic glucose metabolism. We have previously shown that the gene for the E1 alpha subunit of this complex, expressed in somatic tissues, is located on ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e6130d69f0b22c89de7ea1193510cb
https://doi.org/10.1016/0888-7543(90)90275-y
https://doi.org/10.1016/0888-7543(90)90275-y
Publikováno v:
Journal of Inherited Metabolic Disease. 14:140-151
The human pyruvate dehydrogenase complex catalyses the oxidative decarboxylation of pyruvate to acetyl-CoA. Defects in several of the seven subunits have been reported, but the majority of mutations affect the E1 component and especially the E1 alpha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca6e58f5c3591aeaebbd595fc8ea010
https://doi.org/10.1007/bf01800586
https://doi.org/10.1007/bf01800586