Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Robert F. Mueller"'
Autor:
Natalie J. Prescott, Elizabeth Bentley, Paul Rutland, Brandon J. Wainwright, John Nelson, Bronwyn Kerr, Susan M. Darling, Vile Makela, Robert F. Mueller, Shalini Jadeja, Christine Francannet, Lesley M McGregor, Antonio Perez-Aytes, Emma Roberts, André Mégarbané, Jason Hopkins, Sofia Vrontou, Adrian S. Woolf, Alison Shaw, Nicole Philip, Nicola Smart, Robin M. Winter, Georges Chalepakis, Peter J. Scambler, Catherine Roberts
Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects(1). Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833c0b6f42fd08a3c2eba17bfad55cf0
https://ora.ox.ac.uk/objects/uuid:eb05386f-688d-4290-b079-8a0fb29df60f
https://ora.ox.ac.uk/objects/uuid:eb05386f-688d-4290-b079-8a0fb29df60f
Publikováno v:
American Journal of Medical Genetics Part A. :2110-2114
Cleft lip and palate is a common birth defect that has a complex etiology resulting from an interaction of genetic and environmental factors. Few genes are known to contribute to its etiology. CHARGE syndrome is a common multiple malformation syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21133ca9b074d43f022c12418a67a510
https://doi.org/10.1002/ajmg.a.31308
https://doi.org/10.1002/ajmg.a.31308
Autor:
E L Coghill, Maria Bitner-Glindzicz, N. N. Coy, H E Conlon, Robert F. Mueller, Tim P Hutchin, Elizabeth A.R. Telford, Sara J. Brown, Xue Zhong Liu, Diana C. Blaydon, Graham R. Taylor, K. Bromelow, Richard C. Trembath
Publikováno v:
Clinical Genetics. 68:506-512
Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1189a926aaac80596282fa5a91b1e3c
https://doi.org/10.1111/j.1399-0004.2005.00539.x
https://doi.org/10.1111/j.1399-0004.2005.00539.x
Autor:
Alan C. Bird, Bart Leroy, Shomi S. Bhattacharya, S Malcolm, TP Hutchin, Diana C. Blaydon, Robert F. Mueller, Maria Bitner-Glindzicz
Publikováno v:
Clinical Genetics. 63:303-307
Denaturing high-performance liquid chromatography (DHPLC) was used to screen 14 UK patients with Usher syndrome type 1, in order to assess the contribution of mutations in USH1C to type 1 Usher. In addition, 16 Caucasian sib pairs and two small consa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57a1a346087a204cf94975d551b071d4
https://doi.org/10.1034/j.1399-0004.2003.00058.x
https://doi.org/10.1034/j.1399-0004.2003.00058.x
Autor:
Glenn E. Green, Moien Kanaan, Robert F. Mueller, Edward S. Cohn, Karen B. Avraham, Richard J.H. Smith
Publikováno v:
Audiological Medicine. 1:5-11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::169bea84bc331a8f980988d1fc2f235d
https://doi.org/10.1080/16513860310003021
https://doi.org/10.1080/16513860310003021
Publikováno v:
Audiological Medicine. 1:12-20
The last few years have seen major advances in our understanding of the genetic causes of childhood onset hearing impairment. Twenty-eight separate non-syndromic recessive loci have been reported and already 12 of these genes have been identified. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a35191e7541bde3186ffe57aa8e99512
https://doi.org/10.1080/16513860310003030
https://doi.org/10.1080/16513860310003030
Publikováno v:
Clinical Genetics. 60:456-462
The frequently observed familial aggregation of Down syndrome (DS) 47,+21 and other aneuploidies and the phenomenon of double aneuploidy involving DS cannot be accounted for by chance alone. To clarify possible aetiological factors, pedigrees from al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ceb20995fcb98e7cc0313e6ca571acb7
https://doi.org/10.1034/j.1399-0004.2001.600609.x
https://doi.org/10.1034/j.1399-0004.2001.600609.x
Publikováno v:
Journal of Genetic Counseling. 10:121-131
Genetic testing for inherited deafness is now available within some genetics centres. This study used a structured questionnaire to assess the potential uptake of prenatal diagnosis (PND) for inherited deafness, and document the opinions of deaf and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c185d12339bc3528b6f18d61feb3e6
https://doi.org/10.1023/a:1009439630457
https://doi.org/10.1023/a:1009439630457
Autor:
Robert F. Mueller
Publikováno v:
Mine Water and the Environment. 20:17-29
Results from bench-scale tests for thallium remediation in mining-impacted water are presented and removal mechanisms are discussed. The source water consisted of surface runoff mixed with groundwater from an inactive gold mine in central Montana. Be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3c93c15882b5a2987e76077fe8ba3d7
https://doi.org/10.1007/s10230-001-8076-1
https://doi.org/10.1007/s10230-001-8076-1
Autor:
Maria Bitner-Glindzicz, Lucy A. Ellis, Mark J. Houseman, Graham R. Taylor, Alistair T. Pagnamenta, Hans-Henrik M. Dahl, Wei-Li Di, Robert F. Mueller, Sarah Rickard, David P. Kelsell, William Reardon, Amelia H. Osborn
Publikováno v:
Journal of Medical Genetics. 38:20-25
Mutations in the human gap junction β-2 gene (GJB2) that encodes connexin-26 have been shown to cause non-syndromic sensorineural hearing loss (NSSNHL) at the DFNB1 locus on 13q11. Functional and genetic data regarding the disease causing potential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6759f31d0be1a222eed8498fc1f2e97f
https://doi.org/10.1136/jmg.38.1.20
https://doi.org/10.1136/jmg.38.1.20