Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Adrian MC"'
Autor:
Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes, Alice M. George, Donald R. Love
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with b
Externí odkaz:
https://doaj.org/article/828080e7bf57431289d3caffc7408dbc
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome
Externí odkaz:
https://doaj.org/article/173d7cabf7524d85b11685a367b7f11c
Autor:
Leah Te Weehi, Raj Maikoo, Adrian Mc Cormack, Roberto Mazzaschi, Fern Ashton, Liangtao Zhang, Alice M. George, Donald R. Love
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Seve
Externí odkaz:
https://doaj.org/article/9516a51144e24ca2a547f5f89e4a9318
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioura
Externí odkaz:
https://doaj.org/article/a41d2c0f0f4f4b10aa125a2cab959a86
Autor:
Ellen Kampman, Arve Ulvik, Dieuwertje E Kok, Per Magne Ueland, Adrian McCann, Lisanne Renting, Nienke R K Zwart, Henk K van Halteren, Floor J E Lubberman, Renate M Winkels
Publikováno v:
BMJ Oncology, Vol 3, Iss 1 (2024)
Objective Chronic chemotherapy-induced peripheral neuropathy (CIPN) is a long-lasting side-effect of oxaliplatin. Vitamin B6 might play a role in the pathogenesis of CIPN. Therefore, we investigated associations between plasma vitamin B6 markers and
Externí odkaz:
https://doaj.org/article/6e7bf176684c42bf8669fe9db0bd4b2b
Autor:
Sajan C. Raju, Antonio Molinaro, Ayodeji Awoyemi, Silje F. Jørgensen, Peder R. Braadland, Andraz Nendl, Ingebjørg Seljeflot, Per M. Ueland, Adrian McCann, Pål Aukrust, Beate Vestad, Cristiane Mayerhofer, Kaspar Broch, Lars Gullestad, Knut T. Lappegård, Bente Halvorsen, Karsten Kristiansen, Johannes R. Hov, Marius Trøseid
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Interactions between the gut microbiota, diet, and host metabolism contribute to the development of cardiovascular disease, but a firm link between disease-specific gut microbiota alterations and circulating metabolites is lacking
Externí odkaz:
https://doaj.org/article/61d1247a5e1f4aefba1ffb6bb0b763c7
Autor:
Lisa M. D. Grymyr, Gunnar Mellgren, Adrian McCann, Eva Gerdts, Klaus Meyer, Saied Nadirpour, Johan Fernø, Bjørn G. Nedrebø, Dana Cramariuc
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract A large proportion of patients with severe obesity remain with left ventricular (LV) dysfunction after bariatric surgery. We assessed whether preoperative evaluation by echocardiography and inflammatory proteins can identify this high-risk g
Externí odkaz:
https://doaj.org/article/99f7d12fe60e4a4fbf492787ff2535d0
Autor:
Mira Thing, Mikkel Parsberg Werge, Nina Kimer, Liv Eline Hetland, Elias Badal Rashu, Puria Nabilou, Anders Ellekaer Junker, Elisabeth Douglas Galsgaard, Flemming Bendtsen, Johnny Laupsa-Borge, Adrian McCann, Lise Lotte Gluud
Publikováno v:
BMC Gastroenterology, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Background Alterations in the production of short-chain fatty acids (SCFAs) may reflect disturbances in the gut microbiota and have been linked to metabolic dysfunction-associated steatotic liver disease (MASLD). We assessed plasma SCFAs in
Externí odkaz:
https://doaj.org/article/011417fdb1124f8383c726d628e38b21
Autor:
Thomas Holder, Sreenidhi Srinivasan, Adrian McGoldrick, Gareth A. Williams, Simonette Palmer, John Clarke, Amanda O’Brien, Andrew J. K. Conlan, Nick Juleff, H. Martin Vordermeier, Gareth J. Jones, Vivek Kapur
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Bovine tuberculosis is an infectious disease of global significance that remains endemic in many countries. Mycobacterium bovis infection in cattle is characterized by a cell-mediated immune response (CMI) that precedes humoral responses, ho
Externí odkaz:
https://doaj.org/article/f1cfeaf6dbea4432aaba9cdc2211aa49
Autor:
Cormack, Adrian Mc1, Claxton, Karen1, Ashton, Fern1, Asquith, Philip1, Atack, Edward1, Mazzaschi, Roberto1, Moverley, Paula1,2, O'Connor, Rachel1, Qorri, Methat1, Sheath, Karen1, Love, Donald R.1, George, Alice M.1 aliceg@adhb.govt.nz
Publikováno v:
Molecular Cytogenetics (17558166). 3/31/2016, Vol. 9, p1-7. 7p.