Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Gina Bonavita"'
Autor:
Lysette Mutkus, Gina Bonavita, Edward B. Blau, Ulrike A. Mau, Gabriel Núñez, Naohiro Inohara, Gerard Tromp, Charlene J. Williams, Helena Kuivaniemi, Xiaoju Wang
Publikováno v:
Arthritis & Rheumatism. 46:3041-3045
Objective To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions. Methods Linkage mapping was performed in 10 fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391f5a7028c4b8da38e2c578611eec91
https://doi.org/10.1002/art.10618
https://doi.org/10.1002/art.10618
Autor:
Lawrence M. Ryan, Adrian Pendleton, Antonio J. Reginato, Shelly Peariso, Daniel J. McCarty, Gina Bonavita, Charlene J. Williams, Michael Doherty, Anne E. Hughes
Publikováno v:
Williams, C J, Pendleton, A, Bonavita, G, Reginato, A J, Hughes, A, Peariso, S, Doherty, M, McCarty, D J & Ryan, L M 2003, ' Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease ' Arthritis and Rheumatism, vol. 48, no. 9, pp. 2627-2631 . DOI: 10.1002/art.11133
Objective To analyze ANKH in families with calcium pyrophosphate dihydrate crystal deposition disease (CPPD) for disease-causing mutations. Methods Two US families (one of British ancestry and the other of German/Swiss ancestry) with autosomal-domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b7f3ece18c0cf2b083863a9b4497b8b
https://pubmed.ncbi.nlm.nih.gov/13130483
https://pubmed.ncbi.nlm.nih.gov/13130483
Publikováno v:
BMC Genomics
BMC Genomics, Vol 3, Iss 1, p 24 (2002)
BMC Genomics, Vol 3, Iss 1, p 24 (2002)
Background The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hamp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f9b1c4797c9ec4ef16035b03c63fa16
https://doi.org/10.1186/1471-2164-3-24
https://doi.org/10.1186/1471-2164-3-24
Autor:
Y Jones, J Broxholme, Youming Zhang, F Caeiro, Andrew E. Timms, J Cuthbertson, Roslin Russell, R Marchegiani, Charlene J. Williams, Gina Bonavita, Matthew A. Brown, Antonio J. Reginato, Andrew Carr, B P Wordsworth
Publikováno v:
American journal of human genetics. 71(4)
Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5p15. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22a3eb452d1fed833fc470c057041e4
https://pubmed.ncbi.nlm.nih.gov/12297989
https://pubmed.ncbi.nlm.nih.gov/12297989
Autor:
Charlene J. Williams, Adrian Pendleton, Gina Bonavita, Antonio J. Reginato, Anne E. Hughes, Shelly Peariso, Michael Doherty, Daniel J. McCarty, Lawrence M. Ryan
Publikováno v:
Arthritis & Rheumatism; Sep2003, Vol. 48 Issue 9, p2627, 5p