Anna Diaz-Font - Publications

Affiliations: 
Department of Genetics, Microbiology and Statistics Universitat de Barcelona, Barcelona, Cataluña, Spain 

10 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2013 Hernandez-Hernandez V, Pravincumar P, Diaz-Font A, May-Simera H, Jenkins D, Knight M, Beales PL. Bardet-biedl syndrome proteins control the cilia length through regulation of actin polymerization Human Molecular Genetics. 22: 3858-3868. PMID 23716571 DOI: 10.1093/hmg/ddt241  0.88
2011 Rooryck C, Diaz-Font A, Osborn DPS, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome Nature Genetics. 43: 197-203. PMID 21258343 DOI: 10.1038/ng.757  0.88
2010 Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. Journal of Medical Genetics. 47: 262-7. PMID 19797195 DOI: 10.1136/Jmg.2009.071365  0.88
2009 Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41: 739-45. PMID 19430481 DOI: 10.1038/Ng.366  0.88
2008 Diaz-Font A, Beales PL. How to shape cells and influence polarized protein trafficking. Developmental Cell. 15: 799-800. PMID 19081069 DOI: 10.1016/j.devcel.2008.11.012  0.88
2008 Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40: 443-8. PMID 18327255 DOI: 10.1038/ng.97  0.88
2008 Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (Nature Genetics (2008) 40, (443-448)) Nature Genetics. 40: 927. DOI: 10.1038/ng0708-927b  0.88
2006 Diaz-Font A, Chabás A, Grinberg D, Vilageliu L. RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases. Blood Cells, Molecules & Diseases. 37: 197-203. PMID 16959503 DOI: 10.1016/J.Bcmd.2006.07.002  0.88
2005 Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Human Genetics. 117: 275-7. PMID 15856305 DOI: 10.1007/S00439-005-1288-X  0.88
2003 Diaz-Font A, Cormand B, Chabás A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells, Molecules & Diseases. 31: 183-6. PMID 12972023 DOI: 10.1016/S1079-9796(03)00157-8  0.88
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