Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database
Collod‐Béroud, Gwenaëlle, Le Bourdelles, Saga, Ades, Lesley, Ala‐Kokko, Leena, Booms, Patrick, Boxer, Maureen, Child, Anne, Comeglio, Paolo, De Paepe, Anne, Hyland, James C., Holman, Katerine, Kaitila, Ilkka, Loeys, Bart, Matyas, Gabor, Nuytinck, Lieve, Peltonen, Leena, Rantamaki, Terhi, Robinson, Peter, Steinmann, Beat, Junien, Claudine, Béroud, Christophe, Boileau, Catherine
Published in Human mutation (01.09.2003)
Published in Human mutation (01.09.2003)
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Life expectancy in the Marfan syndrome
Silverman, David I., Burton, Kevin J., Gray, Jonathon, Bosner, Matthew S., Kouchoukos, Nicholas T., Roman, Mary J., Boxer, Maureen, Devereux, Richard B., Tsipouras, Petros
Published in The American journal of cardiology (15.01.1995)
Published in The American journal of cardiology (15.01.1995)
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Journal Article
Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias
Clarke, Douglas J., Moghrabi, Nabil, Monaghan, Gemma, Cassidy, Andrew, Boxer, Maureen, Hume, Robert, Burchell, Brian
Published in Clinica chimica acta (09.10.1997)
Published in Clinica chimica acta (09.10.1997)
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Journal Article
Marfan Database (third edition): New mutations and new routines for the software
Collod-Béroud, Gwenaëlle, Béroud, Christophe, Ades, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J. H., Holman, Katherine J., de Paepe, Anne, Francke, Uta, Grau, Ulrich, Hayward, Caroline, Klein, Hanns-Georg, Liu, Wanguo, Nuytinck, Lieve, Peltonen, Leena, Perez, Ana Beatriz Alvarez, Rantamäki, Terhi, Junien, Claudine, Boileau, Catherine
Published in Nucleic acids research (01.01.1998)
Published in Nucleic acids research (01.01.1998)
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Journal Article
Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival
Silverman, David I., Gray, Jonathon, Roman, Mary J., Bridges, Allan, Burton, Kevin, Boxer, Maureen, Devereux, Richard B., Tsipouras, Petros
Published in Journal of the American College of Cardiology (01.10.1995)
Published in Journal of the American College of Cardiology (01.10.1995)
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Journal Article
Genetic analysis of microsomal epoxide hydrolase in patients with carbamazepine hypersensitivity
Green, Victoria J., Pirmohamed, Munir, Kitteringham, Neil R., Gaedigk, Andrea, Grant, Denis M., Boxer, Maureen, Burchell, Brian, Park, B.Kevin
Published in Biochemical pharmacology (26.10.1995)
Published in Biochemical pharmacology (26.10.1995)
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Journal Article
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
Collod-Béroud, Gwenaëlle, Béroud, Christophe, Adès, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J., Godfrey, Maurice, Hayward, Carolyne, Karttunen, Leena, Milewicz, Dianna, Peltonen, Leena, Richards, Robert I., Wang, Mei, Junien, Claudine, Boileau, Catherine
Published in Nucleic acids research (01.01.1997)
Published in Nucleic acids research (01.01.1997)
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Journal Article
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
BOOMS, P, WITHERS, A. P, BOXER, M, KAUFMANN, U. C, HAGEMEIER, C, VETTER, U, ROBINSON, P. N
Published in Human genetics (01.08.1997)
Published in Human genetics (01.08.1997)
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