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Dominique Bozon

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
1991 · Julian Zielenski, Richard Rozmahel, et al. · Genomics · 551
Genetic determination of exocrine pancreatic function in cystic fibrosis.
1992 · P Kristidis, D Bozon, et al. · PubMed · 437
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
1990 · B S Kerem, J Zielenski, et al. · Proceedings of the National Academy of Sciences · 419
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
2000 · Mireille Claustres, Caroline Guittard, et al. · Human Mutation · 254
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Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
1991 · Julian Zielenski, Dominique Bozon, et al. · Genomics · 167
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
2000 · T. Dörk, M. Macek Jr, et al. · Human Genetics · 146
A novel gly290asp mitochondrial cytochromebmutation linked to a complex III deficiency in progressive exercise intolerance
1996 · R. Dumoulin, I. Sagnol, et al. · Molecular and Cellular Probes · 103
Combined liver-kidney transplantation in primary hyperoxaluria type 1
1999 · P. Cochat, J. M. Gaulier, et al. · European Journal of Pediatrics · 83
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
2011 · Andoni Echaniz-Laguna, Maïté Chassagne, et al. · Journal of Medical Genetics · 72
CFTR genotypes in patients with normal or borderline sweat chloride levels
2003 · Delphine Feldmann, Remy Couderc, et al. · Human Mutation · 72
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
2013 · Andoni Echaniz-Laguna, Daniele Ghezzi, et al. · Neurology · 70
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Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
1998 · Roseline Froissart, Irène Maire, et al. · Clinical Genetics · 62
Mucopolysaccharidosis type II - genotype/phenotype aspects
2002 · R Froissart, I Moreira da Silva, et al. · Acta Paediatrica · 60
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G
1994 · Dominique Bozon, Julian Zielenski, et al. · Human Mutation · 59
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene
2015 · CAROLINE ROORYCK, FLORENCE KYNDT, et al. · Journal of Cardiovascular Electrophysiology · 56
Elucidation of penetrance variability of aZIC3mutation in a family with complex heart defects and functional analysis ofZIC3mutations in the first zinc finger domain
2007 · Brigitte Chhin, Minoru Hatayama, et al. · Human Mutation · 55
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Mutation analysis in 24 French patients with glycogen storage disease type 1a.
1996 · F Chevalier-Porst, D Bozon, et al. · Journal of Medical Genetics · 53
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Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France
2016 · René Wintjens, Dominique Bozon, et al. · Journal of Lipid Research · 51
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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia
2012 · Mathilde Di Filippo, Hervé Créhalet, et al. · Journal of Lipid Research · 51
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Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion
2007 · Bénédicte Mousson de camaret, Jan-Willem Taanman, et al. · Biochemical Journal · 51
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Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue
1997 · Gilles MILLAT, Roseline FROISSART, et al. · Biochemical Journal · 44
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MPS II in females: molecular basis of two different cases
2000 · STÉPHANE CUDRY, ISABELLE TIGAUD, et al. · Journal of Medical Genetics · 43
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Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations
1993 · Julian Zielenski, Dominique Bozon, et al. · Human Molecular Genetics · 36
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
2018 · Yohann Jourdy, Alexandre Janin, et al. · The American Journal of Human Genetics · 33
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Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone
1999 · M.-C. Romey, C. Guittard, et al. · Human Genetics · 33
Works count: 73
Citation count: 3,685
H-index: 28
I10-index: 52
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