PubRank

C Férec

Author PubWeight™ 67.43‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The natural history of hereditary pancreatitis: a national series. Gut 2008 2.33
2 The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet 1996 1.71
3 Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet 2000 1.65
4 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999 1.61
5 Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 2001 1.29
6 Simultaneous screening for HBV DNA and HCV RNA genomes in blood donations using a novel TaqMan PCR assay. J Virol Methods 1999 1.23
7 Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat 2004 1.23
8 Revealing the human mutome. Clin Genet 2010 1.08
9 Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet 1993 1.05
10 Non-viral vectors in cystic fibrosis gene therapy: progress and challenges. Trends Biotechnol 2004 1.00
11 Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population. Osteoarthritis Cartilage 2010 0.99
12 Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations. Hum Genet 2001 0.98
13 Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 1997 0.97
14 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 1995 0.97
15 Factors influencing disease phenotype and penetrance in HFE haemochromatosis. Hum Genet 2010 0.97
16 The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009 0.96
17 Screening blood donations for viral genomes: multicenter study of real-time simulation using pooled samples on the model of hepatitis C virus RNA detection. Transfusion 1998 0.95
18 Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod 1996 0.93
19 Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. Hum Mutat 1996 0.92
20 A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models. Mol Biol Evol 2001 0.92
21 Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns. Acta Paediatr 1999 0.92
22 Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography. BMC Genet 2001 0.91
23 Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing. Hum Mol Genet 1994 0.90
24 [Linkage between juvenile glaucoma and chromosome 1q in 2 French families]. C R Acad Sci III 1994 0.90
25 Prevalence of 20210 A allele of the prothrombin gene in venous thromboembolism patients. Thromb Haemost 1998 0.90
26 Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population. Osteoarthritis Cartilage 2009 0.89
27 HLA class II typing and idiopathic IgA nephropathy (IgAN): DQB1*0301, a possible marker of unfavorable outcome. Tissue Antigens 1995 0.89
28 Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996 0.89
29 Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada). Clin Genet 1998 0.89
30 Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC. Clin Chem 2001 0.89
31 Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. Clin Genet 2001 0.88
32 Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies. J Med Genet 2002 0.88
33 [Molecular epidemiology of cystic fibrosis in Tunisia]. Ann Biol Clin (Paris) 2005 0.88
34 p53 protein accumulation in oesophageal squamous cell carcinomas and precancerous lesions. J Clin Pathol 1995 0.86
35 The pancreatitis-associated protein (PAP). A new candidate for neonatal screening of cystic fibrosis. C R Acad Sci III 1994 0.85
36 Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol 2004 0.84
37 Cation substitution in cationic phosphonolipids: a new concept to improve transfection activity and decrease cellular toxicity. J Med Chem 2000 0.83
38 Factor V Leiden prevalence in venous thromboembolism patients. Chest 1997 0.83
39 GBV-C/hepatitis G virus (HGV) RNA load in immunodeficient individuals and in immunocompetent individuals. J Med Virol 1999 0.83
40 A novel mutation in exon 3 of the CFTR gene. Hum Genet 1993 0.82
41 High rate of GB virus type C/HGV transmission from mother to infant: possible implications for the prevalence of infection in blood donors. Transfusion 2000 0.82
42 Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis. Hum Genet 1994 0.82
43 Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 1999 0.81
44 Copy number variations in chronic pancreatitis. Cytogenet Genome Res 2009 0.81
45 Screening for cystic fibrosis in dried blood spots of newborns. Mol Cell Probes 1993 0.81
46 Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. Hum Mutat 1996 0.81
47 Confined placental trisomy 7: pitfall for cystic fibrosis prenatal diagnosis. Lancet 1994 0.80
48 Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations. Cell Mol Life Sci 2005 0.80
49 Relation between HFE mutations and mild iron-overload expression. Mol Genet Metab 2000 0.79
50 Cationic phosphonolipids as non viral vectors for DNA transfection in hematopoietic cell lines and CD34+ cells. Blood Cells Mol Dis 1997 0.79
51 Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J Inherit Metab Dis 2007 0.78
52 [Evaluation of the immediate transfusion reaction incident reporting system at the Brest University Hospital Center]. Transfus Clin Biol 2001 0.78
53 Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. Hum Reprod 1996 0.78
54 Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. Hum Hered 1993 0.78
55 Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients. Hum Genet 1994 0.78
56 Strong evidence that skewed X-chromosome inactivation is not associated with recurrent pregnancy loss: an incident paired case control study. Hum Reprod 2007 0.78
57 Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada). Blood Cells Mol Dis 2000 0.78
58 Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system. Clin Genet 2002 0.78
59 KLN-5: a safe monocationic lipophosphoramide to transfect efficiently haematopoietic cell lines and human CD34+ cells. Biochim Biophys Acta 2004 0.77
60 Phosphonocationic lipids in protein delivery to mice lungs. J Pharm Sci 2000 0.77
61 Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles. Hum Mutat 1995 0.77
62 Lessons from a multicentre study of the detectability of viral genomes based on a two-round quality control of GB virus C (GBV-C)/hepatitis G virus (HGV) polymerase chain reaction assay. J Virol Methods 2000 0.77
63 Factors influencing the efficiency of lipoplexes mediated gene transfer in lung after intravenous administration 1 *. J Liposome Res 2001 0.77
64 Screening for HBV, HCV and HIV genomes in blood donations: shortcomings of pooling revealed by a multicentre study simulating real-time testing. J Virol Methods 1999 0.77
65 Inherited thrombophilias and unexplained pregnancy loss: an incident case-control study. J Thromb Haemost 2008 0.76
66 Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent. Haematologica 2008 0.76
67 Biodistribution study of phosphonolipids: a class of non-viral vectors efficient in mice lung-directed gene transfer. J Gene Med 2003 0.76
68 Systemic administration of cationic phosphonolipids/DNA complexes and the relationship between formulation and lung transfection efficiency. Biochim Biophys Acta 2000 0.76
69 The RHD*weak D type 4.0 allele is predominantly but not exclusively cis-associated with the altered RHCE*ce(c.48C, c.105T, c.733G, c.744C, c.1025T) allele in the French population. Transfus Med 2014 0.76
70 [Evaluation of 47,213 infants in neonatal screening for cystic fibrosis, using pancreatitis-associated protein and immunoreactive trypsinogen assays]. Arch Pediatr 2001 0.76
71 Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs. J Med Genet 2001 0.76
72 Prevalence of GBV C/HGV RNA and GBV C/HGV antibodies in French volunteer blood donors: results of a collaborative study. Vox Sang 1999 0.76
73 Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients. J Med Genet 1998 0.75
74 Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Br J Haematol 2000 0.75
75 Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A. Hum Mutat 1994 0.75
76 Cationic phosphonolipids as nonviral gene transfer agents in the lungs of mice. Hum Gene Ther 1998 0.75
77 [Antiperinuclear factors in psoriasis. Correlation with other serological abnormalities in 90 patients]. Ann Dermatol Venereol 1982 0.75
78 Myocardial infarction: absence of association with VNTR polymorphism of GP Ibalpha. Thromb Haemost 2000 0.75
79 Identification of two novel mutations in the cystic fibrosis gene: 1898+3A-->C and 2711delT. Hum Mutat 1995 0.75
80 Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140. Hum Mutat 1997 0.75
81 [Genetic analysis after allograft: prudence!]. Presse Med 2000 0.75
82 Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada). Ann Genet 1997 0.75
83 [Neonatal screening of cystic fibrosis: diagnostic and ethical problems with mild mutations]. Arch Pediatr 2005 0.75
84 Correlation between mutations and age in cystic fibrosis in a French Canadian population. J Med Genet 2000 0.75
85 Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany. Hum Genet 1996 0.75
86 [Neonatal screening for cystic fibrosis]. Pathol Biol (Paris) 2001 0.75
87 [Cystic fibrosis gene mutations in the West of France: clinical application]. Ann Biol Clin (Paris) 1994 0.75
88 Cationic phosphonolipids as nonviral vectors: in vitro and in vivo applications. J Pharm Sci 2000 0.75
89 Relationship between genotype and phenotype for the CFTR gene W846X mutation. J Med Genet 2002 0.75
90 Nramp2 analysis in hemochromatosis probands. Blood Cells Mol Dis 2000 0.75
91 [Prevention of post-transfusional malaria]. Rev Fr Transfus Immunohematol 1986 0.75