| Year |
Citation |
Score |
| 2021 |
Theuriet J, Pegat A, Leblanc P, Vukusic S, Cazeneuve C, Millecamps S, Banneau G, Guillaud-Bataille M, Bernard E. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with Compound Heterozygous Mutations. Genes. 12. PMID 34946825 DOI: 10.3390/genes12121876 |
0.358 |
|
| 2021 |
Muratet F, Teyssou E, Chiot A, Boillée S, Lobsiger CS, Bohl D, Gyorgy B, Guegan J, Marie Y, Amador MDM, Salachas F, Meininger V, Bernard E, Antoine JC, Camdessanché JP, ... ... Cazeneuve C, et al. Impact of a frequent nearsplice variant in amyotrophic lateral sclerosis: optimising genetic screening for gene therapy opportunities. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 33785574 DOI: 10.1136/jnnp-2020-325921 |
0.327 |
|
| 2020 |
Teyssou E, Muratet F, Amador MD, Ferrien M, Lautrette G, Machat S, Boillée S, Larmonier T, Saker S, Leguern E, Cazeneuve C, Marie Y, Guegan J, Gyorgy B, Cintas P, et al. Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis. Neurobiology of Aging. PMID 33218681 DOI: 10.1016/j.neurobiolaging.2020.10.015 |
0.308 |
|
| 2020 |
Bah MG, Rodriguez D, Cazeneuve C, Mochel F, Devos D, Suppiej A, Roubertie A, Meunier I, Gitiaux C, Curie A, Klapczynski F, Allani-Essid N, Carneiro M, Van Minkelen R, Kievit A, et al. Deciphering the natural history of SCA7 in children. European Journal of Neurology. PMID 32558018 DOI: 10.1111/Ene.14405 |
0.335 |
|
| 2020 |
Corcia P, Lumbroso S, Cazeneuve C, Mouzat K, Camu W, Vourc’h P. Pre-symptomatic diagnosis in ALS. Revue Neurologique. 176: 166-169. PMID 31932031 DOI: 10.1016/J.Neurol.2019.07.027 |
0.446 |
|
| 2019 |
Berrechid AG, Bendjebara M, Bouteiller D, Nasri A, Peuvion JN, Marie Y, Baulac S, Mrabet S, Ribierre T, Cazeneuve C, Imenkacem, Leguern E, Gouider R. Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. Epileptic Disorders : International Epilepsy Journal With Videotape. PMID 31368437 DOI: 10.1684/Epd.2019.1078 |
0.504 |
|
| 2018 |
Fournier C, Barbier M, Camuzat A, Anquetil V, Lattante S, Clot F, Cazeneuve C, Rinaldi D, Couratier P, Deramecourt V, Sabatelli M, Belliard S, Vercelletto M, Forlani S, Jornea L, et al. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers. Neurobiology of Aging. PMID 30337192 DOI: 10.1016/J.Neurobiolaging.2018.09.010 |
0.333 |
|
| 2017 |
Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, ... ... Cazeneuve C, et al. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. Journal of Neurology. PMID 28478596 DOI: 10.1007/S00415-017-8500-5 |
0.437 |
|
| 2017 |
Gargiulo M, Tezenas du Montcel S, Jutras MF, Herson A, Cazeneuve C, Durr A. A liminal stage after predictive testing for Huntington disease. Journal of Medical Genetics. PMID 28087720 DOI: 10.1136/Jmedgenet-2016-104199 |
0.336 |
|
| 2016 |
Mariani LL, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noël S, Peuvion JN, Bachoud-Levi AC, Brice A, Stevanin G, Durr A. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. Jama Neurology. PMID 27400454 DOI: 10.1001/Jamaneurol.2016.2215 |
0.397 |
|
| 2016 |
Bouchghoul H, Clément SF, Vauthier D, Cazeneuve C, Noel S, Dommergues M, Héron D, Nizard J, Gargiulo M, Durr A. Prenatal testing in Huntington disease: after the test, choices recommence. European Journal of Human Genetics : Ejhg. PMID 27302844 DOI: 10.1038/Ejhg.2016.59 |
0.337 |
|
| 2016 |
Thion MS, Tézenas du Montcel S, Golmard JL, Vacher S, Barjhoux L, Sornin V, Cazeneuve C, Bièche I, Sinilnikova O, Stoppa-Lyonnet D, Durr A, Humbert S. CAG repeat size in Huntingtin alleles is associated with cancer prognosis. European Journal of Human Genetics : Ejhg. 24: 1310-5. PMID 26980106 DOI: 10.1038/Ejhg.2016.13 |
0.313 |
|
| 2015 |
Le Ber I, De Septenville A, Millecamps S, Camuzat A, Caroppo P, Couratier P, Blanc F, Lacomblez L, Sellal F, Fleury MC, Meininger V, Cazeneuve C, Clot F, Flabeau O, LeGuern E, et al. TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts. Neurobiology of Aging. 36: 3116.e5-8. PMID 26476236 DOI: 10.1016/J.Neurobiolaging.2015.08.009 |
0.397 |
|
| 2015 |
Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Survival and severity in dominant cerebellar ataxias. Annals of Clinical and Translational Neurology. 2: 202-7. PMID 25750924 DOI: 10.1002/Acn3.156 |
0.394 |
|
| 2014 |
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, ... ... Cazeneuve C, et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain : a Journal of Neurology. 137: 2444-55. PMID 24972706 DOI: 10.1093/Brain/Awu174 |
0.374 |
|
| 2014 |
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E. Charcot-marie-tooth disease type 2A: From typical to rare phenotypic and genotypic features Jama Neurology. 71: 1036-1042. PMID 24957169 DOI: 10.1001/Jamaneurol.2014.629 |
0.462 |
|
| 2014 |
Clot F, Rovelet-Lecrux A, Lamari F, Noël S, Keren B, Camuzat A, Michon A, Jornea L, Laudier B, de Septenville A, Caroppo P, Campion D, Cazeneuve C, Brice A, LeGuern E, et al. Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration. Neurogenetics. 15: 95-100. PMID 24469240 DOI: 10.1007/S10048-014-0389-X |
0.534 |
|
| 2013 |
Teyssou E, Takeda T, Lebon V, Boillée S, Doukouré B, Bataillon G, Sazdovitch V, Cazeneuve C, Meininger V, LeGuern E, Salachas F, Seilhean D, Millecamps S. Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. Acta Neuropathologica. 125: 511-22. PMID 23417734 DOI: 10.1007/S00401-013-1090-0 |
0.482 |
|
| 2012 |
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, ... ... Cazeneuve C, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain : a Journal of Neurology. 135: 2980-93. PMID 23065789 DOI: 10.1093/brain/aws240 |
0.463 |
|
| 2012 |
Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, ... ... Cazeneuve C, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. Journal of Medical Genetics. 49: 258-63. PMID 22499346 DOI: 10.1136/Jmedgenet-2011-100699 |
0.389 |
|
| 2012 |
Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, et al. Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. Archives of Neurology. 69: 500-8. PMID 22491195 DOI: 10.1001/Archneurol.2011.2713 |
0.308 |
|
| 2012 |
Yger M, Stojkovic T, Tardieu S, Maisonobe T, Brice A, Echaniz-Laguna A, Alembik Y, Girard S, Cazeneuve C, Leguern E, Dubourg O. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. Journal of the Peripheral Nervous System : Jpns. 17: 112-22. PMID 22462672 DOI: 10.1111/J.1529-8027.2012.00382.X |
0.475 |
|
| 2012 |
Millecamps S, Corcia P, Cazeneuve C, Boillée S, Seilhean D, Danel-Brunaud V, Vandenberghe N, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E, et al. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 839.e1-3. PMID 22169395 DOI: 10.1016/J.Neurobiolaging.2011.11.010 |
0.471 |
|
| 2012 |
Charles P, Mariani L, Cazeneuve C, Hahn-Barma V, Youssov K, Noel S, Peuvion J, Seilhean D, Freeman L, Roze E, Bachoud-Levi A, Durr A. Huntington Disease Like Phenotypes Not Linked to CAG Repeat Expansions in the HTT Gene (S32.002) Neurology. 78: S32.002-S32.002. DOI: 10.1212/Wnl.78.1_Meetingabstracts.S32.002 |
0.373 |
|
| 2011 |
Rodrigues GR, Walker RH, Bader B, Danek A, Brice A, Cazeneuve C, Russaouen O, Lopes-Cendes I, Marques Jr W, Tumas V. Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype. Arquivos De Neuro-Psiquiatria. 69: 419-23. PMID 21755114 DOI: 10.1590/S0004-282X2011000400002 |
0.433 |
|
| 2011 |
Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Human Mutation. 32: 1118-27. PMID 21618648 DOI: 10.1002/Humu.21542 |
0.493 |
|
| 2011 |
Marelli C, Cazeneuve C, Brice A, Stevanin G, Dürr A. Autosomal dominant cerebellar ataxias. Revue Neurologique. 167: 385-400. PMID 21546047 DOI: 10.1016/J.Neurol.2011.01.015 |
0.48 |
|
| 2011 |
Millecamps S, Boillée S, Chabrol E, Camu W, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Corcia P, Le Forestier N, Lacomblez L, Bruneteau G, Seilhean D, Brice A, et al. Screening of OPTN in French familial amyotrophic lateral sclerosis. Neurobiology of Aging. 32: 557.e11-3. PMID 21220178 DOI: 10.1016/J.Neurobiolaging.2010.11.005 |
0.464 |
|
| 2010 |
Troiano AR, Elbaz A, Lohmann E, Belarbi S, Vidailhet M, Bonnet AM, Lesage S, Pollak P, Cazeneuve C, Borg M, Feingold J, Dürr A, Tazir M, Brice A. Low disease risk in relatives of north african lrrk2 Parkinson disease patients. Neurology. 75: 1118-9. PMID 20855856 DOI: 10.1212/Wnl.0B013E3181F39A2E |
0.361 |
|
| 2010 |
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. Journal of Medical Genetics. 47: 554-60. PMID 20577002 DOI: 10.1136/Jmg.2010.077180 |
0.475 |
|
| 2010 |
Millecamps S, Da Barroca S, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Lacomblez L, Le Forestier N, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E. Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences of the United States of America. 107: E107; author reply E. PMID 20538972 DOI: 10.1073/Pnas.1006190107 |
0.422 |
|
| 2010 |
Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, ... ... Cazeneuve C, et al. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Human Molecular Genetics. 19: 1998-2004. PMID 20197411 DOI: 10.1093/Hmg/Ddq081 |
0.47 |
|
| 2009 |
Dhaenens CM, Burnouf S, Simonin C, Van Brussel E, Duhamel A, Defebvre L, Duru C, Vuillaume I, Cazeneuve C, Charles P, Maison P, Debruxelles S, Verny C, Gervais H, Azulay JP, et al. A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease. Neurobiology of Disease. 35: 474-6. PMID 19591938 DOI: 10.1016/J.Nbd.2009.06.009 |
0.317 |
|
| 2009 |
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia Brain. 132: 1753-1763. PMID 19491146 DOI: 10.1093/Brain/Awp084 |
0.494 |
|
| 2009 |
Seilhean D, Cazeneuve C, Thuriès V, Russaouen O, Millecamps S, Salachas F, Meininger V, Leguern E, Duyckaerts C. Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation. Acta Neuropathologica. 118: 561-73. PMID 19449021 DOI: 10.1007/S00401-009-0545-9 |
0.383 |
|
| 2009 |
Cazeneuve C, Sân C, Ibrahim SA, Mukhtar MM, Kheir MM, Leguern E, Brice A, Salih MA. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics. 10: 265-70. PMID 19214605 DOI: 10.1007/S10048-009-0174-4 |
0.521 |
|
| 2009 |
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, ... ... Cazeneuve C, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. Plos Genetics. 5: e1000381. PMID 19214208 DOI: 10.1371/Journal.Pgen.1000381 |
0.502 |
|
| 2009 |
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. Journal of Medical Genetics. 46: 183-91. PMID 18930999 DOI: 10.1136/Jmg.2008.062323 |
0.521 |
|
| 2008 |
Rodrigues GG, Walker RH, Brice A, Cazeneuve C, Russaouen O, Teive HA, Munhoz RP, Becker N, Raskin S, Werneck LC, Junior WM, Tumas V. Huntington's disease-like 2 in Brazil--report of 4 patients. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 2244-7. PMID 18816802 DOI: 10.1002/Mds.22223 |
0.441 |
|
| 2007 |
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. Journal of Medical Genetics. 44: 281-4. PMID 17098887 DOI: 10.1136/Jmg.2006.046425 |
0.476 |
|
| 2006 |
Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. Annals of the Rheumatic Diseases. 65: 1154-7. PMID 16439437 DOI: 10.1136/Ard.2005.048124 |
0.769 |
|
| 2005 |
Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, Grateau G, Amselem S. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. Arthritis and Rheumatism. 52: 3603-5. PMID 16255051 DOI: 10.1002/Art.21408 |
0.735 |
|
| 2005 |
Jéru I, Papin S, L'hoste S, Duquesnoy P, Cazeneuve C, Camonis J, Amselem S. Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus. Arthritis and Rheumatism. 52: 1848-57. PMID 15934090 DOI: 10.1002/Art.21050 |
0.735 |
|
| 2005 |
Grateau G, Jéru I, Rouaghe S, Cazeneuve C, Ravet N, Duquesnoy P, Cuisset L, Dodé C, Delpech M, Amselem S. Amyloidosis and auto-inflammatory syndromes. Current Drug Targets. Inflammation and Allergy. 4: 57-65. PMID 15720237 DOI: 10.2174/1568010053622786 |
0.719 |
|
| 2005 |
Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, Santostasi T, Salvatore D, Raia V, Rigillo N, Goossens M, Salvatore F. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population Annals of Human Genetics. 69: 15-24. PMID 15638824 DOI: 10.1046/J.1529-8817.2004.00130.X |
0.42 |
|
| 2004 |
Cazeneuve C, Papin S, Jéru I, Duquesnoy P, Amselem S. Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC. Journal of Medical Genetics. 41: e24. PMID 14985395 DOI: 10.1136/Jmg.2003.011601 |
0.801 |
|
| 2003 |
Tchernitchko D, Legendre M, Delahaye A, Cazeneuve C, Niel F, Goossens M, Amselem S, Girodon E. Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. Clinical Chemistry. 49: 1942-5. PMID 14578331 DOI: 10.1373/Clinchem.2003.021212 |
0.782 |
|
| 2003 |
Papin S, Cazeneuve C, Duquesnoy P, Jeru I, Sahali D, Amselem S. The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65. The Journal of Biological Chemistry. 278: 48839-47. PMID 14514692 DOI: 10.1074/Jbc.M305166200 |
0.752 |
|
| 2003 |
Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, ... ... Cazeneuve C, et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Human Mutation. 22: 340. PMID 12955726 DOI: 10.1002/Humu.9183 |
0.472 |
|
| 2003 |
Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Human Mutation. 22: 339-40. PMID 12955725 DOI: 10.1002/Humu.9182 |
0.78 |
|
| 2003 |
Cazeneuve C, Geneviève D, Amselem S, Hentgen V, Hau I, Reinert P. MEFV gene analysis in PFAPA. The Journal of Pediatrics. 143: 140-1. PMID 12915843 DOI: 10.1016/S0022-3476(03)00259-2 |
0.546 |
|
| 2003 |
Cazeneuve C, Hovannesyan Z, Geneviève D, Hayrapetyan H, Papin S, Girodon-Boulandet E, Boissier B, Feingold J, Atayan K, Sarkisian T, Amselem S. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis and Rheumatism. 48: 2324-31. PMID 12905488 DOI: 10.1002/Art.11102 |
0.779 |
|
| 2002 |
Girodon E, Sternberg D, Chazouillères O, Cazeneuve C, Huot D, Calmus Y, Poupon R, Goossens M, Housset C. Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis Journal of Hepatology. 37: 192-197. PMID 12127423 DOI: 10.1016/S0168-8278(02)00161-7 |
0.695 |
|
| 2001 |
Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-FrÃas J, Olveira C, Cabanas R, ... ... Cazeneuve C, et al. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. Journal of Medical Genetics. 38: 777-83. PMID 11732487 DOI: 10.1136/jmg.38.11.777 |
0.302 |
|
| 2001 |
Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, et al. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. European Journal of Human Genetics : Ejhg. 9: 51-5. PMID 11175300 DOI: 10.1038/Sj.Ejhg.5200574 |
0.658 |
|
| 2000 |
Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, Amselem S. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Human Molecular Genetics. 9: 3001-9. PMID 11115844 DOI: 10.1093/Hmg/9.20.3001 |
0.742 |
|
| 2000 |
Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian JC, Girodon-Boulandet E, Grateau G, Sarkisian T, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. American Journal of Human Genetics. 67: 1136-43. PMID 11017802 DOI: 10.1016/S0002-9297(07)62944-9 |
0.763 |
|
| 2000 |
Girodon-Boulandet E, Pantel J, Cazeneuve C, Gijn MV, Vidaud D, Lemay S, Martin J, Zeller J, Revuz J, Goossens M, Amselem S, Wolkenstein P. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. Human Mutation. 16: 274-5. PMID 10980545 DOI: 10.1002/1098-1004(200009)16:3<274::Aid-Humu21>3.0.Co;2-F |
0.66 |
|
| 2000 |
Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Human Mutation. 16: 143-56. PMID 10923036 DOI: 10.1002/1098-1004(200008)16:2<143::Aid-Humu7>3.0.Co;2-J |
0.486 |
|
| 2000 |
Dodé C, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. American Journal of Medical Genetics. 92: 241-6. PMID 10842288 DOI: 10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO;2-G |
0.666 |
|
| 2000 |
Grateau G, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Dodé C. Clinical versus genetic diagnosis of familial Mediterranean fever. Qjm : Monthly Journal of the Association of Physicians. 93: 223-9. PMID 10787450 DOI: 10.1093/QJMED/93.4.223 |
0.581 |
|
| 2000 |
Girodon-Boulandet E, Cazeneuve C, Goossens M. Screening practices for mutations in the CFTR gene ABCC7. Human Mutation. 15: 135-49. PMID 10649490 DOI: 10.1002/(Sici)1098-1004(200002)15:2<135::Aid-Humu2>3.0.Co;2-H |
0.486 |
|
| 2000 |
Hézode C, Cazeneuve C, Coué O, Roudot-Thoraval F, Lonjon I, Bastie A, Duvoux C, Pawlotsky JM, Zafrani ES, Amselem S, Dhumeaux D. Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions. Journal of Hepatology. 31: 979-84. PMID 10604569 DOI: 10.1016/S0168-8278(99)80308-0 |
0.543 |
|
| 1999 |
Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Scarpa M, Goossens M, Salvatore F. A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy Human Mutation. 14: 272. PMID 10477439 DOI: 10.1002/(Sici)1098-1004(1999)14:3<272::Aid-Humu18>3.0.Co;2-B |
0.481 |
|
| 1999 |
Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C, Duquesnoy P, Besmond C, Goossens M, Lissens W, Amselem S. Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection. American Journal of Human Genetics. 65: 463-73. PMID 10417289 DOI: 10.1086/302484 |
0.657 |
|
| 1999 |
Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F. Detection of five rare cystic fibrosis mutations peculiar to southern Italy: Implications in screening for the disease and phenotype characterization for patients with homozygote mutations Clinical Chemistry. 45: 957-962. PMID 10388469 DOI: 10.1093/Clinchem/45.7.957 |
0.511 |
|
| 1999 |
Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. American Journal of Human Genetics. 65: 88-97. PMID 10364520 DOI: 10.1086/302459 |
0.665 |
|
| 1998 |
Hezode C, Cazeneuve C, Coué O, Pawlotsky JM, Zafrani ES, Amselem S, Dhumeaux D. Hemochromatosis Cys282Tyr mutation and liver iron overload in patients with chronic active hepatitis C. Hepatology (Baltimore, Md.). 27: 306. PMID 9425955 DOI: 10.1002/Hep.510270148 |
0.548 |
|
| 1998 |
Houdayer C, Cazeneuve C, Cougoureux E, Magnier C, Tredano M, Aymard P, Goossens M, Feldmann D. Clinical Evaluation of the CF(12)m Cystic Fibrosis DNA Diagnostic Kit Clinical Chemistry. 44: 1346-1348. DOI: 10.1093/Clinchem/44.6.1346 |
0.448 |
|
| 1997 |
Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M. CFTR gene mutations in adults with disseminated bronchiectasis. European Journal of Human Genetics. 5: 149-155. DOI: 10.1007/Bf03405892 |
0.527 |
|
| 1995 |
Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C. Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide. Human Mutation. 6: 23-9. PMID 7550227 DOI: 10.1002/Humu.1380060106 |
0.456 |
|
| 1995 |
Bienvenu T, Lacronique V, Raymondjean M, Cazeneuve C, Hubert D, Kaplan JC, Beldjord C. Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect. Human Genetics. 95: 698-702. PMID 7540587 DOI: 10.1007/Bf00209490 |
0.387 |
|
| 1995 |
Bienvenu T, Cazeneuve C, Fajac I, Dusser D, Hubert D, Kaplan JC, Beldjord C. Identification of a novel missense mutation G239R in exon 6a of the CFTR gene. Human Heredity. 45: 53-4. PMID 7534748 DOI: 10.1159/000154255 |
0.445 |
|
| 1994 |
Bienvenu T, Cazeneuve C, Beldjord C, Dusser D, Kaplan JC, Hubert D. A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient. Human Molecular Genetics. 3: 365-6. PMID 7516232 DOI: 10.1093/hmg/3.2.365 |
0.407 |
|
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