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Christophe PHILIPPE
Christophe PHILIPPE
PU-PH
Verified email at chu-dijon.fr - Homepage
Title
Cited by
Cited by
Year
Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase
S Tuffery‐Giraud, C Béroud, F Leturcq, RB Yaou, D Hamroun, ...
Human mutation 30 (6), 934-945, 2009
3902009
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and …
S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ...
The American Journal of Human Genetics 62 (3), 533-541, 1998
3401998
Key clinical features to identify girls with CDKL5 mutations
N Bahi-Buisson, J Nectoux, H Rosas-Vargas, M Milh, N Boddaert, ...
Brain 131 (10), 2647-2661, 2008
3242008
The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor α in acute promyelocytic-like leukaemia
C Arnould, C Philippe, V Bourdon, MJ Grégoire, R Berger, P Jonveaux
Human molecular genetics 8 (9), 1741-1749, 1999
2961999
The UTX gene escapes X inactivation in mice and humans
A Greenfield, L Carrel, D Pennisi, C Philippe, N Quaderi, P Siggers, ...
Human molecular genetics 7 (4), 737-742, 1998
2931998
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
C Béroud, S Tuffery‐Giraud, M Matsuo, D Hamroun, V Humbertclaude, ...
Human mutation 28 (2), 196-202, 2007
2342007
The three stages of epilepsy in patients with CDKL5 mutations
N Bahi‐Buisson, A Kaminska, N Boddaert, M Rio, A Afenjar, M Gérard, ...
Epilepsia 49 (6), 1027-1037, 2008
2232008
European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert consensus …
AAM Wilde, C Semsarian, MF Márquez, AS Shamloo, MJ Ackerman, ...
Europace 24 (8), 1307-1367, 2022
191*2022
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
S Nambot, J Thevenon, P Kuentz, Y Duffourd, E Tisserant, AL Bruel, ...
Genetics in Medicine 20 (6), 645-654, 2018
1602018
Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21
C Sala, G Arrigo, G Torri, F Martinazzi, P Riva, L Larizza, C Philippe, ...
Genomics 40 (1), 123-131, 1997
1551997
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
C Philippe, DE Porter, ME Emerton, DE Wells, A Hamish, RW Simpson, ...
The American Journal of Human Genetics 61 (3), 520-528, 1997
1511997
Cloning and characterization of the human choroideremia gene
H Bokhoven, JAJM Hurk, L Bogerd, C Philippe, S Gilgenkrantz, P Jong, ...
Human molecular genetics 3 (7), 1041-1046, 1994
1491994
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
JB Courcet, L Faivre, P Malzac, A Masurel-Paulet, E Lopez, P Callier, ...
Journal of medical genetics 49 (12), 731-736, 2012
1372012
Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature
C Nemos, L Lambert, F Giuliano, B Doray, A Roubertie, A Goldenberg, ...
Clinical genetics 76 (4), 357-371, 2009
1272009
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life
J Thévenon, M Milh, F Feillet, J St-Onge, Y Duffourd, C Jugé, A Roubertie, ...
The American Journal of Human Genetics 95 (1), 113-120, 2014
1262014
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet …
V Latger-Cannard, C Philippe, A Bouquet, V Baccini, MC Alessi, A Ankri, ...
Orphanet journal of rare diseases 11, 1-15, 2016
1112016
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females
C Philippe, D Amsallem, C Francannet, L Lambert, A Saunier, F Verneau, ...
Journal of medical genetics 47 (1), 59-65, 2010
1112010
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions
M Béri-Dexheimer, V Latger-Cannard, C Philippe, C Bonnet, P Chambon, ...
European Journal of Human Genetics 16 (8), 1014-1018, 2008
1112008
Gr goire MJ, Berger R, Jonveaux P. The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like …
C Arnould, C Philippe, V Bourdon
Hum Mol Genet 8 (9), 1741-1749, 1999
1021999
Cohen syndrome is associated with major glycosylation defects
L Duplomb, S Duvet, D Picot, G Jego, S El Chehadeh-Djebbar, N Marle, ...
Human molecular genetics 23 (9), 2391-2399, 2014
1002014
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