AAAAAA

   
Results: 1-25 | 26-28
Results: 1-25/28
Re: Promoter methylation and silencing of the retinoic acid receptor-beta gene in lung carcinomas
Authors: Lamy, A Metayer, J Thiberville, L Frebourg, T Sesboue, R
Citation: A. Lamy et al., Re: Promoter methylation and silencing of the retinoic acid receptor-beta gene in lung carcinomas, J NAT CANC, 93(1), 2001, pp. 66-67
Loss of MDM2 expression in human head and neck squamous cell carcinomas and clinical significance
Authors: Millon, R Muller, D Schultz, I Salvi, R Ghnassia, JP Frebourg, T Wasylyk, B Abecassis, J
Citation: R. Millon et al., Loss of MDM2 expression in human head and neck squamous cell carcinomas and clinical significance, ORAL ONCOL, 37(8), 2001, pp. 620-631
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with afounder effect
Authors: Auroy, S Avril, MF Chompret, A Pham, D Goldstein, AM Bianchi-Scarra, G Frebourg, T Joly, P Spatz, A Rubino, C Demenais, F Bressac-de Paillerets, B
Citation: S. Auroy et al., Sporadic multiple primary melanoma cases: CDKN2A germline mutations with afounder effect, GENE CHROM, 32(3), 2001, pp. 195-202
TP63 gene mutation in ADULT syndrome
Authors: Amiel, J Bougeard, G Francannet, C Raclin, V Munnich, A Lyonnet, S Frebourg, T
Citation: J. Amiel et al., TP63 gene mutation in ADULT syndrome, EUR J HUM G, 9(8), 2001, pp. 642-645
Amifostine (WR2721) restores transcriptional activity of specific p53 mutant proteins in a yeast functional assay
Authors: Maurici, D Monti, P Campomenosi, P North, S Frebourg, T Fronza, G Hainaut, P
Citation: D. Maurici et al., Amifostine (WR2721) restores transcriptional activity of specific p53 mutant proteins in a yeast functional assay, ONCOGENE, 20(27), 2001, pp. 3533-3540
p53 mutants can often transactivate promoters containing a p21 but not Baxor PIG3 responsive elements
Authors: Campomenosi, P Monti, P Aprile, A Abbondandolo, A Frebourg, T Gold, B Crook, T Inga, A Resnick, MA Iggo, R Fronza, G
Citation: P. Campomenosi et al., p53 mutants can often transactivate promoters containing a p21 but not Baxor PIG3 responsive elements, ONCOGENE, 20(27), 2001, pp. 3573-3579
Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Authors: Saugier-Veber, P Drouot, N Wolf, LM Kuhn, JM Frebourg, T Lefebvre, H
Citation: P. Saugier-veber et al., Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, EUR J ENDOC, 144(4), 2001, pp. 347-351
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling
Authors: Drouin-Garraud, V Belgrand, M Grunewald, S Seta, N Dacher, JN Henocq, A Matthijs, G Cormier-Daire, V Frebourg, T Saugier-Veber, P
Citation: V. Drouin-garraud et al., Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling, AM J MED G, 101(1), 2001, pp. 46-49
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method
Authors: Saugier-Veber, P Drouot, N Lefebvre, S Charbonnier, F Vial, E Munnich, A Frebourg, T
Citation: P. Saugier-veber et al., Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method, J MED GENET, 38(4), 2001, pp. 240-243
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome
Authors: Bougeard, G Limacher, JM Martin, C Charbonnier, F Killian, A Delattre, O Longy, M Jonveaux, P Fricker, JP Stoppa-Lyonnet, D Flaman, JM Frebourg, T
Citation: G. Bougeard et al., Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome, J MED GENET, 38(4), 2001, pp. 253-256
Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome
Authors: Limacher, JM Frebourg, T Natarajan-Ame, S Bergerat, JP
Citation: Jm. Limacher et al., Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome, INT J CANC, 96(4), 2001, pp. 238-242
Li-Fraumeni syndrome: update, new data and guidelines for clinical management
Authors: Frebourg, T Ebel, A Bonaiti-Pellie, C Brugieres, L Berthet, P Bressac-De Paillerets, B Chevrier, A Chompret, A Cohen-Haguenauer, O Delattre, O Feingold, J Feunteun, J Frappaz, D Fricker, JP Gesta, P Jonveaux, P Kalifa, C Lasset, C Leheup, B Limacher, JM Longy, M Nogues, C Oppenheim, D Sommelet, D Soubrier, F Stoll, C Stoppa-Lyonnet, D Tristant, H
Citation: T. Frebourg et al., Li-Fraumeni syndrome: update, new data and guidelines for clinical management, B CANCER, 88(6), 2001, pp. 581-587
APOE promoter polymorphisms do not confer independent risk for Alzheimer'sdisease in a French population
Authors: Zurutuza, L Verpillat, P Raux, G Hannequin, D Puel, M Belliard, S Michon, A Pothin, Y Camuzat, A Penet, C Martin, C Brice, A Campion, D Clerget-Darpoux, F Frebourg, T
Citation: L. Zurutuza et al., APOE promoter polymorphisms do not confer independent risk for Alzheimer'sdisease in a French population, EUR J HUM G, 8(9), 2000, pp. 713-716
Mutations in the neuroserpin gene are rare in familial dementia
Authors: Camuzat, A Verpillat, P Dubois, B Penet, C Agid, CPY Brice, A Clerget-Darpoux, F Moreaud, O Puel, M Kinter, J Kozlov, S Berger, P Sonderegger, P Raux, G Campion, D Hannequin, D Frebourg, T
Citation: A. Camuzat et al., Mutations in the neuroserpin gene are rare in familial dementia, ANN NEUROL, 47(5), 2000, pp. 688-688
The pathogenic L392V mutation of presenilin 1 decreases the affinity to glycogen synthase kinase-3 beta
Authors: Gantier, R Gilbert, D Dumanchin, C Campion, D Davoust, D Toma, F Frebourg, T
Citation: R. Gantier et al., The pathogenic L392V mutation of presenilin 1 decreases the affinity to glycogen synthase kinase-3 beta, NEUROSCI L, 283(3), 2000, pp. 217-220
High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis
Authors: Robert, V Michel, P Flaman, JM Chiron, A Martin, C Charbonnier, F Paillot, B Frebourg, T
Citation: V. Robert et al., High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis, CARCINOGENE, 21(4), 2000, pp. 563-565
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation
Authors: Raux, G Gantier, R Thomas-Anterion, C Boulliat, J Verpillat, P Hannequin, D Brice, A Frebourg, T Campion, D
Citation: G. Raux et al., Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation, NEUROLOGY, 55(10), 2000, pp. 1577-1578
Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
Authors: Charbonnier, F Raux, G Wang, Q Drouot, N Cordier, F Limacber, JM Saurin, JC Puisieux, A Olschwang, S Frebourg, T
Citation: F. Charbonnier et al., Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments, CANCER RES, 60(11), 2000, pp. 2760-2763
p53 germline mutations in childhood cancers and cancer risk for carrier individuals
Authors: Chompret, A Brugieres, L Ronsin, M Gardes, M Dessarps-Freichey, F Abel, A Hua, D Ligot, L Dondon, MG Bressac-de Paillerets, B Frebourg, T Lemerle, J Bonaiti-Pellie, C Feunteun, J
Citation: A. Chompret et al., p53 germline mutations in childhood cancers and cancer risk for carrier individuals, BR J CANC, 82(12), 2000, pp. 1932-1937
Overexpression of Rab11 or constitutively active Rab11 does not affect sAPP alpha and A beta secretions by wild-type and Swedish mutated beta APP-expressing HEK293 cells
Authors: Lopez-Perez, E Dumanchin, C Czech, C Campion, D Goud, B Pradier, L Frebourg, T Checler, F
Citation: E. Lopez-perez et al., Overexpression of Rab11 or constitutively active Rab11 does not affect sAPP alpha and A beta secretions by wild-type and Swedish mutated beta APP-expressing HEK293 cells, BIOC BIOP R, 275(3), 2000, pp. 910-915
No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia
Authors: Bonnet-Brilhault, F Laurent, C Campion, D Thibaut, F Lafargue, C Charbonnier, F Deleuze, JF Menard, JF Jay, M Petit, M Frebourg, T Mallet, J
Citation: F. Bonnet-brilhault et al., No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia, EUR J HUM G, 7(2), 1999, pp. 247-250
Presenilins interact with Rab11, a small GTPase involved in the regulationof vesicular transport
Authors: Dumanchin, C Czech, C Campion, D Cuif, MH Poyot, T Martin, C Charbonnier, F Goud, B Pradier, L Frebourg, T
Citation: C. Dumanchin et al., Presenilins interact with Rab11, a small GTPase involved in the regulationof vesicular transport, HUM MOL GEN, 8(7), 1999, pp. 1263-1269
The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop
Authors: Gantier, R Dumanchin, C Campion, D Loutelier, C Lange, C Gagnon, J Davoust, D Frebourg, T Toma, F
Citation: R. Gantier et al., The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop, NEUROREPORT, 10(14), 1999, pp. 3071-3074
Unusual phenotypic alteration of beta amyloid precursor protein (beta APP)maturation by a new Val-715 -> Met beta APP-770 mutation responsible for probable early-onset Alzheimer's disease
Authors: Ancolio, K Dumanchin, C Barelli, H Warter, JM Brice, A Campion, D Frebourg, T Checler, F
Citation: K. Ancolio et al., Unusual phenotypic alteration of beta amyloid precursor protein (beta APP)maturation by a new Val-715 -> Met beta APP-770 mutation responsible for probable early-onset Alzheimer's disease, P NAS US, 96(7), 1999, pp. 4119-4124
p53 mutations in bladder tumors inactivate the transactivation of the p21 and Bax genes, and have a predictive value for the clinical outcome after bacillus Calmette-Guerin therapy
Authors: Pfister, C Flaman, JM Dunet, F Grise, P Frebourg, T
Citation: C. Pfister et al., p53 mutations in bladder tumors inactivate the transactivation of the p21 and Bax genes, and have a predictive value for the clinical outcome after bacillus Calmette-Guerin therapy, J UROL, 162(1), 1999, pp. 69-73
Risultati: 1-25 | 26-28