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Results: 1-22 |
Results: 22
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations
Authors: Mansour, I Delague, V Cazeneuve, C Dode, C Chouery, E Pecheux, C Medlej-Hashim, M Salem, N El Zein, L Levan-Petit, I Lefranc, G Goossens, M Delpech, M Amselem, S Loiselet, J Grateau, G Megarbane, A Naman, R
Citation: I. Mansour et al., Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations, EUR J HUM G, 9(1), 2001, pp. 51-55
Efficient treatment of murine systemic infection with Candida albicans using amphotericin B incorporated in nanosize range particles (emulsomes)
Authors: Kretschmar, M Amselem, S Zawoznik, E Mosbach, K Dietz, A Hof, H Nichterlein, T
Citation: M. Kretschmar et al., Efficient treatment of murine systemic infection with Candida albicans using amphotericin B incorporated in nanosize range particles (emulsomes), MYCOSES, 44(7-8), 2001, pp. 281-286
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
Authors: Sternberg, D Chatzoglou, E Laforet, P Fayet, G Jardel, C Blondy, P Fardeau, M Amselem, S Eymard, B Lombes, A
Citation: D. Sternberg et al., Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders, BRAIN, 124, 2001, pp. 984-994
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4
Authors: Machinis, K Pantel, J Netchine, I Leger, J Camand, OJA Sobrier, ML Dastot-Le Moal, F Duquesnoy, P Abitbol, M Czernichow, P Amselem, S
Citation: K. Machinis et al., Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4, AM J HU GEN, 69(5), 2001, pp. 961-968
Perspectives on the molecular basis of developmental defects in the human pituitary region
Authors: Amselem, S
Citation: S. Amselem, Perspectives on the molecular basis of developmental defects in the human pituitary region, ENDOCR DEV, 4, 2001, pp. 30-47
Clinical versus genetic diagnosis of familial Mediterranean fever
Authors: Grateau, G Pecheux, C Cazeneuve, C Cattan, D Dervichian, M Goossens, M Delpech, M Amselem, S Dode, C
Citation: G. Grateau et al., Clinical versus genetic diagnosis of familial Mediterranean fever, QJM-MON J A, 93(4), 2000, pp. 223-229
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
Authors: Netchine, I Sobrier, ML Krude, H Schnabel, D Maghnie, M Marcos, E Duriez, B Cacheux, V von Moers, A Goossens, M Gruters, A Amselem, S
Citation: I. Netchine et al., Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency, NAT GENET, 25(2), 2000, pp. 182-186
Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus
Authors: Papin, S Duquesnoy, P Cazeneuve, C Pantel, J Coppey-Moisan, M Dargemont, C Amselem, S
Citation: S. Papin et al., Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus, HUM MOL GEN, 9(20), 2000, pp. 3001-3009
The human dynein intermediate chain 2 gene (DNA12): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia
Authors: Pennarun, G Chapelin, C Escudier, E Bridoux, AM Dastot, F Cacheux, V Goossens, M Amselem, S Duriez, B
Citation: G. Pennarun et al., The human dynein intermediate chain 2 gene (DNA12): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia, HUM GENET, 107(6), 2000, pp. 642-649
Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
Authors: Dode, C Pecheux, C Cazeneuve, C Cattan, D Dervichian, M Goossens, M Delpech, M Amselem, S Grateau, G
Citation: C. Dode et al., Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever, AM J MED G, 92(4), 2000, pp. 241-246
Species-specific alternative splice mimicry at the growth hormone receptorlocus revealed by the lineage of retroelements during primate evolution - A novel mechanism accounting for protein diversity between and within species
Authors: Pantel, J Machinis, K Sobrier, ML Duquesnoy, P Goossens, M Amselem, S
Citation: J. Pantel et al., Species-specific alternative splice mimicry at the growth hormone receptorlocus revealed by the lineage of retroelements during primate evolution - A novel mechanism accounting for protein diversity between and within species, J BIOL CHEM, 275(25), 2000, pp. 18664-18669
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever
Authors: Cazeneuve, C Ajrapetyan, H Papin, S Roudot-Thoraval, F Genevieve, D Mndjoyan, E Papazian, M Sarkisian, A Babloyan, A Boissier, B Duquesnoy, P Kouyoumdjian, JC Girodon-Boulandet, E Grateau, G Sarkisian, T Amselem, S
Citation: C. Cazeneuve et al., Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever, AM J HU GEN, 67(5), 2000, pp. 1136-1143
Defects of the growth hormone receptor and their clinical implications
Authors: Savage, MO Woods, KA Johnston, LB Postel-Vinay, MC Amselem, S Clark, AJL
Citation: Mo. Savage et al., Defects of the growth hormone receptor and their clinical implications, GROWTH H I, 9, 1999, pp. 57-61
Relationship between phenotype and genotype in growth hormone insensitivity syndrome
Authors: Woods, KA Clark, AJL Amselem, S Savage, MO
Citation: Ka. Woods et al., Relationship between phenotype and genotype in growth hormone insensitivity syndrome, ACT PAEDIAT, 88, 1999, pp. 158-162
Hemochromatosis C282Y mutation and histological fibrosis in patients with C virus chronic hepatitis
Authors: Hezode, C Cazeneuve, C Coue, O Roudot-Thoraval, F Pawlotsky, JM Zafrani, ES Amselem, S Dhumeaux, D
Citation: C. Hezode et al., Hemochromatosis C282Y mutation and histological fibrosis in patients with C virus chronic hepatitis, HEPATOLOGY, 29(4), 1999, pp. 1338-1338
Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions
Authors: Hezode, C Cazeneuve, C Coue, O Roudot-Thoraval, F Lonjon, I Bastie, A Duvoux, C Pawlotsky, JM Zafrani, ES Amselem, S Dhumeaux, D
Citation: C. Hezode et al., Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions, J HEPATOL, 31(6), 1999, pp. 979-984
The human growth hormone (GH) receptor and its truncated isoform: Sulfhydryl group inactivation in the study of receptor internalization and GH-binding protein generation
Authors: Amit, T Bar-Am, G Dastot, F Youdim, MBH Amselem, S Hochberg, Z
Citation: T. Amit et al., The human growth hormone (GH) receptor and its truncated isoform: Sulfhydryl group inactivation in the study of receptor internalization and GH-binding protein generation, ENDOCRINOL, 140(1), 1999, pp. 266-272
French Society for Human Genetics. "Genetics in Practice" Commission. Corescientific data of use in genetic counseling. Familial Mediterranean fever.
Authors: Cazeneuve, C Dode, C Delpech, M Touitou, I Grateau, G Amselem, S
Citation: C. Cazeneuve et al., French Society for Human Genetics. "Genetics in Practice" Commission. Corescientific data of use in genetic counseling. Familial Mediterranean fever., ANN GENET, 42(4), 1999, pp. 241-245
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
Authors: Pennarun, G Escudier, E Chapelin, C Bridoux, AM Cacheux, V Roger, G Clement, A Goossens, M Amselem, S Duriez, B
Citation: G. Pennarun et al., Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia, AM J HU GEN, 65(6), 1999, pp. 1508-1519
Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection
Authors: Danan, C Sternberg, D Van Steirteghem, A Cazeneuve, C Duquesnoy, P Besmond, C Goossens, M Lissens, W Amselem, S
Citation: C. Danan et al., Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection, AM J HU GEN, 65(2), 1999, pp. 463-473
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
Authors: Cazeneuve, C Sarkisian, T Pecheux, C Dervichian, M Nedelec, B Reinert, P Ayvazyan, A Kouyoumdjian, JC Ajrapetyan, H Delpech, M Goossens, M Dode, C Grateau, G Amselem, S
Citation: C. Cazeneuve et al., 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, AM J HU GEN, 65(1), 1999, pp. 88-97
Phenotype heterogeneity in inherited growth hormone insensitivity.
Authors: Savage, MO Woods, KA Clark, AJL Amselem, S
Citation: Mo. Savage et al., Phenotype heterogeneity in inherited growth hormone insensitivity., ARCH PED, 5, 1998, pp. 364S-370S
Risultati: 1-22 |