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Results: 1-17 |
Results: 17
A melanoma-associated germline mutation in exon 1 beta inactivates p14ARF
Authors: Rizos, H Puig, S Badenas, C Malvehy, J Darmanian, AP Jimenez, L Mila, M Kefford, RF
Citation: H. Rizos et al., A melanoma-associated germline mutation in exon 1 beta inactivates p14ARF, ONCOGENE, 20(39), 2001, pp. 5543-5547
Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21
Authors: Badenas, C Castellvi-Bel, S Volpini, V Jimenez, D Sanchez, A Estivill, X Mila, M
Citation: C. Badenas et al., Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21, AM J MED G, 98(4), 2001, pp. 343-347
Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients
Authors: Badenas, C Torra, R Perez-Oller, L Mallolas, J Talbot-Wright, R Torregrosa, V Darnell, A
Citation: C. Badenas et al., Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients, EUR J HUM G, 8(7), 2000, pp. 487-492
Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form
Authors: Nicolau, C Torra, R Badenas, C Perez, L Oliver, JA Darnell, A Bru, C
Citation: C. Nicolau et al., Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form, NEPH DIAL T, 15(9), 2000, pp. 1373-1378
Rare variants in the promoter of the fragile X syndrome gene (FMR1)
Authors: Mila, M Castellvi-Bel, S Sanchez, A Barcelo, A Badenas, C Mallolas, J Estivill, X
Citation: M. Mila et al., Rare variants in the promoter of the fragile X syndrome gene (FMR1), MOL CELL PR, 14(2), 2000, pp. 115-119
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients
Authors: Torra, R Badenas, C Perez-Oller, L Luis, J Millan, S Nicolau, C Oppenheimer, F Mila, M Darnell, A
Citation: R. Torra et al., Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients, AM J KIDNEY, 36(4), 2000, pp. 728-734
Loss of heterozygosity and somatic mutations in autosomal dominant polycystic kidney disease types I and II. Demonstration of a recessive mechanism at the cellular level in cyst formation
Authors: Perez-Oller, L Torra, R Badenas, C San Millan, JL Darnell, A
Citation: L. Perez-oller et al., Loss of heterozygosity and somatic mutations in autosomal dominant polycystic kidney disease types I and II. Demonstration of a recessive mechanism at the cellular level in cyst formation, NEFROLOGIA, 20(2), 2000, pp. 130-138
Mutational analysis of PKD1 and PKD2 genes (autosomal dominant polycystic disease type 1 and 2)
Authors: Torra, R Badenas, C Perez-Oller, L San Millan, JL Telleria, D Estivill, X Darnell, A
Citation: R. Torra et al., Mutational analysis of PKD1 and PKD2 genes (autosomal dominant polycystic disease type 1 and 2), NEFROLOGIA, 20(1), 2000, pp. 39-46
Molecular study of the PAK3 and GDI1 genes in nonsyndromic X-linked mentalretardation Spanish patients
Authors: Rife, M Mallolas, J Castellvi-Bel, S Badenas, C Jimenez, D Mila, M
Citation: M. Rife et al., Molecular study of the PAK3 and GDI1 genes in nonsyndromic X-linked mentalretardation Spanish patients, AM J MED G, 94(5), 2000, pp. 389-391
Some improvements on the processes to obtain accurate maps of Sea Surface Temperature from AVHRR raw data transmitted in real time. Part 1: HRPT images. (vol 18, pg 1743, 1997)
Authors: Badenas, C Casselles, V Estrella, MJ Marchuet, R
Citation: C. Badenas et al., Some improvements on the processes to obtain accurate maps of Sea Surface Temperature from AVHRR raw data transmitted in real time. Part 1: HRPT images. (vol 18, pg 1743, 1997), INT J REMOT, 21(5), 2000, pp. 1079-1079
Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families
Authors: Torra, R Badenas, C Cofan, F Callis, L Perez-Oller, L Darnell, A
Citation: R. Torra et al., Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families, NEPH DIAL T, 14(3), 1999, pp. 627-630
Influence of the ACE gene polymorphism in the progression of renal failurein autosomal dominant polycystic kidney disease
Authors: Perez-Oller, L Torra, R Badenas, C Mila, M Darnell, A
Citation: L. Perez-oller et al., Influence of the ACE gene polymorphism in the progression of renal failurein autosomal dominant polycystic kidney disease, AM J KIDNEY, 34(2), 1999, pp. 273-278
Single-strand conformation polymorphism analysis in the FMR1 gene
Authors: Castellvi-Bel, S Sanchez, A Badenas, C Mallolas, J Barcelo, A Jimenez, D Villa, M Estivill, X Mila, M
Citation: S. Castellvi-bel et al., Single-strand conformation polymorphism analysis in the FMR1 gene, AM J MED G, 84(3), 1999, pp. 262-265
Seven novel mutations of the PKD2 gene in families with autosomal dominantpolycystic kidney disease
Authors: Torra, P Viribay, M Telleria, D Badenas, C Watson, M Harris, P Darnell, A San Millan, JL
Citation: P. Torra et al., Seven novel mutations of the PKD2 gene in families with autosomal dominantpolycystic kidney disease, KIDNEY INT, 56(1), 1999, pp. 28-33
Mutational analysis within the 3 ' region of the PKD1 gene
Authors: Badenas, C Torra, R San Millan, JL Lucero, L Mila, M Estivill, X Darnell, A
Citation: C. Badenas et al., Mutational analysis within the 3 ' region of the PKD1 gene, KIDNEY INT, 55(4), 1999, pp. 1225-1233
Autosomal dominant polycystic kidney disease types 1 and 2: Assessment of US sensitivity for diagnosis
Authors: Nicolau, C Torra, R Badenas, C Vilana, R Bianchi, L Gilabert, R Darnell, A Bru, C
Citation: C. Nicolau et al., Autosomal dominant polycystic kidney disease types 1 and 2: Assessment of US sensitivity for diagnosis, RADIOLOGY, 213(1), 1999, pp. 273-276
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2
Authors: Torra, R Badenas, C San Millan, JL Perez-Oller, L Estivill, X Darnell, A
Citation: R. Torra et al., A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2, AM J HU GEN, 65(2), 1999, pp. 345-352
Risultati: 1-17 |