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Results: 1-24 |
Results: 24
Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses
Authors: Daikha-Dahmane, F Dommergues, M Narcy, F Gubler, MC Dumez, Y Gauthier, E Nordmann, Y Nessmann, C Terrasse, G Muller, F
Citation: F. Daikha-dahmane et al., Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses, PEDIATR D P, 4(2), 2001, pp. 180-184
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
Authors: Heidet, L Arrondel, C Forestier, L Cohen-Solal, L Mollet, G Gutierrez, B Stavrou, C Gubler, MC Antignac, C
Citation: L. Heidet et al., Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome, J AM S NEPH, 12(1), 2001, pp. 97-106
Pathogenesis of twin-twin transfusion syndrome: The renin-angiotensin system hypothesis
Authors: Mahieu-Caputo, D Muller, F Joly, D Gubler, MC Lebidois, J Fermont, L Dumez, Y Dommergues, M
Citation: D. Mahieu-caputo et al., Pathogenesis of twin-twin transfusion syndrome: The renin-angiotensin system hypothesis, FETAL DIAGN, 16(4), 2001, pp. 241-244
Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis
Authors: Yang, YX Zhang, SY Sich, M Beziau, A van den Heuvel, LPWJ Gubler, MC
Citation: Yx. Yang et al., Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis, PED NEPHROL, 16(5), 2001, pp. 429-438
Contribution of genetics to knowledge and management of hereditary renal diseases progressing to renal failure
Authors: Levy, M Gubler, MC Feingold, J
Citation: M. Levy et al., Contribution of genetics to knowledge and management of hereditary renal diseases progressing to renal failure, ARCH PED, 8(10), 2001, pp. 1086-1098
Fetal toxic effects and angiotensin-II-receptor antagonists
Authors: Martinovic, J Benachi, A Laurent, N Daikha-Dahmane, F Gubler, MC
Citation: J. Martinovic et al., Fetal toxic effects and angiotensin-II-receptor antagonists, LANCET, 358(9277), 2001, pp. 241-242
Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation
Authors: Hammes, A Guo, JK Lutsch, G Leheste, JR Landrock, D Ziegler, U Gubler, MC Schedl, A
Citation: A. Hammes et al., Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation, CELL, 106(3), 2001, pp. 319-329
PAX2 mutations in oligomeganephronia
Authors: Salomon, R Tellier, AL Attie-Bitach, T Amiel, J Vekemans, M Lyonnet, S Dureau, P Niaudet, P Gubler, MC Broyer, M
Citation: R. Salomon et al., PAX2 mutations in oligomeganephronia, KIDNEY INT, 59(2), 2001, pp. 457-462
Detection of apoptosis in kidney biopsies of patients with D+ hemolytic uremic syndrome
Authors: Maroeska, D Loo, WMT Monnens, LAH Van den Heuvel, LPWJ Gubler, MC Kockx, MM
Citation: D. Maroeska et al., Detection of apoptosis in kidney biopsies of patients with D+ hemolytic uremic syndrome, PEDIAT RES, 49(3), 2001, pp. 413-416
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Authors: Boute, N Gribouval, O Roselli, S Benessy, F Lee, H Fuchshuber, A Dahan, K Gubler, MC Niaudet, P Antignac, C
Citation: N. Boute et al., NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome, NAT GENET, 24(4), 2000, pp. 349-354
X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males
Authors: Jais, JP Knebelmann, B Giatras, I De Marchi, M Rizzoni, G Renieri, A Weber, M Gross, O Netzer, KO Flinter, F Pirson, Y Verellen, C Wieslander, J Persson, U Tryggvason, K Martin, P Hertz, JM Schroder, C Sanak, M Krejcova, S Carvalho, MF Saus, J Antignac, C Smeets, H Gubler, MC
Citation: Jp. Jais et al., X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males, J AM S NEPH, 11(4), 2000, pp. 649-657
Genetics of the nephrotic syndrome
Authors: Salomon, R Gubler, MC Niaudet, P
Citation: R. Salomon et al., Genetics of the nephrotic syndrome, CURR OP PED, 12(2), 2000, pp. 129-134
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism
Authors: Amiel, J Audollent, S Joly, D Dureau, P Salomon, R Tellier, AL Auge, J Bouissou, F Antignac, C Gubler, MC Eccles, MR Munnich, A Vekemans, M Lyonnet, S Attie-Bitach, T
Citation: J. Amiel et al., PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism, EUR J HUM G, 8(11), 2000, pp. 820-826
Prenatal diagnosis in autosomal recessive polycystic kidney disease
Authors: Gagnadoux, MF Attie, T Amiel, J Gigarel, N Bonnefont, JP Munnich, A Gubler, MC Antignac, C
Citation: Mf. Gagnadoux et al., Prenatal diagnosis in autosomal recessive polycystic kidney disease, ARCH PED, 7(9), 2000, pp. 942-947
Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis
Authors: Garcia-Torres, R Cruz, D Orozco, L Heidet, L Gubler, MC
Citation: R. Garcia-torres et al., Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis, NEPHROLOGIE, 21(1), 2000, pp. 9-12
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis
Authors: Denamur, E Bocquet, N Baudouin, V Da Silva, F Veitia, R Peuchmaur, M Elion, J Gubler, MC Fellous, M Niaudet, P Loirat, C
Citation: E. Denamur et al., WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis, KIDNEY INT, 57(5), 2000, pp. 1868-1872
Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys
Authors: Heidet, L Cai, Y Guicharnaud, L Antignac, C Gubler, MC
Citation: L. Heidet et al., Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys, AM J PATH, 156(6), 2000, pp. 1901-1910
Twin-to-twin transfusion syndrome - Role of the fetal renin-angiotensin system
Authors: Mahieu-Caputo, D Dommergues, M Delezoide, AL Lacoste, M Cai, Y Narcy, F Jolly, D Gonzales, M Dumez, Y Gubler, MC
Citation: D. Mahieu-caputo et al., Twin-to-twin transfusion syndrome - Role of the fetal renin-angiotensin system, AM J PATH, 156(2), 2000, pp. 629-636
Chronic renal failure after Puumala virus infection
Authors: Novo, R Gagnadoux, MF Le Guenno, Y Gubler, MC Niaudet, P Guyot, C Broyer, M
Citation: R. Novo et al., Chronic renal failure after Puumala virus infection, PED NEPHROL, 13(9), 1999, pp. 934-935
Crescentic glomerulonephritis in hyper IgD syndrome
Authors: Tsimaratos, M Kone-Paut, I Daniel, L Gubler, MC Dussol, B Picon, G
Citation: M. Tsimaratos et al., Crescentic glomerulonephritis in hyper IgD syndrome, PED NEPHROL, 13(2), 1999, pp. 132-134
Renal artery stenosis in pediatric patients: diagnosis and management.
Authors: Novo, R Soto, B Gubler, MC Broyer, M
Citation: R. Novo et al., Renal artery stenosis in pediatric patients: diagnosis and management., ANN PEDIAT, 46(2), 1999, pp. 91-97
Factor H deficiency and renal involvement.
Authors: Niaudet, P Dudley, J Soto, B May, A Levy, M Gubler, MC Weiss, L
Citation: P. Niaudet et al., Factor H deficiency and renal involvement., ANN PEDIAT, 46(2), 1999, pp. 99-103
Risk of primary disease recurrence in pediatric renal transplantation
Authors: Gagnadoux, MF Niaudet, P Droz, D Gubler, MC Broyer, M
Citation: Mf. Gagnadoux et al., Risk of primary disease recurrence in pediatric renal transplantation, TRANSPLAN P, 31(1-2), 1999, pp. 235-235
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis
Authors: Yang, YX Jeanpierre, C Dressler, GR Lacoste, M Niaudet, P Gubler, MC
Citation: Yx. Yang et al., WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis, AM J PATH, 154(1), 1999, pp. 181-192
Risultati: 1-24 |