Canlyniadau Chwilio - Evelyne Huynh Cong
- Dangos 1 - 5 canlyniadau o 5
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1
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome gan Kálmán Tory, Dóra K. Menyhárd, Stéphanie Woerner, Fabien Névo, Olivier Gribouval, Andrea Kerti, Pál Stráner, Christelle Arrondel, Evelyne Huynh Cong, Tivadar Tulassay, Géraldine Mollet, András Perczel, Corinne Antignac
Cyhoeddwyd 2014Carta -
2
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome gan Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie‐Claire Gubler, Zelal Ekinci, Michel Tsimaratos, B. Chabrol, Nathalie Boddaert, Alain Verloès, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoît Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac
Cyhoeddwyd 2014Artigo -
3
<i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum gan Karim Bouchireb, Olivia Boyer, Olivier Gribouval, Fabien Névo, Evelyne Huynh-Cong, Vincent Morinière, Raphaëlle Campait, Elisabet Ars, Damien Brackman, Jacques Dantal, Philippe Eckart, Maddalena Gigante, Beata S. Lipska‐Ziętkiewicz, A. Liutkus, André Mégarbané, Nabil Mohsin, Fatih Özaltın, Moin A. Saleem, Franz Schaefer, Kenza Soulami, Roser Torrá, Nicolas Garcelon, Géraldine Mollet, Karin Dahan, Corinne Antignac
Cyhoeddwyd 2013Revisão -
4
A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS gan Evelyne Huynh Cong, Albane A. Bizet, Olivia Boyer, Stéphanie Woerner, Olivier Gribouval, Emilie Filhol, Christelle Arrondel, Sophie Thomas, Flora Silbermann, Guillaume Canaud, J. Hachicha, Nasr Ben Dhia, Marie‐Noelle Péraldi, Kais Harzallah, Daouia Iftene, Laurent Daniel, Marjolaine Willems, Laure‐Hélène Noël, Christine Bôle‐Feysot, Patrick Nitschké, Marie‐Claire Gubler, Géraldine Mollet, Sophie Saunier, Corinne Antignac
Cyhoeddwyd 2014Artigo -
5
<i>INF2</i>Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy gan Olivia Boyer, Fabien Névo, Emmanuelle Plaisier, Benoît Funalot, Olivier Gribouval, Geneviève Benoît, Evelyne Huynh Cong, Christelle Arrondel, Marie-Josèphe Tête, Rodrick Montjean, Laurence Richard, Alexandre Karras, Claire Pouteil‐Noble, Leila Balafrej, Alain Bonnardeaux, Guillaume Canaud, Christophe Charasse, Jacques Dantal, Georges Deschênes, P. Deteix, O. Dubourg, Philippe Petiot, Dominique Pouthier, Eric LeGuern, Anne Guiochon‐Mantel, Isabelle Broutin, Marie‐Claire Gubler, Sophie Saunier, Pierre Ronco, Jean‐Michel Vallat, Miguel A. Alonso, Corinne Antignac, Géraldine Mollet
Cyhoeddwyd 2011Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Genetics
Endocrinology
Gene
Kidney
Nephrotic syndrome
Phenotype
Proteinuria
Mutation
Podocyte
Focal segmental glomerulosclerosis
Glomerulonephritis
Medicine
Missense mutation
Podocin
Allele
Cancer research
Cell biology
Central nervous system
Cilium
Compound heterozygosity
Exon
Glomerulopathy
Glomerulosclerosis
Internal medicine
Intraflagellar transport
Loss function
Microcephaly
Molecular biology
Mutant