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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. Ashraf S, et al. Among authors: cochat p. J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25. J Clin Invest. 2013. PMID: 24270420 Free PMC article.
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M. Matejas V, et al. Among authors: cochat p. Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Hum Mutat. 2010. PMID: 20556798 Free PMC article. Review.
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O. Dorval G, et al. Among authors: cochat p. Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23. Pediatr Nephrol. 2018. PMID: 29058154
Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study.
Mekahli D, Liutkus A, Ranchin B, Yu A, Bessenay L, Girardin E, Van Damme-Lombaerts R, Palcoux JB, Cachat F, Lavocat MP, Bourdat-Michel G, Nobili F, Cochat P. Mekahli D, et al. Among authors: cochat p. Pediatr Nephrol. 2009 Aug;24(8):1525-32. doi: 10.1007/s00467-009-1138-5. Epub 2009 Mar 12. Pediatr Nephrol. 2009. PMID: 19280229
Nephronophthisis-like nephritis associated with fibrous dysplasia of bone.
Bacchetta J, Chapurlat R, Bouvier R, Antignac C, Dubourg L, Kohler R, Delmas PD, Cochat P. Bacchetta J, et al. Among authors: cochat p. Pediatr Nephrol. 2008 Sep;23(9):1559-63. doi: 10.1007/s00467-008-0850-x. Epub 2008 May 30. Pediatr Nephrol. 2008. PMID: 18512082
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Tory K, Rousset-Rouvière C, Gubler MC, Morinière V, Pawtowski A, Becker C, Guyot C, Gié S, Frishberg Y, Nivet H, Deschênes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R. Tory K, et al. Among authors: cochat p. Kidney Int. 2009 Apr;75(8):839-47. doi: 10.1038/ki.2008.662. Epub 2009 Jan 28. Kidney Int. 2009. PMID: 19177160 Free article.
482 results