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Year Number of Results
1981 1
1985 2
1986 2
1988 2
1990 1
1991 2
1992 1
1994 1
1996 1
1997 3
1999 1
2000 1
2003 1
2004 1
2005 3
2006 3
2007 6
2008 5
2009 4
2010 5
2011 4
2012 4
2013 4
2014 5
2015 5
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2018 11
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2023 1
2024 1

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96 results

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Page 1
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Morinière V, et al. Among authors: macher ma. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22. J Am Soc Nephrol. 2014. PMID: 24854265 Free PMC article.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mansour-Hendili L, et al. Among authors: macher ma. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G. Arrondel C, et al. Among authors: macher ma. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
[Access to kidney transplantation for patients with end-stage renal failure in Maghreb countries: state of art and recommendations].
Macher MA, Mongi Bacha M, Soualmia A, Laouad I, Sfar I, Jacquelinet C, Meçabih F, Younous S, Bayar R, Ziadi J, Nebab AK, Barry N, Nouvellon H, Gozzerino A, Durin L, Ben Abdallah T, Tsimaratos M. Macher MA, et al. Nephrol Ther. 2024 Feb 28;20(1):30-40. doi: 10.1684/ndt.2024.62. Epub 2024 Feb 5. Nephrol Ther. 2024. PMID: 38314548 Review. French.
[ESRD in children and adolescents].
Harambat J, Hogan J, Macher MA, Couchoud C; registre du REIN. Harambat J, et al. Among authors: macher ma. Nephrol Ther. 2013 Sep;9 Suppl 1:S167-79. doi: 10.1016/S1769-7255(13)70044-0. Nephrol Ther. 2013. PMID: 24119580 French.
Treatment and outcome of congenital nephrotic syndrome.
Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, Boyer O. Bérody S, et al. Among authors: macher ma. Nephrol Dial Transplant. 2019 Mar 1;34(3):458-467. doi: 10.1093/ndt/gfy015. Nephrol Dial Transplant. 2019. PMID: 29474669
[Perspectives for future development of the kidney paired donation programme in France].
Combe J, Hiller V, Tercieux O, Audry B, Baudet J, Malaquin G, Kerbaul F, Antoine C, Macher MA, Jacquelinet C, Bastien O, Pastural M. Combe J, et al. Among authors: macher ma. Nephrol Ther. 2022 Jul;18(4):270-277. doi: 10.1016/j.nephro.2022.02.001. Epub 2022 Jun 27. Nephrol Ther. 2022. PMID: 35773141 Free article. French.
[Current treatment of renal osteodystrophy in children].
Macher MA, Baudouin V, Akil R, Loirat C. Macher MA, et al. Arch Pediatr. 1997;4(2 Suppl 2):91s-94s. doi: 10.1016/s0929-693x(97)86470-6. Arch Pediatr. 1997. PMID: 9246312 Review. French. No abstract available.
96 results