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Page 1
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.
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. Among authors: macher ma. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. Delous M, et al. Among authors: macher ma. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558409
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R. Brochard K, et al. Among authors: macher ma. Nephrol Dial Transplant. 2009 May;24(5):1455-64. doi: 10.1093/ndt/gfn689. Epub 2008 Dec 18. Nephrol Dial Transplant. 2009. PMID: 19096086
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C. Boyer O, et al. Among authors: macher ma. J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166. J Med Genet. 2010. PMID: 20591883 Free article.
C3 nephritic factor associated with C3 glomerulopathy in children.
Nicolas C, Vuiblet V, Baudouin V, Macher MA, Vrillon I, Biebuyck-Gouge N, Dehennault M, Gié S, Morin D, Nivet H, Nobili F, Ulinski T, Ranchin B, Marinozzi MC, Ngo S, Frémeaux-Bacchi V, Pietrement C. Nicolas C, et al. Among authors: macher ma. Pediatr Nephrol. 2014 Jan;29(1):85-94. doi: 10.1007/s00467-013-2605-6. Epub 2013 Sep 26. Pediatr Nephrol. 2014. PMID: 24068526
Renal function can be impaired in children with primary hyperoxaluria type 3.
Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J. Allard L, et al. Among authors: macher ma. Pediatr Nephrol. 2015 Oct;30(10):1807-13. doi: 10.1007/s00467-015-3090-x. Epub 2015 May 14. Pediatr Nephrol. 2015. PMID: 25972204 Free article.
Age-Dependent Risk of Graft Failure in Young Kidney Transplant Recipients.
Kaboré R, Couchoud C, Macher MA, Salomon R, Ranchin B, Lahoche A, Roussey-Kesler G, Garaix F, Decramer S, Pietrement C, Lassalle M, Baudouin V, Cochat P, Niaudet P, Joly P, Leffondré K, Harambat J. Kaboré R, et al. Among authors: macher ma. Transplantation. 2017 Jun;101(6):1327-1335. doi: 10.1097/TP.0000000000001372. Transplantation. 2017. PMID: 27482961
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
Patient and transplant outcome in infants starting renal replacement therapy before 2 years of age.
Hogan J, Bacchetta J, Charbit M, Roussey G, Novo R, Tsimaratos M, Terzic J, Ulinski T, Garnier A, Merieau E, Harambat J, Vrillon I, Dunand O, Morin D, Berard E, Nobili F, Couchoud C, Macher MA; French Pediatric Nephrology Society. Hogan J, et al. Among authors: macher ma. Nephrol Dial Transplant. 2018 Aug 1;33(8):1459-1465. doi: 10.1093/ndt/gfy040. Nephrol Dial Transplant. 2018. PMID: 29617835
97 results