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Page 1
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui LC, Berthelet J, Laurent A, Crickx E, Parlato M, Stolzenberg MC, Suarez F, Leverger G, Aladjidi N, Collardeau-Frachon S, Pietrement C, Malphettes M, Froissart A, Bole-Feysot C, Cagnard N, Rodrigues Lima F, Walzer T, Rieux-Laucat F, Belot A, Mathieu AL. Jeanpierre M, et al. Among authors: pietrement c. J Exp Med. 2024 Sep 2;221(9):e20232337. doi: 10.1084/jem.20232337. Epub 2024 Jul 19. J Exp Med. 2024. PMID: 39028869
Tularemia: A rare cause of pediatric lymph nodes adenitis.
Cognard J, Falque L, Zimmermann B, Pietrement C. Cognard J, et al. Among authors: pietrement c. Arch Pediatr. 2021 Oct;28(7):580-582. doi: 10.1016/j.arcped.2021.08.005. Epub 2021 Sep 9. Arch Pediatr. 2021. PMID: 34511278
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C. Heidet L, et al. Among authors: pietrement c. J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31. J Am Soc Nephrol. 2017. PMID: 28566479 Free PMC article.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: pietrement c. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C. De Tomasi L, et al. Among authors: pietrement c. Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026. Am J Hum Genet. 2017. PMID: 29100091 Free PMC article.
Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study.
Sacri AS, Chambaraud T, Ranchin B, Florkin B, Sée H, Decramer S, Flodrops H, Ulinski T, Allain-Launay E, Boyer O, Dunand O, Fischbach M, Hachulla E, Pietrement C, Le Pogamp P, Stephan JL, Belot A, Nivet H, Nobili F, Guillevin L, Quartier P, Deschênes G, Salomon R, Essig M, Harambat J. Sacri AS, et al. Among authors: pietrement c. Nephrol Dial Transplant. 2015 Apr;30 Suppl 1:i104-12. doi: 10.1093/ndt/gfv011. Epub 2015 Feb 12. Nephrol Dial Transplant. 2015. PMID: 25676121
Pediatric ANCA vasculitis: clinical presentation, treatment, and outcomes in a French retrospective study.
Mahi SL, Bahram S, Harambat J, Allard L, Merlin E, Belot A, Ranchin B, Tenenbaum J, Magnavacca M, Haumesser L, Allain-Launay E, Pietrement C, Flodrops H, Ruin M, Dossier C, Decramer S, Ballot-Schmitt C, Boyer OG, Seugé L, Ulinski T, Zaloszyc A. Mahi SL, et al. Among authors: pietrement c. Pediatr Nephrol. 2023 Aug;38(8):2649-2658. doi: 10.1007/s00467-022-05855-0. Epub 2023 Jan 9. Pediatr Nephrol. 2023. PMID: 36622443
Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease.
Klein J, Buffin-Meyer B, Boizard F, Moussaoui N, Lescat O, Breuil B, Fedou C, Feuillet G, Casemayou A, Neau E, Hindryckx A, Decatte L, Levtchenko E, Raaijmakers A, Vayssière C, Goua V, Lucas C, Perrotin F, Cloarec S, Benachi A, Manca-Pellissier MC, Delmas HL, Bessenay L, Le Vaillant C, Allain-Launay E, Gondry J, Boudailliez B, Simon E, Prieur F, Lavocat MP, Saliou AH, De Parscau L, Bidat L, Noel C, Floch C, Bourdat-Michel G, Favre R, Weingertner AS, Oury JF, Baudouin V, Bory JP, Pietrement C, Fiorenza M, Massardier J, Kessler S, Lounis N, Auriol FC, Marcorelles P, Collardeau-Frachon S, Zürbig P, Mischak H, Magalhães P, Batut J, Blader P, Saulnier Blache JS, Bascands JL, Schaefer F, Decramer S, Schanstra JP; BIOMAN consortium. Klein J, et al. Among authors: pietrement c. Kidney Int. 2021 Mar;99(3):737-749. doi: 10.1016/j.kint.2020.06.043. Epub 2020 Aug 1. Kidney Int. 2021. PMID: 32750455
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: pietrement c. Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23. Pediatr Nephrol. 2018. PMID: 29058154
Efficacy and safety of intravenous immunoglobulin with rituximab versus rituximab alone in childhood-onset steroid-dependent and frequently relapsing nephrotic syndrome: protocol for a multicentre randomised controlled trial.
Hogan J, Perez A, Sellier-Leclerc AL, Vrillon I, Broux F, Nobili F, Harambat J, Bessenay L, Audard V, Faudeux C, Morin D, Pietrement C, Tellier S, Djeddi D, Eckart P, Lahoche A, Roussey-Kesler G, Ulinski T, Boyer O, Plaisier E, Cloarec S, Jolivot A, Guigonis V, Guilmin-Crepon S, Baudouin V, Dossier C, Deschênes G. Hogan J, et al. Among authors: pietrement c. BMJ Open. 2020 Sep 23;10(9):e037306. doi: 10.1136/bmjopen-2020-037306. BMJ Open. 2020. PMID: 32967877 Free PMC article.
81 results