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Page 1
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: labrune p. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Increased paternal age in CHARGE association.
Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: labrune p. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897
Progressive development of renal cysts in glycogen storage disease type I.
Gjorgjieva M, Raffin M, Duchampt A, Perry A, Stefanutti A, Brevet M, Tortereau A, Dubourg L, Hubert-Buron A, Mabille M, Pelissou C, Lassalle L, Labrune P, Mithieux G, Rajas F. Gjorgjieva M, et al. Among authors: labrune p. Hum Mol Genet. 2016 Sep 1;25(17):3784-3797. doi: 10.1093/hmg/ddw224. Epub 2016 Jul 19. Hum Mol Genet. 2016. PMID: 27436577
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.
Levaillant JM, Moeglin D, Zouiten K, Bucourt M, Burglen L, Soupre V, Baumann C, Jaquemont ML, Touraine R, Picard A, Vuillard E, Belarbi N, Oury JF, Verloes A, Vazquez MP, Labrune P, Delezoide AL, Gérard-Blanluet M. Levaillant JM, et al. Among authors: labrune p. Prenat Diagn. 2009 Feb;29(2):140-50. doi: 10.1002/pd.2167. Prenat Diagn. 2009. PMID: 19156647
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group. Magré J, et al. Among authors: labrune p. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Nat Genet. 2001. PMID: 11479539
239 results