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Page 1
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: janssen f. Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Hum Mutat. 2010. PMID: 20556798 Free PMC article. Review.
WT1 gene mutations in three girls with nephrotic syndrome.
Ismaili K, Verdure V, Vandenhoute K, Janssen F, Hall M. Ismaili K, et al. Among authors: janssen f. Eur J Pediatr. 2008 May;167(5):579-81. doi: 10.1007/s00431-007-0514-z. Epub 2007 Jun 1. Eur J Pediatr. 2008. PMID: 17541636
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
Harambat J, Fargue S, Acquaviva C, Gagnadoux MF, Janssen F, Liutkus A, Mourani C, Macher MA, Abramowicz D, Legendre C, Durrbach A, Tsimaratos M, Nivet H, Girardin E, Schott AM, Rolland MO, Cochat P. Harambat J, et al. Among authors: janssen f. Kidney Int. 2010 Mar;77(5):443-9. doi: 10.1038/ki.2009.435. Epub 2009 Dec 16. Kidney Int. 2010. PMID: 20016466 Free article.
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Fargue S, Harambat J, Gagnadoux MF, Tsimaratos M, Janssen F, Llanas B, Berthélémé JP, Boudailliez B, Champion G, Guyot C, Macher MA, Nivet H, Ranchin B, Salomon R, Taque S, Rolland MO, Cochat P. Fargue S, et al. Among authors: janssen f. Kidney Int. 2009 Oct;76(7):767-73. doi: 10.1038/ki.2009.237. Epub 2009 Jul 1. Kidney Int. 2009. PMID: 19571789 Free article.
Update on congenital nephrotic syndromes and the contribution of US.
Avni EF, Vandenhoute K, Devriendt A, Ismaili K, Hackx M, Janssen F, Hall M. Avni EF, et al. Among authors: janssen f. Pediatr Radiol. 2011 Jan;41(1):76-81. doi: 10.1007/s00247-010-1793-5. Epub 2010 Aug 17. Pediatr Radiol. 2011. PMID: 20714714 Review.
328 results