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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 1
2011 8
2012 12
2013 14
2014 11
2015 17
2016 10
2017 19
2018 23
2019 6
2020 14
2021 8
2022 8
2023 9
2024 1

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148 results

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Page 1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Among authors: nitschke p. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: nitschke p. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. J Clin Invest. 2020. PMID: 31613795 Free PMC article. Clinical Trial.
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: nitschke p. 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.
A wave of deep intronic mutations in X-linked Alport syndrome.
Boisson M, Arrondel C, Cagnard N, Morinière V, Arkoub ZA, Saei H, Heidet L, Kachmar J, Hummel A, Knebelmann B, Bonnet-Dupeyron MN, Isidor B, Izzedine H, Legrand E, Couarch P, Gribouval O, Bole-Feysot C, Parisot M, Nitschké P, Antignac C, Dorval G. Boisson M, et al. Among authors: nitschke p. Kidney Int. 2023 Aug;104(2):367-377. doi: 10.1016/j.kint.2023.05.006. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230224 Free article.
Mutations in BOREALIN cause thyroid dysgenesis.
Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M. Carré A, et al. Among authors: nitschke p. Hum Mol Genet. 2017 Feb 1;26(3):599-610. doi: 10.1093/hmg/ddw419. Hum Mol Genet. 2017. PMID: 28025328 Free PMC article.
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
Girard M, Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, Jeanpierre C, Henry C, Fabre M, Viremouneix L, Galmiche L, Debray D, Bole-Feysot C, Nitschke P, Pariente D, Guettier C, Lyonnet S, Heidet L, Bertholet A, Jacquemin E, Henrion-Caude A, Saunier S. Girard M, et al. Among authors: nitschke p. Hum Mutat. 2016 Oct;37(10):1025-9. doi: 10.1002/humu.23031. Epub 2016 Aug 24. Hum Mutat. 2016. PMID: 27319779
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T. Ruaud L, et al. Among authors: nitschke p. Birth Defects Res. 2022 Jun;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15. Birth Defects Res. 2022. PMID: 35426486 Review.
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
Saei H, Morinière V, Heidet L, Gribouval O, Lebbah S, Tores F, Mautret-Godefroy M, Knebelmann B, Burtey S, Vuiblet V, Antignac C, Nitschké P, Dorval G. Saei H, et al. Among authors: nitschke p. iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. eCollection 2023 Jul 21. iScience. 2023. PMID: 37456840 Free PMC article.
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, Bole-Feysot C, Malan V, Caron B, Nitschké P, Desguerre I, Boddaert N, Rio M, Rausell A, Cantagrel V. Nicolle R, et al. Among authors: nitschke p. BMC Med Genomics. 2023 Jun 21;16(1):143. doi: 10.1186/s12920-023-01582-z. BMC Med Genomics. 2023. PMID: 37344844 Free PMC article.
148 results