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Page 1
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Kachmar J, Saei H, Morinière V, Heidet L, Knebelmann B, Gribouval O, Mautret-Godefroy M, Burtey S, Vuiblet V, Alla A, Ibalanky A, Moranne O, Nizon M, Savenkoff B, Nitschké P, Antignac C, Dorval G. Kachmar J, et al. Among authors: nitschke p. Am J Kidney Dis. 2025 Jan 21:S0272-6386(25)00038-1. doi: 10.1053/j.ajkd.2024.11.010. Online ahead of print. Am J Kidney Dis. 2025. PMID: 39848530
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.
Stoupa A, Kariyawasam D, Jabot-Hanin F, Quoc AN, Hanein S, Rabeony T, Elie C, Colas S, Thalassinos C, Oliver-Petit I, Houang M, Coutant R, Barat P, Nicolino M, Reynaud R, de Kerdanet M, Signor CB, Baron S, Raynaud-Ravni C, Souchon PF, Léger J, Castanet M, Bole-Feysot C, Nitschke P, Lyonnet S, Polak M, Carré A. Stoupa A, et al. Among authors: nitschke p. J Clin Endocrinol Metab. 2025 Jan 9:dgaf004. doi: 10.1210/clinem/dgaf004. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39787321
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.
Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschké P, Hully M, Roux CJ, Lemoine M, Rio M, Boddaert N, Courtin T, Cantagrel V. Crespin M, et al. Among authors: nitschke p. HGG Adv. 2025 Jan 9;6(1):100372. doi: 10.1016/j.xhgg.2024.100372. Epub 2024 Oct 16. HGG Adv. 2025. PMID: 39420558 Free PMC article.
Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.
Dorval G, Le Gac G, Morinière V, Ka C, Goursaud C, Knebelmann B, Marijon P, Nambot S, Cagnard N, Nitschké P, Michel-Calemard L, Audrézet MP, Heidet L. Dorval G, et al. Among authors: nitschke p. Kidney Int. 2024 Sep;106(3):532-535. doi: 10.1016/j.kint.2024.05.029. Epub 2024 Jun 27. Kidney Int. 2024. PMID: 38944240 No abstract available.
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.
Ito Y, Marouf A, Kogure Y, Koya J, Liévin R, Bruneau J, Tabata M, Saito Y, Shingaki S, Yuasa M, Yamaguchi K, Murakami K, Weil R, Vavasseur M, Andrieu GP, Latiri M, Veleanu L, Dussiot M, André I, Joshi A, Lagresle-Peyrou C, Magerus A, Chaubard S, Lavergne D, Bachy E, Brunet E, Fataccioli V, Brouzes C, Laurent C, de Leval L, Traverse-Glehen A, Bossard C, Parrens M, Meignin V, Philippe L, Rossignol J, Suarez F, Michot JM, Tournilhac O, Damaj G, Lemonnier F, Bôle-Feysot C, Nitschké P, Tesson B, Laurent C, Molina T, Asnafi V, Watatani Y, Chiba K, Okada A, Shiraishi Y, Tsukita S, Izutsu K, Miyoshi H, Ohshima K, Sakata S, Dobashi A, Takeuchi K, Sanada M, Gaulard P, Jaccard A, Ogawa S, Hermine O, Kataoka K, Couronné L. Ito Y, et al. Among authors: nitschke p. Cancer Res. 2024 Jul 2;84(13):2181-2201. doi: 10.1158/0008-5472.CAN-24-0132. Cancer Res. 2024. PMID: 38657099
Integrative Molecular Structure Elucidation and Construction of an Extended Metabolic Pathway Associated with an Ancient Innate Immune Response in COVID-19 Patients.
Sala S, Nitschke P, Masuda R, Gray N, Lawler NG, Wood JM, Buckler JN, Berezhnoy G, Bolaños J, Boughton BA, Lonati C, Rössler T, Singh Y, Wilson ID, Lodge S, Morillon AC, Loo RL, Hall D, Whiley L, Evans GB, Grove TL, Almo SC, Harris LD, Holmes E, Merle U, Trautwein C, Nicholson JK, Wist J. Sala S, et al. Among authors: nitschke p. J Proteome Res. 2024 Mar 1;23(3):956-970. doi: 10.1021/acs.jproteome.3c00654. Epub 2024 Feb 4. J Proteome Res. 2024. PMID: 38310443 Free PMC article.
214 results