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[Management of genetic renal disorders: local experience and importance of the network].
Bonny O, Ketterer A, Hermida S, Superti-Furga A, Venetz JP, Chehade H, Fodstad H, Cina V, Parvex P, Paoloni-Giacobino A, De Seigneux S, Fakhouri F. Bonny O, et al. Among authors: fodstad h. Rev Med Suisse. 2023 Jun 21;19(832):1245-1249. doi: 10.53738/REVMED.2023.19.832.1245. Rev Med Suisse. 2023. PMID: 37341318 French.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: fodstad h. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L. Pollazzon M, et al. Among authors: fodstad h. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. Genes (Basel). 2021. PMID: 35052370 Free PMC article.
Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy.
Guzzo G, Sadallah S, Fodstad H, Venetz JP, Rotman S, Teta D, Gauthier T, Pantaleo G, Superti-Furga A, Pascual M. Guzzo G, et al. Among authors: fodstad h. Front Genet. 2021 May 20;12:529236. doi: 10.3389/fgene.2021.529236. eCollection 2021. Front Genet. 2021. PMID: 34220921 Free PMC article.
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: fodstad h. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Combined Lung and Liver Transplantation for Short Telomere Syndrome.
Moschouri E, Vionnet J, Giostra E, Daccord C, Lazor R, Sciarra A, Letovanec I, Sempoux C, Gonzalez M, Unger S, Fodstad H, Haubitz M, Baerlocher GM, Voruz S, Naveiras O, Jacquemin E, Moradpour D, Fraga M. Moschouri E, et al. Among authors: fodstad h. Liver Transpl. 2020 Jun;26(6):840-844. doi: 10.1002/lt.25734. Epub 2020 May 2. Liver Transpl. 2020. PMID: 32080954 No abstract available.
112 results