Fodstad H - Search Results

1

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.

2

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

Royer-Bertrand B, Cisarova K, Niel-Butschi F, Mittaz-Crettol L, Fodstad H, Superti-Furga A. Royer-Bertrand B, et al. Among authors: fodstad h. Genes (Basel). 2021 Sep 16;12(9):1427. doi: 10.3390/genes12091427. Genes (Basel). 2021. PMID: 34573409 Free PMC article.

3

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Bastos F, Quinodoz M, Addor MC, Royer-Bertrand B, Fodstad H, Rivolta C, Poloni C, Superti-Furga A, Roulet-Perez E, Lebon S. Bastos F, et al. Among authors: fodstad h. BMC Neurol. 2020 Jan 13;20(1):17. doi: 10.1186/s12883-019-1586-x. BMC Neurol. 2020. PMID: 31931739 Free PMC article. Review.

4

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.

5

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.

El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T. El Mouatani A, et al. Among authors: fodstad h. Am J Med Genet A. 2021 Dec;185(12):3831-3837. doi: 10.1002/ajmg.a.62426. Epub 2021 Jul 23. Am J Med Genet A. 2021. PMID: 34296525

6

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.

7

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Fodstad H, Swan H, Laitinen P, Piippo K, Paavonen K, Viitasalo M, Toivonen L, Kontula K. Fodstad H, et al. Ann Med. 2004;36 Suppl 1:53-63. doi: 10.1080/17431380410032689. Ann Med. 2004. PMID: 15176425 Free article.

8

Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.

Fodstad H, Bendahhou S, Rougier JS, Laitinen-Forsblom PJ, Barhanin J, Abriel H, Schild L, Kontula K, Swan H. Fodstad H, et al. Ann Med. 2006;38(4):294-304. doi: 10.1080/07853890600756065. Ann Med. 2006. PMID: 16754261 Free article.

9

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

Laitinen P, Fodstad H, Piippo K, Swan H, Toivonen L, Viitasalo M, Kaprio J, Kontula K. Laitinen P, et al. Among authors: fodstad h. Hum Mutat. 2000 Jun;15(6):580-1. doi: 10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.0.CO;2-0. Hum Mutat. 2000. PMID: 10862094

10

Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.

Lunetta P, Levo A, Laitinen PJ, Fodstad H, Kontula K, Sajantila A. Lunetta P, et al. Among authors: fodstad h. Int J Legal Med. 2003 Apr;117(2):115-7. doi: 10.1007/s00414-002-0331-x. Epub 2003 Feb 28. Int J Legal Med. 2003. PMID: 12690509

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