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223 results

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Page 1
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J. Froyen G, et al. Among authors: jarvela i. Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24. Am J Hum Genet. 2008. PMID: 18252223 Free PMC article.
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S. Froyen G, et al. Among authors: jarvela i. Clin Genet. 2009 Dec;76(6):535-43. doi: 10.1111/j.1399-0004.2009.01248.x. Epub 2009 Oct 23. Clin Genet. 2009. PMID: 19863546
PAK3 related mental disability: further characterization of the phenotype.
Peippo M, Koivisto AM, Särkämö T, Sipponen M, von Koskull H, Ylisaukko-oja T, Rehnström K, Froyen G, Ignatius J, Järvelä I. Peippo M, et al. Among authors: jarvela i. Am J Med Genet A. 2007 Oct 15;143A(20):2406-16. doi: 10.1002/ajmg.a.31956. Am J Med Genet A. 2007. PMID: 17853471 Free article.
Variants in CUL4B are associated with cerebral malformations.
Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: jarvela i. Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718. Hum Mutat. 2015. PMID: 25385192 Free PMC article.
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kääriäinen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Järvelä I. Philips AK, et al. Among authors: jarvela i. Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49. Orphanet J Rare Dis. 2014. PMID: 24721225 Free PMC article.
223 results