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9q22 Deletion--first familial case.
Siggberg L, Peippo M, Sipponen M, Miikkulainen T, Shimojima K, Yamamoto T, Ignatius J, Knuutila S. Siggberg L, et al. Among authors: peippo m. Orphanet J Rare Dis. 2011 Jun 22;6:45. doi: 10.1186/1750-1172-6-45. Orphanet J Rare Dis. 2011. PMID: 21693067 Free PMC article.
Pitt-Hopkins Syndrome.
Peippo M, Ignatius J. Peippo M, et al. Mol Syndromol. 2012 Apr;2(3-5):171-180. doi: 10.1159/000335287. Epub 2011 Dec 29. Mol Syndromol. 2012. PMID: 22670138 Free PMC article.
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. 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.
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: peippo m. 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.
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: peippo m. 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.
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.
Orth M; European Huntington's Disease Network; Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB. Orth M, et al. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1409-12. doi: 10.1136/jnnp.2010.209668. Epub 2010 Nov 19. J Neurol Neurosurg Psychiatry. 2011. PMID: 21097549 No abstract available.
43 results