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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.
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Zweier M, Peippo MM, Pöyhönen M, Kääriäinen H, Begemann A, Joset P, Oneda B, Rauch A. Zweier M, et al. Among authors: peippo mm. Am J Med Genet A. 2017 May;173(5):1440-1443. doi: 10.1002/ajmg.a.38143. Epub 2017 Mar 21. Am J Med Genet A. 2017. PMID: 28323383 Free PMC article. No abstract available.
A new genetic locus for X linked progressive cone-rod dystrophy.
Jalkanen R, Demirci FY, Tyynismaa H, Bech-Hansen T, Meindl A, Peippo M, Mäntyjärvi M, Gorin MB, Alitalo T. Jalkanen R, et al. Among authors: peippo m. J Med Genet. 2003 Jun;40(6):418-23. doi: 10.1136/jmg.40.6.418. J Med Genet. 2003. PMID: 12807962 Free PMC article.
43 results