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671 results

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Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays.
Oitmaa E, Peters M, Vaidla K, Andreson R, Mägi R, Slavin G, Velthut A, Tõnisson N, Reimand T, Remm M, Schneider M, Ounap K, Salumets A, Metspalu A. Oitmaa E, et al. Among authors: metspalu a. Prenat Diagn. 2010 Dec;30(12-13):1170-7. doi: 10.1002/pd.2639. Prenat Diagn. 2010. PMID: 20949644
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. Zufferey F, et al. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. J Med Genet. 2012. PMID: 23054248 Free PMC article.
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Kučinskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, Zimprich F, Antonarakis SE, Estivill X, Glavač D, Gut I, Klovins J, Krawczak M, Kučinskas V, Lathrop M, Macek M, Marsal S, Meitinger T, Melegh B, Limborska S, Lubinski J, Paolotie A, Schreiber S, Toncheva D, Toniolo D, Wichmann HE, Zimprich A, Metspalu M, Gasparini P, Metspalu A, D'Adamo P. Esko T, et al. Among authors: metspalu a, metspalu m. Eur J Hum Genet. 2013 Jun;21(6):659-65. doi: 10.1038/ejhg.2012.229. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249956 Free PMC article.
A missense mutation in DUSP6 is associated with Class III malocclusion.
Nikopensius T, Saag M, Jagomägi T, Annilo T, Kals M, Kivistik PA, Milani L, Metspalu A. Nikopensius T, et al. Among authors: metspalu a. J Dent Res. 2013 Oct;92(10):893-8. doi: 10.1177/0022034513502790. Epub 2013 Aug 21. J Dent Res. 2013. PMID: 23965468
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. Among authors: metspalu a. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161
BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres.
van Ommen GJ, Törnwall O, Bréchot C, Dagher G, Galli J, Hveem K, Landegren U, Luchinat C, Metspalu A, Nilsson C, Solesvik OV, Perola M, Litton JE, Zatloukal K. van Ommen GJ, et al. Among authors: metspalu a. Eur J Hum Genet. 2015 Jul;23(7):893-900. doi: 10.1038/ejhg.2014.235. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407005 Free PMC article.
671 results