Ala-Mello S - Search Results

1

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.

Stoll G, Pietiläinen OPH, Linder B, Suvisaari J, Brosi C, Hennah W, Leppä V, Torniainen M, Ripatti S, Ala-Mello S, Plöttner O, Rehnström K, Tuulio-Henriksson A, Varilo T, Tallila J, Kristiansson K, Isohanni M, Kaprio J, Eriksson JG, Raitakari OT, Lehtimäki T, Jarvelin MR, Salomaa V, Hurles M, Stefansson H, Peltonen L, Sullivan PF, Paunio T, Lönnqvist J, Daly MJ, Fischer U, Freimer NB, Palotie A. Stoll G, et al. Among authors: ala mello s. Nat Neurosci. 2013 Sep;16(9):1228-1237. doi: 10.1038/nn.3484. Epub 2013 Aug 4. Nat Neurosci. 2013. PMID: 23912948 Free PMC article.

2

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J. Vuorela P, et al. Genet Med. 2007 Oct;9(10):690-4. doi: 10.1097/gim.0b013e318156e68e. Genet Med. 2007. PMID: 18073582 Free article.

3

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Knuutila S. Siggberg L, et al. Among authors: ala mello s. BMC Med Genet. 2014 Nov 18;15:124. doi: 10.1186/s12881-014-0124-3. BMC Med Genet. 2014. PMID: 25928284 Free PMC article. No abstract available.

4

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

Koivisto AM, Ala-Mello S, Lemmelä S, Komu HA, Rautio J, Järvelä I. Koivisto AM, et al. Clin Genet. 2007 Aug;72(2):145-9. doi: 10.1111/j.1399-0004.2007.00836.x. Clin Genet. 2007. PMID: 17661819

5

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.

Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kääriäinen H. Ala-Mello S, et al. J Med Genet. 1998 Apr;35(4):279-83. doi: 10.1136/jmg.35.4.279. J Med Genet. 1998. PMID: 9598719 Free PMC article.

6

The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years.

Ala-Mello S, Peippo M. Ala-Mello S, et al. Am J Med Genet A. 2004 Oct 15;130A(3):317-9. doi: 10.1002/ajmg.a.30303. Am J Med Genet A. 2004. PMID: 15378536

7

Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients.

Siggberg L, Ala-Mello S, Jaakkola E, Kuusinen E, Schuit R, Kohlhase J, Böhm D, Ignatius J, Knuutila S. Siggberg L, et al. Among authors: ala mello s. Am J Med Genet A. 2010 Jun;152A(6):1398-410. doi: 10.1002/ajmg.a.33402. Am J Med Genet A. 2010. PMID: 20503314

8

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Khuutila S. Siggberg L, et al. Among authors: ala mello s. BMC Med Genet. 2012 Sep 17;13:84. doi: 10.1186/1471-2350-13-84. BMC Med Genet. 2012. PMID: 22984989 Free PMC article.

9

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. 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

10

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.

Raivio VE, Jonasson J, Myllykangas L, Ala-Mello S, Kankuri-Tammilehto M, Kiuru-Enari S, Westermark P, Tanskanen M, Kivelä T. Raivio VE, et al. Among authors: ala mello s. Amyloid. 2016;23(1):46-50. doi: 10.3109/13506129.2015.1126574. Epub 2016 Feb 1. Amyloid. 2016. PMID: 26828956

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