Mustonen A - Search Results

1

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Dai J, et al. Among authors: mustonen a. J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577006

2

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Encarnação M, et al. Among authors: mustonen a. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

3

MECP2 mutation analysis in patients with mental retardation.

Ylisaukko-Oja T, Rehnström K, Vanhala R, Kempas E, von Koskull H, Tengström C, Mustonen A, Ounap K, Lähdetie J, Järvelä I. Ylisaukko-Oja T, et al. Among authors: mustonen a. Am J Med Genet A. 2005 Jan 15;132A(2):121-4. doi: 10.1002/ajmg.a.30416. Am J Med Genet A. 2005. PMID: 15578581

4

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Philips AK, Pinelli M, de Bie CI, Mustonen A, Määttä T, Arts HH, Wu K, Roepman R, Moilanen JS, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen KL, Järvelä I. Philips AK, et al. Among authors: mustonen a. Clin Genet. 2017 Jan;91(1):100-105. doi: 10.1111/cge.12821. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27311568

5

ERCC6 founder mutation identified in Finnish patients with COFS syndrome.

Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NG, Shao H, Wu BL, Ignatius J. Jaakkola E, et al. Among authors: mustonen a. Clin Genet. 2010 Dec;78(6):541-7. doi: 10.1111/j.1399-0004.2010.01424.x. Clin Genet. 2010. PMID: 20456449

6

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.

Siggberg L, Mustonen A, Schuit R, Salomons GS, Roos B, Gibson KM, Jakobs C, Ignatius J, Knuutila S. Siggberg L, et al. Among authors: mustonen a. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):448-53. doi: 10.1002/ajmg.b.31180. Epub 2011 Mar 22. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21438145 Free PMC article.

7

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation.

Rahikkala E, Forsström LM, Kokkonen H, Knuutila S, Mustonen A, Ignatius J. Rahikkala E, et al. Among authors: mustonen a. Eur J Med Genet. 2013 Jul;56(7):389-96. doi: 10.1016/j.ejmg.2013.05.004. Epub 2013 May 22. Eur J Med Genet. 2013. PMID: 23707653

8

A recurrent mutation in PALB2 in Finnish cancer families.

Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. Erkko H, et al. Among authors: mustonen a. Nature. 2007 Mar 15;446(7133):316-9. doi: 10.1038/nature05609. Epub 2007 Feb 7. Nature. 2007. PMID: 17287723

9

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.

Pylkäs K, Tommiska J, Syrjäkoski K, Kere J, Gatei M, Waddell N, Allinen M, Karppinen SM, Rapakko K, Kääriäinen H, Aittomäki K, Blomqvist C, Mustonen A, Holli K, Khanna KK, Kallioniemi OP, Nevanlinna H, Winqvist R. Pylkäs K, et al. Among authors: mustonen a. Carcinogenesis. 2007 May;28(5):1040-5. doi: 10.1093/carcin/bgl237. Epub 2006 Dec 13. Carcinogenesis. 2007. PMID: 17166884

10

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network; Nguyen HP. Metzger S, et al. PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013. PLoS One. 2013. PMID: 23894380 Free PMC article.

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