Valanne L - Search Results

1

Hajdu-Cheney syndrome with severe dural ectasia.

Avela K, Valanne L, Helenius I, Mäkitie O. Avela K, et al. Among authors: valanne l. Am J Med Genet A. 2011 Mar;155A(3):595-8. doi: 10.1002/ajmg.a.33510. Epub 2011 Feb 18. Am J Med Genet A. 2011. PMID: 21337686

2

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.

Toiviainen-Salo S, Mäkitie O, Mannerkoski M, Hämäläinen J, Valanne L, Autti T. Toiviainen-Salo S, et al. Among authors: valanne l. Am J Med Genet A. 2008 Jun 15;146A(12):1558-64. doi: 10.1002/ajmg.a.32354. Am J Med Genet A. 2008. PMID: 18478597

3

Frontotemporal pachygyria-two new patients.

Avela K, Toiviainen-Salo S, Karttunen-Lewandowski P, Kauria L, Valanne L, Salonen-Kajander R. Avela K, et al. Among authors: valanne l. Eur J Med Genet. 2012 Dec;55(12):753-7. doi: 10.1016/j.ejmg.2012.09.007. Epub 2012 Sep 27. Eur J Med Genet. 2012. PMID: 23022981

4

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S. Linnankivi T, et al. Among authors: valanne l. Am J Med Genet A. 2012 Dec;158A(12):3119-25. doi: 10.1002/ajmg.a.35642. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165795

5

Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.

Peippo M, Valanne L, Perhomaa M, Toivanen L, Ignatius J. Peippo M, et al. Among authors: valanne l. Am J Med Genet A. 2009 Nov;149A(11):2593-601. doi: 10.1002/ajmg.a.33019. Am J Med Genet A. 2009. PMID: 19839038 Review.

6

Cerebroretinal microangiopathy with calcifications and cysts.

Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T, Lönnqvist T, Mäkitie O, Pääkkönen L, Vainionpää L, Vanninen R, Herva R, Pihko H. Linnankivi T, et al. Among authors: valanne l. Neurology. 2006 Oct 24;67(8):1437-43. doi: 10.1212/01.wnl.0000236999.63933.b0. Epub 2006 Aug 30. Neurology. 2006. PMID: 16943371

7

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H. Linnankivi T, et al. Among authors: valanne l. Am J Med Genet A. 2006 Feb 15;140(4):331-9. doi: 10.1002/ajmg.a.31072. Am J Med Genet A. 2006. PMID: 16419126

8

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.

Peippo MM, Simola KO, Valanne LK, Larsen AT, Kähkönen M, Auranen MP, Ignatius J. Peippo MM, et al. Clin Dysmorphol. 2006 Apr;15(2):47-54. doi: 10.1097/01.mcd.0000184973.14775.32. Clin Dysmorphol. 2006. PMID: 16531728

9

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A. Isohanni P, et al. Among authors: valanne l. J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592391

10

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.

Laitinen EM, Vaaralahti K, Tommiska J, Eklund E, Tervaniemi M, Valanne L, Raivio T. Laitinen EM, et al. Among authors: valanne l. Orphanet J Rare Dis. 2011 Jun 17;6:41. doi: 10.1186/1750-1172-6-41. Orphanet J Rare Dis. 2011. PMID: 21682876 Free PMC article.

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