Järvelä I - Search Results

1

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: jarvela i. Clin Genet. 2017 Jan;91(1):100-105. doi: 10.1111/cge.12821. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27311568

2

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

Järvelä I, Rapola J, Peltonen L, Puhakka L, Vesa J, Ammälä P, Salonen R, Ryynänen M, Haring P, Mustonen A, et al. Järvelä I, et al. Prenat Diagn. 1991 May;11(5):323-8. doi: 10.1002/pd.1970110508. Prenat Diagn. 1991. PMID: 1680233

3

Prenatal diagnosis of Batten's disease.

Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I. Munroe PB, et al. Among authors: jarvela i. Lancet. 1996 Apr 13;347(9007):1014-5. doi: 10.1016/s0140-6736(96)90148-8. Lancet. 1996. PMID: 8606564

4

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I. Varilo T, et al. Among authors: jarvela i. Am J Hum Genet. 1996 Mar;58(3):506-12. Am J Hum Genet. 1996. PMID: 8644710 Free PMC article.

5

Rapid diagnostic test for the major mutation underlying Batten disease.

Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC. Järvelä I, et al. J Med Genet. 1996 Dec;33(12):1041-2. doi: 10.1136/jmg.33.12.1041. J Med Genet. 1996. PMID: 9004140 Free PMC article.

6

Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.

Järvelä I, Enattah NS, Kokkonen J, Varilo T, Savilahti E, Peltonen L. Järvelä I, et al. Am J Hum Genet. 1998 Oct;63(4):1078-85. doi: 10.1086/302064. Am J Hum Genet. 1998. PMID: 9758622 Free PMC article.

7

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M, Riikonen R, Peltonen L, Järvelä I. Auranen M, et al. Among authors: jarvela i. Neurology. 2001 Mar 13;56(5):611-7. doi: 10.1212/wnl.56.5.611. Neurology. 2001. PMID: 11245712

8

A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.

Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T, Sinsheimer JS, Peltonen L, Järvelä I. Auranen M, et al. Among authors: jarvela i. Am J Hum Genet. 2002 Oct;71(4):777-90. doi: 10.1086/342720. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192642 Free PMC article.

9

The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study.

Forsman E, Lemmelä S, Varilo T, Kristo P, Forsius H, Sankila EM, Järvelä I. Forsman E, et al. Among authors: jarvela i. Mol Vis. 2003 May 30;9:217-22. Mol Vis. 2003. PMID: 12789137 Free article.

10

Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland.

Auranen M, Varilo T, Alen R, Vanhala R, Ayers K, Kempas E, Ylisaukko-Oja T, Peltonen L, Järvelä I. Auranen M, et al. Among authors: jarvela i. Mol Psychiatry. 2003 Oct;8(10):879-84. doi: 10.1038/sj.mp.4001299. Mol Psychiatry. 2003. PMID: 14515138

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

223 results

Search Page