Väisänen ML - Search Results

1

Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.

Löppönen T, Dietz A, Väisänen ML, Valtonen H, Kosunen A, Hyvärinen A, Ignatius J, Löppönen H. Löppönen T, et al. Among authors: vaisanen ml. Acta Otolaryngol. 2012 Aug;132(8):862-73. doi: 10.3109/00016489.2012.669498. Epub 2012 Jun 5. Acta Otolaryngol. 2012. PMID: 22668073

2

Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.

Löppönen T, Väisänen ML, Luotonen M, Allinen M, Uusimaa J, Lindholm P, Mäki-Torkko E, Väyrynen M, Löppönen H, Leisti J. Löppönen T, et al. Among authors: vaisanen ml. Laryngoscope. 2003 Oct;113(10):1758-63. doi: 10.1097/00005537-200310000-00018. Laryngoscope. 2003. PMID: 14520102

3

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Bharadwaj T, Schrauwen I, Acharya A, Nouel-Saied LM, Väisänen ML, Kraatari M, Rahikkala E, Jarvela I, Kotimäki J, Leal SM. Bharadwaj T, et al. Among authors: vaisanen ml. Mol Genet Genomic Med. 2022 Mar;10(3):e1866. doi: 10.1002/mgg3.1866. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150090 Free PMC article.

4

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J. Rahikkala E, et al. Among authors: vaisanen ml. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940925 Free PMC article.

5

The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes.

Haataja R, Väisänen ML, Li M, Ryynänen M, Leisti J. Haataja R, et al. Among authors: vaisanen ml. Hum Genet. 1994 Nov;94(5):479-83. doi: 10.1007/BF00211011. Hum Genet. 1994. PMID: 7959680

6

Carrier detection of the fragile X syndrome with flanking RFLP markers and linkage analysis.

Väisänen ML, Kähkönen M, Leisti J. Väisänen ML, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):307-11. doi: 10.1002/ajmg.1320430147. Am J Med Genet. 1992. PMID: 1351364

7

Diagnosis of fragile X syndrome by direct mutation analysis.

Väisänen ML, Kähkönen M, Leisti J. Väisänen ML, et al. Hum Genet. 1994 Feb;93(2):143-7. doi: 10.1007/BF00210599. Hum Genet. 1994. PMID: 8112737

8

Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.

Väisänen ML, Haataja R, Leisti J. Väisänen ML, et al. Am J Hum Genet. 1996 Sep;59(3):540-6. Am J Hum Genet. 1996. PMID: 8751854 Free PMC article.

9

A new RFLP with StuI and probe cX55.7 (DXS105) and its usefulness in carrier analysis of fragile X syndrome.

Rekilä AM, Väisänen ML, Kähkönen M, Leisti J, Winqvist R. Rekilä AM, et al. Among authors: vaisanen ml. Hum Genet. 1988 Oct;80(2):193. doi: 10.1007/BF00702869. Hum Genet. 1988. PMID: 2902001

10

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. Coughlin CR 2nd, et al. Among authors: vaisanen ml. Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362913 Free article.

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