Väisänen ML - Search Results

1

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

2

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

3

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

4

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

5

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.

6

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Suthers GK, Mulley JC, Voelckel MA, Dahl N, Väisänen ML, Steinbach P, Glass IA, Schwartz CE, van Oost BA, Thibodeau SN, et al. Suthers GK, et al. Among authors: vaisanen ml. Am J Hum Genet. 1991 Mar;48(3):460-7. Am J Hum Genet. 1991. PMID: 1671806 Free PMC article.

7

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

8

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Among authors: vaisanen ml. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.

9

Linkage homogeneity near the fragile X locus in normal and fragile X families.

Suthers GK, Mulley JC, Voelckel MA, Dahl N, Väisänen ML, Steinbach P, Glass IA, Schwartz CE, van Oost BA, Thibodeau SN, et al. Suthers GK, et al. Among authors: vaisanen ml. Genomics. 1991 Jul;10(3):576-82. doi: 10.1016/0888-7543(91)90438-k. Genomics. 1991. PMID: 1889808

10

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.

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