Väisänen ML - Search Results

1

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.

2

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.

3

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.

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

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

6

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

7

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

8

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

Coughlin CR, 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 JLK. Coughlin CR, et al. Among authors: vaisanen ml. Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232. Genet Med. 2018. PMID: 29300369 Free article.

9

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

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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