Lähdetie J - Search Results

1

Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.

Ylisaukko-oja T, Rehnström K, Vanhala R, Tengström C, Lähdetie J, Järvelä I. Ylisaukko-oja T, et al. Among authors: lahdetie j. Hum Genet. 2004 Jan;114(2):211-3. doi: 10.1007/s00439-003-1048-8. Epub 2003 Nov 4. Hum Genet. 2004. PMID: 14598163

2

MECP2 mutation analysis in patients with mental retardation.

Ylisaukko-Oja T, Rehnström K, Vanhala R, Kempas E, von Koskull H, Tengström C, Mustonen A, Ounap K, Lähdetie J, Järvelä I. Ylisaukko-Oja T, et al. Among authors: lahdetie j. Am J Med Genet A. 2005 Jan 15;132A(2):121-4. doi: 10.1002/ajmg.a.30416. Am J Med Genet A. 2005. PMID: 15578581

3

Epilepsy caused by CDKL5 mutations.

Castrén M, Gaily E, Tengström C, Lähdetie J, Archer H, Ala-Mello S. Castrén M, et al. Among authors: lahdetie j. Eur J Paediatr Neurol. 2011 Jan;15(1):65-9. doi: 10.1016/j.ejpn.2010.04.005. Epub 2010 May 20. Eur J Paediatr Neurol. 2011. PMID: 20493745

4

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).

Rapola J, Lähdetie J, Isosomppi J, Helminen P, Penttinen M, Järvelä I. Rapola J, et al. Among authors: lahdetie j. Prenat Diagn. 1999 Jul;19(7):685-8. doi: 10.1002/(sici)1097-0223(199907)19:7<685::aid-pd603>3.0.co;2-f. Prenat Diagn. 1999. PMID: 10419622

5

Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.

Mäkelä S, Eklund R, Lähdetie J, Mikkola M, Hovatta O, Kere J. Mäkelä S, et al. Among authors: lahdetie j. Mol Hum Reprod. 2005 Feb;11(2):129-32. doi: 10.1093/molehr/gah140. Epub 2004 Dec 3. Mol Hum Reprod. 2005. PMID: 15579655

6

Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.

Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR. Pratt VM, et al. Among authors: lahdetie j. Am J Hum Genet. 1993 Jun;52(6):1053-6. Am J Hum Genet. 1993. PMID: 7684886 Free PMC article.

7

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.

Arvio M, Lähdetie J. Arvio M, et al. Among authors: lahdetie j. Am J Med Genet A. 2021 Jul;185(7):2164-2167. doi: 10.1002/ajmg.a.62213. Epub 2021 May 4. Am J Med Genet A. 2021. PMID: 33942960 Free article.

8

Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.

Arvio M, Lähdetie J. Arvio M, et al. Among authors: lahdetie j. Am J Med Genet A. 2020 Nov;182(11):2671-2674. doi: 10.1002/ajmg.a.61802. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 33200910

9

Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB).

Arvio M, Määttänen L, Haanpää M, Lähdetie J. Arvio M, et al. Among authors: lahdetie j. Am J Med Genet A. 2019 Dec;179(12):2481-2485. doi: 10.1002/ajmg.a.61369. Epub 2019 Oct 3. Am J Med Genet A. 2019. PMID: 31580529 Free article.

10

A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men.

Lund A, Juvonen V, Lähdetie J, Aittomäki K, Tapanainen JS, Savontaus ML. Lund A, et al. Among authors: lahdetie j. Fertil Steril. 2003 Jun;79 Suppl 3:1647-8. doi: 10.1016/s0015-0282(03)00256-5. Fertil Steril. 2003. PMID: 12801573 Free article.

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

76 results

Search Page