Sankila EM - Search Results

1

Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma.

Puska P, Lemmelä S, Kristo P, Sankila EM, Järvelä I. Puska P, et al. Among authors: sankila em. Ophthalmic Genet. 2005 Mar;26(1):17-23. doi: 10.1080/13816810590918208. Ophthalmic Genet. 2005. PMID: 15823921

2

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: sankila em. Mol Vis. 2003 May 30;9:217-22. Mol Vis. 2003. PMID: 12789137 Free article.

3

Aberrant splicing of the CHM gene is a significant cause of choroideremia.

Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP, de la Chapelle A. Sankila EM, et al. Nat Genet. 1992 May;1(2):109-13. doi: 10.1038/ng0592-109. Nat Genet. 1992. PMID: 1302003

4

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.

Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kääriäinen H. Ala-Mello S, et al. Among authors: sankila em. J Med Genet. 1998 Apr;35(4):279-83. doi: 10.1136/jmg.35.4.279. J Med Genet. 1998. PMID: 9598719 Free PMC article.

5

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.

Sankila EM, Joensuu TH, Hämäläinen RH, Raitanen N, Valle O, Ignatius J, Cormand B. Sankila EM, et al. Hum Mutat. 2000 Jul;16(1):94. doi: 10.1002/1098-1004(200007)16:1<94::AID-HUMU25>3.0.CO;2-T. Hum Mutat. 2000. PMID: 10874321 No abstract available.

6

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E. Puomila A, et al. Among authors: sankila em. Acta Ophthalmol Scand. 2005 Jun;83(3):337-46. doi: 10.1111/j.1600-0420.2005.00448.x. Acta Ophthalmol Scand. 2005. PMID: 15948788 Free article.

7

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Among authors: sankila em. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27. Am J Hum Genet. 2001. PMID: 11524702 Free PMC article.

8

Haplotype and multipoint linkage analysis in Finnish choroideremia families.

Sankila EM, Lehner T, Eriksson AW, Forsius H, Kärnä J, Page D, Ott J, de la Chapelle A. Sankila EM, et al. Hum Genet. 1989 Dec;84(1):66-70. doi: 10.1007/BF00210674. Hum Genet. 1989. PMID: 2575071

9

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

Avela K, Sankila EM, Seitsonen S, Kuuluvainen L, Barton S, Gillies S, Aittomäki K. Avela K, et al. Among authors: sankila em. Acta Ophthalmol. 2018 Mar;96(2):183-191. doi: 10.1111/aos.13551. Epub 2017 Oct 25. Acta Ophthalmol. 2018. PMID: 29068140 Free article.

10

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

Lehesjoki AE, Sankila EM, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A. Lehesjoki AE, et al. Among authors: sankila em. J Med Genet. 1990 May;27(5):288-91. doi: 10.1136/jmg.27.5.288. J Med Genet. 1990. PMID: 1972196 Free PMC article.

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