Somer M - Search Results

1

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H. Linnankivi T, et al. Among authors: somer m. Am J Med Genet A. 2006 Feb 15;140(4):331-9. doi: 10.1002/ajmg.a.31072. Am J Med Genet A. 2006. PMID: 16419126

2

Gene deletions in X-linked muscular dystrophy.

Lindlöf M, Kiuru A, Kääriäinen H, Kalimo H, Lang H, Pihko H, Rapola J, Somer H, Somer M, Savontaus ML, et al. Lindlöf M, et al. Among authors: somer h, somer m. Am J Hum Genet. 1989 Apr;44(4):496-503. Am J Hum Genet. 1989. PMID: 2929594 Free PMC article.

3

Extensive cerebral white matter abnormality without clinical symptoms: a new hereditary condition?

Autti T, Muttilainen M, Raininko R, Heiskala H, Puranen J, Häkkinen AM, Tienari P, Santavuori P, Suominen P, Somer M. Autti T, et al. Among authors: somer m. Ann Neurol. 1999 Jun;45(6):801-5. Ann Neurol. 1999. PMID: 10360775

4

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H. Anttonen AK, et al. Among authors: somer m. Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115735 Free PMC article.

5

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Muona M, Fukata Y, Anttonen AK, Laari A, Palotie A, Pihko H, Lönnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki AE. Muona M, et al. Among authors: somer m. Neurol Genet. 2016 Jan 21;2(1):e46. doi: 10.1212/NXG.0000000000000046. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066583 Free PMC article.

6

PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.

Somer M, Salonen O, Pihko H, Norio R. Somer M, et al. AJNR Am J Neuroradiol. 1993 Jul-Aug;14(4):861-7. AJNR Am J Neuroradiol. 1993. PMID: 8352158 Free PMC article.

7

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. Anttonen AK, et al. Among authors: somer m. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020

8

Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease.

Ikonen E, Salo A, Somer M, Somer H, Pääkkönen L, Peltonen L. Ikonen E, et al. Among authors: somer h, somer m. Am J Med Genet. 1992 Jul 1;43(4):753-8. doi: 10.1002/ajmg.1320430421. Am J Med Genet. 1992. PMID: 1535752

9

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.

Avela K, Aktan-Collan K, Horelli-Kuitunen N, Knuutila S, Somer M. Avela K, et al. Among authors: somer m. Am J Med Genet A. 2011 Apr;155A(4):875-9. doi: 10.1002/ajmg.a.33944. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21595003

10

A syndrome with multiple malformations, mental retardation, and ACTH deficiency.

Kajantie E, Otonkoski T, Kivirikko S, Somer M. Kajantie E, et al. Among authors: somer m. Am J Med Genet A. 2004 Apr 30;126A(3):313-8. doi: 10.1002/ajmg.a.20604. Am J Med Genet A. 2004. PMID: 15054849

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