Somer M - Search Results

1

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.

2

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

3

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

4

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: somer m. 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.

5

[Diagnosis of Duchenne's muscular dystrophy using recombinant DNA technics].

Lindlöf M, Ammälä P, Somer H, Somer M, Simola KO, de la Chapelle A. Lindlöf M, et al. Among authors: somer h, somer m. Duodecim. 1985;101(22):2184-91. Duodecim. 1985. PMID: 3000726 Finnish. No abstract available.

6

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

Somer H, Palotie A, Somer M, Hoikka V, Peltonen L. Somer H, et al. Among authors: somer m. J Med Genet. 1988 Aug;25(8):543-9. doi: 10.1136/jmg.25.8.543. J Med Genet. 1988. PMID: 3172149 Free PMC article.

7

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: somer m. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.

8

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Among authors: somer h, somer m. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978

9

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.

10

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.

Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M. Verkkoniemi A, et al. Among authors: somer m. J Neuropathol Exp Neurol. 2001 May;60(5):483-92. doi: 10.1093/jnen/60.5.483. J Neuropathol Exp Neurol. 2001. PMID: 11379823

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