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Diagnostic criteria and genetics of the PEHO syndrome.
Somer M. Somer M. J Med Genet. 1993 Nov;30(11):932-6. doi: 10.1136/jmg.30.11.932. J Med Genet. 1993. PMID: 8301648 Free PMC article.
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.
Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Robinson PN, et al. Among authors: somer m. Am J Med Genet A. 2005 Jun 15;135(3):251-62. doi: 10.1002/ajmg.a.30431. Am J Med Genet A. 2005. PMID: 15884042
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
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
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 m, somer h. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978
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.
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
Painter JN, Tapanainen H, Somer M, Tukiainen P, Aittomäki K. Painter JN, et al. Among authors: somer m. Am J Hum Genet. 2005 Mar;76(3):522-7. doi: 10.1086/428455. Epub 2005 Jan 18. Am J Hum Genet. 2005. PMID: 15657874 Free PMC article.
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
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S. Ion A, et al. Among authors: somer m. Hum Genet. 2002 Oct;111(4-5):421-7. doi: 10.1007/s00439-002-0803-6. Epub 2002 Aug 24. Hum Genet. 2002. PMID: 12384786 Review.
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P. Lammi L, et al. Among authors: somer m. Am J Hum Genet. 2004 May;74(5):1043-50. doi: 10.1086/386293. Epub 2004 Mar 23. Am J Hum Genet. 2004. PMID: 15042511 Free PMC article.
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