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928 results
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LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. Gong Y, et al. Among authors: peltonen l. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2. Cell. 2001. PMID: 11719191
Association of DISC1 with autism and Asperger syndrome.
Kilpinen H, Ylisaukko-Oja T, Hennah W, Palo OM, Varilo T, Vanhala R, Nieminen-von Wendt T, von Wendt L, Paunio T, Peltonen L. Kilpinen H, et al. Among authors: peltonen l. Mol Psychiatry. 2008 Feb;13(2):187-96. doi: 10.1038/sj.mp.4002031. Epub 2007 Jun 19. Mol Psychiatry. 2008. PMID: 17579608
Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
Haataja R, Karjalainen MK, Luukkonen A, Teramo K, Puttonen H, Ojaniemi M, Varilo T, Chaudhari BP, Plunkett J, Murray JC, McCarroll SA, Peltonen L, Muglia LJ, Palotie A, Hallman M. Haataja R, et al. Among authors: peltonen l. PLoS Genet. 2011 Feb 3;7(2):e1001293. doi: 10.1371/journal.pgen.1001293. PLoS Genet. 2011. PMID: 21304894 Free PMC article.
Phenotype mining in CNV carriers from a population cohort.
Pietiläinen OP, Rehnström K, Jakkula E, Service SK, Congdon E, Tilgmann C, Hartikainen AL, Taanila A, Heikura U, Paunio T, Ripatti S, Jarvelin MR, Isohanni M, Sabatti C, Palotie A, Freimer NB, Peltonen L. Pietiläinen OP, et al. Among authors: peltonen l. Hum Mol Genet. 2011 Jul 1;20(13):2686-95. doi: 10.1093/hmg/ddr162. Epub 2011 Apr 19. Hum Mol Genet. 2011. PMID: 21505072 Free PMC article.
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L. Mee L, et al. Among authors: peltonen l. Hum Mol Genet. 2005 Jun 1;14(11):1475-88. doi: 10.1093/hmg/ddi157. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843405
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