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Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.
Mitchell J, Paul P, Chen HJ, Morris A, Payling M, Falchi M, Habgood J, Panoutsou S, Winkler S, Tisato V, Hajitou A, Smith B, Vance C, Shaw C, Mazarakis ND, de Belleroche J. Mitchell J, et al. Among authors: falchi m. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7556-61. doi: 10.1073/pnas.0914128107. Epub 2010 Apr 5. Proc Natl Acad Sci U S A. 2010. PMID: 20368421 Free PMC article.
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice.
Carrat GR, Hu M, Nguyen-Tu MS, Chabosseau P, Gaulton KJ, van de Bunt M, Siddiq A, Falchi M, Thurner M, Canouil M, Pattou F, Leclerc I, Pullen TJ, Cane MC, Prabhala P, Greenwald W, Schulte A, Marchetti P, Ibberson M, MacDonald PE, Manning Fox JE, Gloyn AL, Froguel P, Solimena M, McCarthy MI, Rutter GA. Carrat GR, et al. Among authors: falchi m. Am J Hum Genet. 2017 Feb 2;100(2):238-256. doi: 10.1016/j.ajhg.2017.01.011. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132686 Free PMC article.
Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue.
Walley AJ, Jacobson P, Falchi M, Bottolo L, Andersson JC, Petretto E, Bonnefond A, Vaillant E, Lecoeur C, Vatin V, Jernas M, Balding D, Petteni M, Park YS, Aitman T, Richardson S, Sjostrom L, Carlsson LM, Froguel P. Walley AJ, et al. Among authors: falchi m. Int J Obes (Lond). 2012 Jan;36(1):137-47. doi: 10.1038/ijo.2011.22. Epub 2011 Mar 22. Int J Obes (Lond). 2012. PMID: 21427694 Free PMC article.
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. Walters RG, et al. Among authors: falchi m. Nature. 2010 Feb 4;463(7281):671-5. doi: 10.1038/nature08727. Nature. 2010. PMID: 20130649 Free PMC article.
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.
Lu Y, Day FR, Gustafsson S, Buchkovich ML, Na J, Bataille V, Cousminer DL, Dastani Z, Drong AW, Esko T, Evans DM, Falchi M, Feitosa MF, Ferreira T, Hedman ÅK, Haring R, Hysi PG, Iles MM, Justice AE, Kanoni S, Lagou V, Li R, Li X, Locke A, Lu C, Mägi R, Perry JR, Pers TH, Qi Q, Sanna M, Schmidt EM, Scott WR, Shungin D, Teumer A, Vinkhuyzen AA, Walker RW, Westra HJ, Zhang M, Zhang W, Zhao JH, Zhu Z, Afzal U, Ahluwalia TS, Bakker SJ, Bellis C, Bonnefond A, Borodulin K, Buchman AS, Cederholm T, Choh AC, Choi HJ, Curran JE, de Groot LC, De Jager PL, Dhonukshe-Rutten RA, Enneman AW, Eury E, Evans DS, Forsen T, Friedrich N, Fumeron F, Garcia ME, Gärtner S, Han BG, Havulinna AS, Hayward C, Hernandez D, Hillege H, Ittermann T, Kent JW, Kolcic I, Laatikainen T, Lahti J, Mateo Leach I, Lee CG, Lee JY, Liu T, Liu Y, Lobbens S, Loh M, Lyytikäinen LP, Medina-Gomez C, Michaëlsson K, Nalls MA, Nielson CM, Oozageer L, Pascoe L, Paternoster L, Polašek O, Ripatti S, Sarzynski MA, Shin CS, Narančić NS, Spira D, Srikanth P, Steinhagen-Thiessen E, Sung YJ, Swart KM, Taittonen L, Tanaka T, Tikkanen E, van der Velde N, van Schoor NM, Verweij N, Wright AF, Yu L, Zmuda JM, Eklund N, Forrester T, Gra… See abstract for full author list ➔ Lu Y, et al. Among authors: falchi m. Nat Commun. 2016 Feb 1;7:10495. doi: 10.1038/ncomms10495. Nat Commun. 2016. PMID: 26833246 Free PMC article.
Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk.
Marquez M, Huyvaert M, Perry JR, Pearson RD, Falchi M, Morris AP, Vivequin S, Lobbens S, Yengo L, Gaget S, Pattou F, Poulain-Godefroy O, Charpentier G, Carlsson LM, Jacobson P, Sjöström L, Lantieri O, Heude B, Walley A, Balkau B, Marre M, Froguel P, Cauchi S; DIAGRAM Consortium. Marquez M, et al. Among authors: falchi m. Diabetes. 2012 Feb;61(2):524-30. doi: 10.2337/db11-0728. Epub 2011 Dec 30. Diabetes. 2012. PMID: 22210315 Free PMC article.
Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.
El-Sayed Moustafa JS, Eleftherohorinou H, de Smith AJ, Andersson-Assarsson JC, Alves AC, Hadjigeorgiou E, Walters RG, Asher JE, Bottolo L, Buxton JL, Sladek R, Meyre D, Dina C, Visvikis-Siest S, Jacobson P, Sjöström L, Carlsson LM, Walley A, Falchi M, Froguel P, Blakemore AI, Coin LJ. El-Sayed Moustafa JS, et al. Among authors: falchi m. Hum Mol Genet. 2012 Aug 15;21(16):3727-38. doi: 10.1093/hmg/dds187. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595969 Free PMC article.
A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two genetically differentiated isolates of Sardinia.
Falchi M, Forabosco P, Mocci E, Borlino CC, Picciau A, Virdis E, Persico I, Parracciani D, Angius A, Pirastu M. Falchi M, et al. Am J Hum Genet. 2004 Dec;75(6):1015-31. doi: 10.1086/426155. Epub 2004 Oct 11. Am J Hum Genet. 2004. PMID: 15478097 Free PMC article.
307 results