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Page 1
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P. Bonnefond A, et al. Among authors: stutzmann f. J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778136 Free PMC article.
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H. Marion V, et al. Among authors: stutzmann f. J Med Genet. 2012 May;49(5):317-21. doi: 10.1136/jmedgenet-2012-100737. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510444
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E, Zaloszyc A, Lauer J, Durand M, Stutzmann F, Perdomo-Trujillo Y, Redin C, Bennouna Greene V, Toutain A, Perrin L, Gérard M, Caillard S, Bei X, Lewis RA, Christmann D, Letsch J, Kribs M, Mutter C, Muller J, Stoetzel C, Fischbach M, Marion V, Katsanis N, Dollfus H. Schaefer E, et al. Among authors: stutzmann f. Mol Syndromol. 2011 Sep;1(6):273-281. doi: 10.1159/000331268. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190896 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: stutzmann f. Nature. 2010 Feb 4;463(7281):671-5. doi: 10.1038/nature08727. Nature. 2010. PMID: 20130649 Free PMC article.
Analysis of the SIM1 contribution to polygenic obesity in the French population.
Ghoussaini M, Stutzmann F, Couturier C, Vatin V, Durand E, Lecoeur C, Degraeve F, Heude B, Tauber M, Hercberg S, Levy-Marchal C, Tounian P, Weill J, Traurig M, Bogardus C, Baier LJ, Michaud JL, Froguel P, Meyre D. Ghoussaini M, et al. Among authors: stutzmann f. Obesity (Silver Spring). 2010 Aug;18(8):1670-5. doi: 10.1038/oby.2009.468. Epub 2010 Jan 14. Obesity (Silver Spring). 2010. PMID: 20075856 Free PMC article.
Combined effects of MC4R and FTO common genetic variants on obesity in European general populations.
Cauchi S, Stutzmann F, Cavalcanti-Proença C, Durand E, Pouta A, Hartikainen AL, Marre M, Vol S, Tammelin T, Laitinen J, Gonzalez-Izquierdo A, Blakemore AI, Elliott P, Meyre D, Balkau B, Järvelin MR, Froguel P. Cauchi S, et al. Among authors: stutzmann f. J Mol Med (Berl). 2009 May;87(5):537-46. doi: 10.1007/s00109-009-0451-6. Epub 2009 Mar 3. J Mol Med (Berl). 2009. PMID: 19255736
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