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Year Number of Results
2009 1
2010 1
2014 2
2017 2
2018 1
2019 1
2020 3
2021 3
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2023 3
2024 0

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16 results

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Page 1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, … See abstract for full author list ➔ Cogné B, et al. Among authors: filippini f. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
Secretion of VGF relies on the interplay between LRRK2 and post-Golgi v-SNAREs.
Filippini F, Nola S, Zahraoui A, Roger K, Esmaili M, Sun J, Wojnacki J, Vlieghe A, Bun P, Blanchon S, Rain JC, Taymans JM, Chartier-Harlin MC, Guerrera C, Galli T. Filippini F, et al. Cell Rep. 2023 Mar 28;42(3):112221. doi: 10.1016/j.celrep.2023.112221. Epub 2023 Mar 10. Cell Rep. 2023. PMID: 36905628 Free article.
Role of VAMP7-dependent secretion of reticulon 3 in neurite growth.
Wojnacki J, Nola S, Bun P, Cholley B, Filippini F, Pressé MT, Lipecka J, Lam SM, N'guyen J, Simon A, Ouslimani A, Shui G, Fader CM, Colombo MI, Guerrera IC, Galli T. Wojnacki J, et al. Among authors: filippini f. Cell Rep. 2021 Apr 13;35(2):109006. doi: 10.1016/j.celrep.2021.109006. Cell Rep. 2021. PMID: 33852853 Free article. No abstract available.
Role of VAMP7-Dependent Secretion of Reticulon 3 in Neurite Growth.
Wojnacki J, Nola S, Bun P, Cholley B, Filippini F, Pressé MT, Lipecka J, Man Lam S, N'guyen J, Simon A, Ouslimani A, Shui G, Fader CM, Colombo MI, Guerrera IC, Galli T. Wojnacki J, et al. Among authors: filippini f. Cell Rep. 2020 Dec 22;33(12):108536. doi: 10.1016/j.celrep.2020.108536. Cell Rep. 2020. PMID: 33357422 Free article.
B vitamin blood concentrations and one-carbon metabolism polymorphisms in a sample of Italian women and men attending a unit of transfusion medicine: a cross-sectional study.
Bortolus R, Filippini F, Udali S, Rinaldi M, Genesini S, Gandini G, Montagnana M, Chiaffarino F, Lippi G, Pattini P, De Grandi G, Olivieri O, Parazzini F, Friso S. Bortolus R, et al. Among authors: filippini f. Eur J Nutr. 2021 Aug;60(5):2643-2654. doi: 10.1007/s00394-020-02448-1. Epub 2020 Dec 29. Eur J Nutr. 2021. PMID: 33373019 Free PMC article.
Why women do not ask for information on preconception health? A qualitative study.
Bortolus R, Oprandi NC, Rech Morassutti F, Marchetto L, Filippini F, Agricola E, Tozzi AE, Castellani C, Lalatta F, Rusticali B, Mastroiacovo P. Bortolus R, et al. Among authors: filippini f. BMC Pregnancy Childbirth. 2017 Jan 5;17(1):5. doi: 10.1186/s12884-016-1198-z. BMC Pregnancy Childbirth. 2017. PMID: 28056865 Free PMC article.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. Mak CCY, et al. Among authors: filippini f. Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. Brain. 2020. PMID: 31834374 Free PMC article.
Lifestyle and dietary factors, iron status and one-carbon metabolism polymorphisms in a sample of Italian women and men attending a Transfusion Medicine Unit: a cross-sectional study.
Bortolus R, Filippini F, Chiaffarino F, Udali S, Rinaldi M, Gandini G, Montagnana M, Lippi G, Olivieri O, Parazzini F, Friso S. Bortolus R, et al. Among authors: filippini f. Br J Nutr. 2023 Jul 14;130(1):65-70. doi: 10.1017/S0007114522003245. Epub 2022 Oct 28. Br J Nutr. 2023. PMID: 36305043 Free PMC article.
16 results