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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 2
2004 1
2005 2
2006 2
2007 3
2008 2
2009 2
2012 3
2013 2
2014 3
2015 3
2016 2
2017 3
2018 1
2019 3
2020 4
2021 8
2022 6
2023 8
2024 2

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59 results

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Page 1
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M. Melo US, et al. Among authors: flex e. Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8. Nat Commun. 2023. PMID: 37041138 Free PMC article.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Flex E, Albadri S, Radio FC, Cecchetti S, Lauri A, Priolo M, Kissopoulos M, Carpentieri G, Fasano G, Venditti M, Magliocca V, Bellacchio E, Welch CL, Colombo PC, Kochav SM, Chang R, Barrick R, Trivisano M, Micalizzi A, Borghi R, Messina E, Mancini C, Pizzi S, De Santis F, Rosello M, Specchio N, Compagnucci C, McWalter K, Chung WK, Del Bene F, Tartaglia M. Flex E, et al. Hum Mol Genet. 2023 Jan 13;32(3):473-488. doi: 10.1093/hmg/ddac213. Hum Mol Genet. 2023. PMID: 36018820 Free PMC article.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. Pierpont EI, et al. Among authors: flex e. Am J Med Genet A. 2024 Apr;194(4):e63477. doi: 10.1002/ajmg.a.63477. Epub 2023 Nov 15. Am J Med Genet A. 2024. PMID: 37969032
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Arfeuille C, Vial Y, Cadenet M, Caye-Eude A, Fenneteau O, Neven Q, Bonnard AA, Pizzi S, Carpentieri G, Capri Y, Girardi K, Pedace L, Macchiaiolo M, Boudhar K, Khaled MB, Chahla WA, Lutun A, Fahd M, Drunat S, Flex E, Dalle JH, Strullu M, Locatelli F, Tartaglia M, Cavé H. Arfeuille C, et al. Among authors: flex e. Haematologica. 2023 Nov 16. doi: 10.3324/haematol.2023.283917. Online ahead of print. Haematologica. 2023. PMID: 37981895 Free article.
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.
Leoni C, Viscogliosi G, Onesimo R, Bisanti C, Massese M, Giorgio V, Corbo F, Tedesco M, Acampora A, Cipolla C, Dell'Atti C, Flex E, Gervasoni J, Primiano A, Rigante D, Tartaglia M, Zampino G. Leoni C, et al. Among authors: flex e. Am J Med Genet A. 2022 Feb;188(2):414-421. doi: 10.1002/ajmg.a.62588. Epub 2021 Dec 2. Am J Med Genet A. 2022. PMID: 34854525
Metabolic profiling of Costello syndrome: Insights from a single-center cohort.
Leoni C, Massese M, Gervasoni J, Primiano A, Giorgio V, Onesimo R, Kuczynska E, Rigante D, Persichilli S, Carpentieri G, Flex E, Pastorino R, Tartaglia M, Zampino G. Leoni C, et al. Among authors: flex e. Eur J Med Genet. 2022 Mar;65(3):104439. doi: 10.1016/j.ejmg.2022.104439. Epub 2022 Jan 29. Eur J Med Genet. 2022. PMID: 35101635
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, Ceròn J, Porta-de-la-Riva M, Ludovico O, Carella M, Martinelli S, Marchetti P, Mazza T, Froguel P, Trischitta V, Doria A, Prudente S. Jungtrakoon Thamtarana P, et al. Among authors: flex e. J Clin Endocrinol Metab. 2022 Feb 17;107(3):668-684. doi: 10.1210/clinem/dgab790. J Clin Endocrinol Metab. 2022. PMID: 34718610 Free PMC article.
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD. Dhandapany PS, et al. Among authors: flex e. Nat Genet. 2014 Jun;46(6):635-639. doi: 10.1038/ng.2963. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777450 Free PMC article.
59 results