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

Year Number of Results
2001 1
2002 2
2003 4
2004 2
2005 4
2006 2
2007 3
2008 2
2009 2
2012 3
2013 2
2014 3
2015 3
2016 3
2017 5
2018 3
2019 3
2020 4
2021 8
2022 6
2023 4

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64 results

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Page 1
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Motta M, et al. Among authors: flex e. Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27. Am J Hum Genet. 2020. PMID: 32721402 Free PMC article.
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
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
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.
Progressive extreme heterotopic calcification.
Silengo M, Defilippi C, Belligni E, Biamino E, Flex E, Brusco A, Ferrero GB, Tartaglia M, Hennekam RC. Silengo M, et al. Among authors: flex e. Am J Med Genet A. 2013 Jul;161A(7):1706-13. doi: 10.1002/ajmg.a.35944. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686761
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Among authors: flex e. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: flex e. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
64 results