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

Year Number of Results
1967 1
1968 6
1969 1
1970 4
1971 2
1972 1
1973 1
1974 2
1975 2
1976 1
1977 1
1978 1
1979 3
1980 2
1981 3
1982 3
1983 6
1984 4
1985 3
1986 5
1988 2
1989 1
1990 3
1991 2
1992 1
1993 5
1994 4
1995 2
1996 8
1997 4
1998 6
1999 6
2000 5
2001 5
2002 1
2003 4
2004 6
2005 5
2006 3
2007 9
2008 4
2009 4
2010 5
2011 4
2012 9
2013 4
2014 1
2015 1
2016 4
2017 3
2018 1
2019 1
2020 4
2021 8
2022 3
2023 3
2024 1

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186 results

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Page 1
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: tenconi r. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: tenconi r. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Diagnosis of acute rhinosinusitis.
Esposito S, Marchisio P, Tenconi R, Tagliaferri L, Albertario G, Patria MF, Principi N. Esposito S, et al. Among authors: tenconi r. Pediatr Allergy Immunol. 2012 Aug;23 Suppl 22:17-9. doi: 10.1111/j.1399-3038.2012.01319.x. Pediatr Allergy Immunol. 2012. PMID: 22762849 Review.
Live attenuated intranasal influenza vaccine.
Esposito S, Montinaro V, Groppali E, Tenconi R, Semino M, Principi N. Esposito S, et al. Among authors: tenconi r. Hum Vaccin Immunother. 2012 Jan;8(1):76-80. doi: 10.4161/hv.8.1.18809. Epub 2012 Jan 1. Hum Vaccin Immunother. 2012. PMID: 22251995 Review.
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C, Harrison AN, Benkirane M, Oncel I, Arslan EA, Chassevent AK, Baraῆano K, Larrieu L, Iascone M, Tenconi R, Claustres M, Eroglu-Ertugrul N, Calvas P, Topaloglu H, Molday RS, Koenig M. Guissart C, et al. Among authors: tenconi r. J Neurol. 2020 Jan;267(1):203-213. doi: 10.1007/s00415-019-09579-4. Epub 2019 Oct 14. J Neurol. 2020. PMID: 31612321 Free article.
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S. Schöpflin R, et al. Among authors: tenconi r. Nat Commun. 2022 Oct 29;13(1):6470. doi: 10.1038/s41467-022-34053-7. Nat Commun. 2022. PMID: 36309531 Free PMC article.
Pathophysiology, favoring factors, and associated disorders in otorhinosinusology.
Gelardi M, Marchisio P, Caimmi D, Incorvaia C, Albertario G, Bianchini S, Caimmi S, Celani C, Esposito S, Fattizzo M, Fiorella ML, Frati F, Labò E, Leo G, Licari A, Marseglia A, Piacentini E, Pignataro L, Quaranta N, Tenconi R, Torretta S, Marseglia GL, Principi N. Gelardi M, et al. Among authors: tenconi r. Pediatr Allergy Immunol. 2012 Aug;23 Suppl 22:5-16. doi: 10.1111/j.1399-3038.2012.01323.x. Pediatr Allergy Immunol. 2012. PMID: 22762848 Review.
186 results