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

Year Number of Results
1997 1
1999 2
2000 4
2001 1
2002 1
2003 1
2004 3
2005 2
2006 5
2007 4
2008 3
2009 5
2010 6
2011 10
2012 16
2013 9
2014 10
2015 7
2016 6
2017 5
2018 14
2019 10
2020 7
2021 14
2022 11
2023 6

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146 results

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Page 1
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: bertola dr. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: bertola dr. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa E, et al. Among authors: bertola dr. Clin Genet. 2023 Apr;103(4):383-391. doi: 10.1111/cge.14296. Epub 2023 Jan 25. Clin Genet. 2023. PMID: 36645289 Review.
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: bertola dr. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: bertola dr. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
Targeted massively parallel sequencing for congenital generalized lipodystrophy.
Costa-Riquetto AD, Santana LS, Caetano LA, Lerário AM, Correia-Deur JEM, Bertola DR, Kim CA, Nery M, Jorge AAL, Teles MG. Costa-Riquetto AD, et al. Among authors: bertola dr. Arch Endocrinol Metab. 2021 May 18;64(5):559-566. doi: 10.20945/2359-3997000000278. Arch Endocrinol Metab. 2021. PMID: 34033296 Free PMC article.
Two novel pathogenic variants in MED13L: one familial and one isolated case.
Carvalho LML, da Costa SS, Campagnari F, Kaufman A, Bertola DR, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Among authors: bertola dr. J Intellect Disabil Res. 2021 Dec;65(12):1049-1057. doi: 10.1111/jir.12891. Epub 2021 Oct 28. J Intellect Disabil Res. 2021. PMID: 34713510 Review.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Seyama R, et al. Among authors: bertola dr. Genomics. 2022 Sep;114(5):110468. doi: 10.1016/j.ygeno.2022.110468. Epub 2022 Aug 27. Genomics. 2022. PMID: 36041635 Free article.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: bertola dr. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
146 results