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

Year Number of Results
2004 1
2007 1
2009 2
2010 3
2011 4
2012 7
2013 5
2014 4
2015 6
2016 5
2018 4
2019 4
2020 3
2021 8
2022 4
2023 4
2024 5

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62 results

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Page 1
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.
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
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ, Di Lazzaro Filho R, Bertola DR, Hoch NC. Martins DJ, et al. Among authors: bertola dr. Front Aging. 2023 Nov 10;4:1296409. doi: 10.3389/fragi.2023.1296409. eCollection 2023. Front Aging. 2023. PMID: 38021400 Free PMC article. Review.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR. Di Lazzaro Filho R, et al. Among authors: bertola dr. J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055165
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.
Natural history of 39 patients with Achondroplasia.
Ceroni JRM, Soares DCQ, Testai LC, Kawahira RSH, Yamamoto GL, Sugayama SMM, Oliveira LAN, Bertola DR, Kim CA. Ceroni JRM, et al. Among authors: bertola dr. Clinics (Sao Paulo). 2018 Jul 2;73:e324. doi: 10.6061/clinics/2018/e324. Clinics (Sao Paulo). 2018. PMID: 29972438 Free PMC article.
Ocular manifestations of Noonan syndrome.
Marin Lda R, da Silva FT, de Sá LC, Brasil AS, Pereira A, Furquim IM, Kim CA, Bertola DR. Marin Lda R, et al. Among authors: bertola dr. Ophthalmic Genet. 2012 Mar;33(1):1-5. doi: 10.3109/13816810.2011.593606. Epub 2011 Aug 4. Ophthalmic Genet. 2012. PMID: 21815719
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
Moreira DP, Suzuki AM, Silva ALTE, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari MFR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann KS, de Lima MA, Nader HB, Sertié AL, Passos-Bueno MR. Moreira DP, et al. Among authors: bertola dr. Front Cell Neurosci. 2022 Jan 13;15:803302. doi: 10.3389/fncel.2021.803302. eCollection 2021. Front Cell Neurosci. 2022. PMID: 35095425 Free PMC article.
62 results