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

Year Number of Results
2001 2
2002 5
2003 4
2004 2
2007 3
2008 4
2009 4
2010 3
2011 6
2012 1
2013 3
2014 1
2015 2
2016 2
2017 1
2018 2
2019 2
2020 2
2021 2
2022 3
2023 1
2024 0

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PubMed (GeneRIF) for id: 2812

47 results

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Page 1
Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.
Dib F, Quéméner A, Bayart S, Boisseau P, Babuty A, Trossaërt M, Sigaud M, Ternisien C, Drillaud N, Eveillard M, Guillet B, Béné MC, Fouassier M. Dib F, et al. Br J Haematol. 2022 Dec;199(5):744-753. doi: 10.1111/bjh.18462. Epub 2022 Sep 29. Br J Haematol. 2022. PMID: 36173017 Free article.
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F, Steri M, Orrù V, Sole G, Olla S, Marongiu M, Maschio A, Sidore C, Lai S, Mulas A, Zoledziewska M, Floris M, Pala M, Forabosco P, Asunis I, Pitzalis M, Deidda F, Masala M, Caria CA, Barella S, Abecasis GR, Schlessinger D, Sanna S, Fiorillo E, Cucca F. Busonero F, et al. Br J Haematol. 2020 Dec;191(5):e124-e128. doi: 10.1111/bjh.17090. Epub 2020 Nov 20. Br J Haematol. 2020. PMID: 33216977 Free PMC article. No abstract available.
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Fiore M, De Thoré C, Randrianaivo-Ranjatoelina H, Baas MJ, Jacquemont ML, Dreyfus M, Lavenu-Bombled C, Li R, Gachet C, Dupuis A, Lanza F. Fiore M, et al. Br J Haematol. 2020 May;189(3):e67-e71. doi: 10.1111/bjh.16479. Epub 2020 Jan 30. Br J Haematol. 2020. PMID: 31997307 Free PMC article. No abstract available.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource; Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E. Sivapalaratnam S, et al. Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14. Blood. 2017. PMID: 28064200 Free PMC article.
47 results