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Page 1
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Mayer L, Jasztal M, Pardo M, Aguera de Haro S, Collins J, Bariana TK, Smethurst PA, Grassi L, Petersen R, Nurden P, Favier R, Yu L, Meacham S, Astle WJ, Choudhary J, Yue WW, Ouwehand WH, Guerrero JA. Mayer L, et al. Among authors: favier r. Blood. 2018 Mar 1;131(9):1000-1011. doi: 10.1182/blood-2017-08-800359. Epub 2017 Nov 29. Blood. 2018. PMID: 29187380 Free PMC article.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium; Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD. Stritt S, et al. Among authors: favier r. Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24. Blood. 2016. PMID: 26912466 Free article.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart D, Hurtaud MF, Kelly AM, Kerr R, Le Quellec S, Leblanc T, Leinøe EB, Mapeta R, McKinney H, Michelson AD, Morais S, Nugent D, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JKM, Zieger B; NIHR BioResource; Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber WN, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA. Sims MC, et al. Among authors: favier r. Blood. 2020 Oct 22;136(17):1956-1967. doi: 10.1182/blood.2019004776. Blood. 2020. PMID: 32693407 Free PMC article.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E. Simeoni I, et al. Among authors: favier r. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. Blood. 2016. PMID: 27084890 Free PMC article.
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Hofmann I, Geer MJ, Vögtle T, Crispin A, Campagna DR, Barr A, Calicchio ML, Heising S, van Geffen JP, Kuijpers MJE, Heemskerk JWM, Eble JA, Schmitz-Abe K, Obeng EA, Douglas M, Freson K, Pondarré C, Favier R, Jarvis GE, Markianos K, Turro E, Ouwehand WH, Mazharian A, Fleming MD, Senis YA. Hofmann I, et al. Among authors: favier r. Blood. 2018 Sep 27;132(13):1399-1412. doi: 10.1182/blood-2017-08-802769. Epub 2018 Jun 13. Blood. 2018. PMID: 29898956 Free PMC article.
A mutation of the human EPHB2 gene leads to a major platelet functional defect.
Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M. Berrou E, et al. Among authors: favier r. Blood. 2018 Nov 8;132(19):2067-2077. doi: 10.1182/blood-2018-04-845644. Epub 2018 Sep 13. Blood. 2018. PMID: 30213874 Free article.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource; Frontini M, Freson K, Turro E. Lentaigne C, et al. Among authors: favier r. Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782. Blood. 2019. PMID: 31217188 Free article.
Neutrophil specific granule and NETosis defects in gray platelet syndrome.
Aarts CEM, Downes K, Hoogendijk AJ, Sprenkeler EGG, Gazendam RP, Favier R, Favier M, Tool ATJ, van Hamme JL, Kostadima MA, Waller K, Zieger B, van Bergen MGJM, Langemeijer SMC, van der Reijden BA, Janssen H, van den Berg TK, van Bruggen R, Meijer AB, Ouwehand WH, Kuijpers TW. Aarts CEM, et al. Among authors: favier r, favier m. Blood Adv. 2021 Jan 26;5(2):549-564. doi: 10.1182/bloodadvances.2020002442. Blood Adv. 2021. PMID: 33496751 Free PMC article.
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH. Albers CA, et al. Among authors: favier r. Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885. Nat Genet. 2011. PMID: 21765411 Free PMC article.
274 results