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Year Number of Results
2004 1
2005 1
2006 3
2007 1
2008 3
2009 1
2011 2
2012 3
2013 3
2015 1
2016 5
2017 3
2018 2
2019 5
2020 3
2021 2
2022 3
2023 1
2024 1

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41 results

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Page 1
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K… See abstract for full author list ➔ Küry S, et al. Among authors: boisseau p. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: boisseau p. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
MYH9-related disease: Assessment of the pathogenicity of a new mutation.
Antoine B, Boisseau P, Drillaud N, Eveillard M, Fouassier M. Antoine B, et al. Among authors: boisseau p. EJHaem. 2023 May 17;4(3):869-871. doi: 10.1002/jha2.715. eCollection 2023 Aug. EJHaem. 2023. PMID: 37601883 Free PMC article. No abstract available.
Baseline dysmegakaryopoiesis in inherited thrombocytopenia/platelet disorder with predisposition to haematological malignancies.
Fournier E, Debord C, Soenen V, Trillot N, Gonzales F, Tintiller V, Terriou L, Derrieux C, Abou Chahla W, Paris C, Berthon C, Boyer T, Lambilliotte A, Boisseau P, Wuillème S, Fouassier M, Susen S, Preudhomme C, Duployez N. Fournier E, et al. Among authors: boisseau p. Br J Haematol. 2020 May;189(4):e119-e122. doi: 10.1111/bjh.16543. Epub 2020 Feb 27. Br J Haematol. 2020. PMID: 32103500 Free article. No abstract available.
Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.
Dubois MD, Peyron I, Pierre-Louis ON, Pierre-Louis S, Rabout J, Boisseau P, de Jong A, Susen S, Goudemand J, Neviere R, Fuseau P, Christophe OD, Lenting PJ, Denis CV, Casari C. Dubois MD, et al. Among authors: boisseau p. Res Pract Thromb Haemost. 2022 Jun 15;6(4):e12737. doi: 10.1002/rth2.12737. eCollection 2022 May. Res Pract Thromb Haemost. 2022. PMID: 35734101 Free PMC article.
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. Among authors: boisseau p. 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.
Identification of new F8 deep intronic variations in patients with haemophilia A.
Dericquebourg A, Jourdy Y, Fretigny M, Lienhart A, Claeyssens S, Ternisien C, Boisseau P, Rohrlich PS, Négrier C, Vinciguerra C. Dericquebourg A, et al. Among authors: boisseau p. Haemophilia. 2020 Sep;26(5):847-854. doi: 10.1111/hae.14134. Epub 2020 Aug 18. Haemophilia. 2020. PMID: 32812322
41 results