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Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: howard a. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I; Care4Rare Canada Consortium; Maas RL, Boycott K, Alkuraya FS. Faden M, et al. Among authors: howard a. Am J Hum Genet. 2015 Oct 1;97(4):608-15. doi: 10.1016/j.ajhg.2015.08.007. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365341 Free PMC article.
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Mendoza-Londono R, Fahiminiya S, Majewski J; Care4Rare Canada Consortium; Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bächinger HP, Rauch F. Mendoza-Londono R, et al. Among authors: howard a. Am J Hum Genet. 2015 Jun 4;96(6):979-85. doi: 10.1016/j.ajhg.2015.04.021. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027498 Free PMC article.
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L. Mendoza-Londono R, et al. Among authors: howard a. Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581468
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Gray MJ, et al. Among authors: howard a. Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001. Am J Hum Genet. 2015. PMID: 26637977 Free PMC article.
Tibial hemimelia associated with GLI3 truncation.
Deimling S, Sotiropoulos C, Lau K, Chaudhry S, Sturgeon K, Kelley S, Narayanan U, Howard A, Hui CC, Hopyan S. Deimling S, et al. Among authors: howard a. J Hum Genet. 2016 May;61(5):443-6. doi: 10.1038/jhg.2015.161. Epub 2016 Jan 21. J Hum Genet. 2016. PMID: 26791356
Search for exotic decays of the Higgs boson to a pair of pseudoscalars in the μμbb and ττbb final states.
CMS Collaboration; Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Del Valle AE, Hussain PS, Jeitler M, Krammer N, Liko D, Mikulec I, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Templ S, Waltenberger W, Wulz CE, Darwish MR, Janssen T, Van Mechelen P, Bols ES, D'Hondt J, Dansana S, De Moor A, Delcourt M, El Faham H, Lowette S, Makarenko I, Müller D, Sahasransu AR, Tavernier S, Tytgat M, Van Putte S, Vannerom D, Clerbaux B, De Lentdecker G, Favart L, Hohov D, Jaramillo J, Khalilzadeh A, Lee K, Mahdavikhorrami M, Malara A, Paredes S, Pétré L, Postiau N, Thomas L, Bemden MV, Velde CV, Vanlaer P, De Coen M, Dobur D, Hong Y, Knolle J, Lambrecht L, Mestdach G, Rendón C, Samalan A, Skovpen K, Van Den Bossche N, Wezenbeek L, Benecke A, Bruno G, Caputo C, Delaere C, Donertas IS, Giammanco A, Jaffel K, Jain S, Lemaitre V, Lidrych J, Mastrapasqua P, Mondal K, Tran TT, Wertz S, Alves GA, Coelho E, Hensel C, Menezes De Oliveira T, Moraes A, Rebello Teles P, Soeiro M, Aldá Júnior WL, Alves Gallo Pereira M, Barroso Ferreira Filho M, Brandao Malbouisson H, Carvalho W, Chinellato J, Da Costa EM, Da Silveira GG, De Jesus Damiao D, Fonseca De… See abstract for full author list ➔ CMS Collaboration, et al. Among authors: howard a. Eur Phys J C Part Fields. 2024;84(5):493. doi: 10.1140/epjc/s10052-024-12727-4. Epub 2024 May 14. Eur Phys J C Part Fields. 2024. PMID: 38757620 Free PMC article.
2,022 results