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Page 1
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. Johannesen K, et al. Among authors: hudson c. Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12. Neurology. 2016. PMID: 27521439
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Kruszka P, et al. Among authors: hudson c. J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20. J Med Genet. 2015. PMID: 25412741 Free PMC article.
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. Gripp KW, et al. Among authors: hudson c. Am J Med Genet A. 2011 Apr;155A(4):706-16. doi: 10.1002/ajmg.a.33884. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438134 Free PMC article.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: hudson c. Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154674 Free PMC article.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA. Huang L, et al. Among authors: hudson c. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Hum Mutat. 2016. PMID: 26507355 Free PMC article. Review.
Life expectancy for dogs from the City of Buenos Aires.
De Gennaro MF, Isturiz ML, Pucheta C, Hudson CR, Quiroga ME, Ramirez SE, Akiyama SN, Rivas RSV, Krapp F, De Seta MP. De Gennaro MF, et al. Among authors: hudson cr. Res Vet Sci. 2024 May 23;174:105312. doi: 10.1016/j.rvsc.2024.105312. Online ahead of print. Res Vet Sci. 2024. PMID: 38810472
1,041 results