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Page 1
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study; Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. den Hoed J, et al. Among authors: fisher se. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28. Am J Hum Genet. 2021. PMID: 33513338 Free PMC article.
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP. Lai CS, et al. Among authors: fisher se. Am J Hum Genet. 2000 Aug;67(2):357-68. doi: 10.1086/303011. Epub 2000 Jul 5. Am J Hum Genet. 2000. PMID: 10880297 Free PMC article.
FOXP2 is not a major susceptibility gene for autism or specific language impairment.
Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium. Newbury DF, et al. Among authors: fisher se. Am J Hum Genet. 2002 May;70(5):1318-27. doi: 10.1086/339931. Epub 2002 Mar 13. Am J Hum Genet. 2002. PMID: 11894222 Free PMC article.
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL. Fisher SE, et al. Am J Hum Genet. 2002 May;70(5):1183-96. doi: 10.1086/340112. Epub 2002 Mar 28. Am J Hum Genet. 2002. PMID: 11923911 Free PMC article.
Use of multivariate linkage analysis for dissection of a complex cognitive trait.
Marlow AJ, Fisher SE, Francks C, MacPhie IL, Cherny SS, Richardson AJ, Talcott JB, Stein JF, Monaco AP, Cardon LR. Marlow AJ, et al. Among authors: fisher se. Am J Hum Genet. 2003 Mar;72(3):561-70. doi: 10.1086/368201. Epub 2003 Feb 13. Am J Hum Genet. 2003. PMID: 12587094 Free PMC article.
408 results