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109 results

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Among authors: innis jw. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. Among authors: innis jw. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.
Butler MG, Dagenais SL, Garcia-Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW. Butler MG, et al. Among authors: innis jw. Am J Med Genet A. 2012 Apr;158A(4):839-49. doi: 10.1002/ajmg.a.35229. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407726 Free PMC article.
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK. Shang L, et al. Neurogenetics. 2016 Jan;17(1):43-9. doi: 10.1007/s10048-015-0466-9. Epub 2015 Nov 17. Neurogenetics. 2016. PMID: 26576547 Free PMC article.
Familial syndromic esophageal atresia maps to 2p23-p24.
Celli J, van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Córdoba SR, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG. Celli J, et al. Among authors: innis jw. Am J Hum Genet. 2000 Feb;66(2):436-44. doi: 10.1086/302779. Am J Hum Genet. 2000. PMID: 10677303 Free PMC article.
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.
DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. DeScipio C, et al. Among authors: innis jw. Am J Med Genet A. 2005 Sep 1;137A(3):276-82. doi: 10.1002/ajmg.a.30857. Am J Med Genet A. 2005. PMID: 16075459 Free PMC article. Review.
109 results