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103 results

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Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: van allen mi. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.
Renpenning syndrome in a female.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Among authors: van allen mi. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. Friedman JM, et al. Among authors: van allen mi. Am J Hum Genet. 2006 Sep;79(3):500-13. doi: 10.1086/507471. Epub 2006 Jul 25. Am J Hum Genet. 2006. PMID: 16909388 Free PMC article.
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA. Friedman J, et al. Among authors: van allen mi. BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526. BMC Genomics. 2009. PMID: 19917086 Free PMC article.
Methylation profiling in individuals with Russell-Silver syndrome.
Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP. Peñaherrera MS, et al. Among authors: van allen mi. Am J Med Genet A. 2010 Feb;152A(2):347-55. doi: 10.1002/ajmg.a.33204. Am J Med Genet A. 2010. PMID: 20082469
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study; Suri M, Elmslie F; Deciphering Developmental Disorders Study; Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ. Guella I, et al. Among authors: van allen mi. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004. Am J Hum Genet. 2017. PMID: 28777935 Free PMC article.
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M. Guella I, et al. Among authors: van allen mi. Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27872899 Free PMC article.
103 results