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Items: 12


Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Ha K, Anand P, Lee JA, Jones JR, Kim CA, Bertola DR, Labonne JD, Layman LC, Wenzel W, Kim HG.

Genes (Basel). 2016 Nov 9;7(11). pii: E96.


A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG.

BMC Neurol. 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z.


An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.

Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, Kim CH, Kim HG.

Hum Genet. 2016 Jul;135(7):757-71. doi: 10.1007/s00439-016-1668-4. Epub 2016 Apr 22.


Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Labonne JD, Shen Y, Kong IK, Diamond MP, Layman LC, Kim HG.

Mol Cytogenet. 2016 Mar 17;9:24. doi: 10.1186/s13039-016-0234-z. eCollection 2016.


A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG.

Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi: 10.1002/ajmg.a.37344. Epub 2015 Sep 3.


Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG.

Gene. 2016 Jan 1;575(1):42-7. doi: 10.1016/j.gene.2015.08.032. Epub 2015 Aug 20.


Differential nuclease sensitivity profiling of chromatin reveals biochemical footprints coupled to gene expression and functional DNA elements in maize.

Vera DL, Madzima TF, Labonne JD, Alam MP, Hoffman GG, Girimurugan SB, Zhang J, McGinnis KM, Dennis JH, Bass HW.

Plant Cell. 2014 Oct;26(10):3883-93. doi: 10.1105/tpc.114.130609. Epub 2014 Oct 31.


Changes in nucleosome position at transcriptional start sites of specific genes in Zea mays mediator of paramutation1 mutants.

Labonne JD, Dorweiler JE, McGinnis KM.

Epigenetics. 2013 Apr;8(4):398-408. doi: 10.4161/epi.24199. Epub 2013 Mar 28.


Positional cloning of the s haplotype determining the floral and incompatibility phenotype of the long-styled morph of distylous Turnera subulata.

Labonne JD, Shore JS.

Mol Genet Genomics. 2011 Feb;285(2):101-11. doi: 10.1007/s00438-010-0590-z. Epub 2010 Nov 27.


Characterization of X-ray-generated floral mutants carrying deletions at the S-locus of distylous Turnera subulata.

Labonne JD, Tamari F, Shore JS.

Heredity (Edinb). 2010 Aug;105(2):235-43. doi: 10.1038/hdy.2010.39. Epub 2010 Apr 14. Erratum in: Heredity. 2010 Aug;105(2):244.


Construction of a first genetic map of distylous Turnera and a fine-scale map of the S-locus region.

Labonne JD, Vaisman A, Shore JS.

Genome. 2008 Jul;51(7):471-8. doi: 10.1139/G08-031.


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