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Results: 1 to 20 of 25

1.

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A.

Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1.

PMID:
24986922
[PubMed - in process]
Free PMC Article
2.

Adult expression of a 3q13.31 microdeletion.

Lowther C, Costain G, Melvin R, Stavropoulos DJ, Lionel AC, Marshall CR, Scherer SW, Bassett AS.

Mol Cytogenet. 2014 Mar 20;7(1):23. doi: 10.1186/1755-8166-7-23.

PMID:
24650298
[PubMed]
Free PMC Article
3.

Developmental and adult GAP-43 deficiency in mice dynamically alters hippocampal neurogenesis and mossy fiber volume.

Latchney SE, Masiulis I, Zaccaria KJ, Lagace DC, Powell CM, McCasland JS, Eisch AJ.

Dev Neurosci. 2014;36(1):44-63. doi: 10.1159/000357840. Epub 2014 Feb 26.

PMID:
24576816
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.

Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF.

Mol Autism. 2014 Jan 27;5(1):5. doi: 10.1186/2040-2392-5-5.

PMID:
24467814
[PubMed]
Free PMC Article
5.
6.

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Gimelli S, Leoni M, Di Rocco M, Caridi G, Porta S, Cuoco C, Gimelli G, Tassano E.

Mol Cytogenet. 2013 Nov 26;6(1):52. doi: 10.1186/1755-8166-6-52.

PMID:
24279697
[PubMed]
Free PMC Article
7.

Altered neural connectivity in excitatory and inhibitory cortical circuits in autism.

Zikopoulos B, Barbas H.

Front Hum Neurosci. 2013 Sep 27;7:609. doi: 10.3389/fnhum.2013.00609. eCollection 2013.

PMID:
24098278
[PubMed]
Free PMC Article
8.

Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database.

Menashe I, Larsen EC, Banerjee-Basu S.

PLoS One. 2013 Jun 18;8(6):e66707. Print 2013.

PMID:
23825557
[PubMed - as supplied by publisher]
Free PMC Article
9.

Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway.

Lahiri DK, Sokol DK, Erickson C, Ray B, Ho CY, Maloney B.

Front Cell Neurosci. 2013 Jun 21;7:94. doi: 10.3389/fncel.2013.00094. eCollection 2013.

PMID:
23801940
[PubMed]
Free PMC Article
10.
11.

Identification of rare variants from exome sequence in a large pedigree with autism.

Marchani EE, Chapman NH, Cheung CY, Ankenman K, Stanaway IB, Coon HH, Nickerson D, Bernier R, Brkanac Z, Wijsman EM.

Hum Hered. 2012;74(3-4):153-64. doi: 10.1159/000346560. Epub 2013 Apr 11.

PMID:
23594493
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Increased de novo copy number variants in the offspring of older males.

Flatscher-Bader T, Foldi CJ, Chong S, Whitelaw E, Moser RJ, Burne TH, Eyles DW, McGrath JJ.

Transl Psychiatry. 2011 Aug 30;1:e34. doi: 10.1038/tp.2011.30.

PMID:
22832608
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach.

Brown AA, Jensen J, Nikolova YS, Djurovic S, Agartz I, Server A, Ferrell RE, Manuck SB, Mattingsdal M, Melle I, Hariri AR, Frigessi A, Andreassen OA.

Transl Psychiatry. 2012 Jul 24;2:e143. doi: 10.1038/tp.2012.67.

PMID:
22828495
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Sequence and expression analysis of gaps in human chromosome 20.

Minocherhomji S, Seemann S, Mang Y, El-Schich Z, Bak M, Hansen C, Papadopoulos N, Josefsen K, Nielsen H, Gorodkin J, Tommerup N, Silahtaroglu A.

Nucleic Acids Res. 2012 Aug;40(14):6660-72. Epub 2012 Apr 17.

PMID:
22510267
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G.

J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17.

PMID:
22180640
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice.

Zaccaria KJ, Lagace DC, Eisch AJ, McCasland JS.

Genes Brain Behav. 2010 Nov;9(8):985-96. doi: 10.1111/j.1601-183X.2010.00638.x.

PMID:
20707874
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees.

Coon H, Villalobos ME, Robison RJ, Camp NJ, Cannon DS, Allen-Brady K, Miller JS, McMahon WM.

Mol Autism. 2010 Apr 8;1(1):8. doi: 10.1186/2040-2392-1-8.

PMID:
20678250
[PubMed]
Free PMC Article
18.

Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders.

Cannon DS, Miller JS, Robison RJ, Villalobos ME, Wahmhoff NK, Allen-Brady K, McMahon WM, Coon H.

Mol Autism. 2010 Feb 22;1(1):3. doi: 10.1186/2040-2392-1-3.

PMID:
20678246
[PubMed]
Free PMC Article
19.

Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder.

Rommelse NN, Franke B, Geurts HM, Hartman CA, Buitelaar JK.

Eur Child Adolesc Psychiatry. 2010 Mar;19(3):281-95. doi: 10.1007/s00787-010-0092-x. Epub 2010 Feb 11. Review.

PMID:
20148275
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Locations and patterns of meiotic recombination in two-generation pedigrees.

Ting JC, Roberson ED, Currier DG, Pevsner J.

BMC Med Genet. 2009 Sep 17;10:93. doi: 10.1186/1471-2350-10-93.

PMID:
19761602
[PubMed - indexed for MEDLINE]
Free PMC Article
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