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Results: 1 to 20 of 58

1.
2.

Arabidopsis heterotrimeric G-proteins play a critical role in host and nonhost resistance against Pseudomonas syringae pathogens.

Lee S, Rojas CM, Ishiga Y, Pandey S, Mysore KS.

PLoS One. 2013 Dec 5;8(12):e82445. doi: 10.1371/journal.pone.0082445. eCollection 2013.

PMID:
24349286
[PubMed - in process]
Free PMC Article
3.

X-linked intellectual disability-associated mutations in synaptophysin disrupt synaptobrevin II retrieval.

Gordon SL, Cousin MA.

J Neurosci. 2013 Aug 21;33(34):13695-700. doi: 10.1523/JNEUROSCI.0636-13.2013.

PMID:
23966691
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

Jorge P, Oliveira B, Marques I, Santos R.

BMC Med Genet. 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80.

PMID:
23914978
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.

Marshall LS, Simon J, Wood T, Peng M, Owen R, Feldman GS, Zaragoza MV.

BMC Med Genet. 2013 May 1;14:49. doi: 10.1186/1471-2350-14-49.

PMID:
23634718
[PubMed - in process]
Free PMC Article
6.

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY.

Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24.

PMID:
23615299
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders.

Penzes P, Buonanno A, Passafaro M, Sala C, Sweet RA.

J Neurochem. 2013 Jul;126(2):165-82. doi: 10.1111/jnc.12261. Epub 2013 May 22. Review.

PMID:
23574039
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Event-related potential alterations in fragile X syndrome.

Knoth IS, Lippé S.

Front Hum Neurosci. 2012 Sep 24;6:264. eCollection 2012.

PMID:
23015788
[PubMed]
Free PMC Article
9.

The histone demethylase PHF8 is essential for cytoskeleton dynamics.

Asensio-Juan E, Gallego C, Martínez-Balbás MA.

Nucleic Acids Res. 2012 Oct;40(19):9429-40. doi: 10.1093/nar/gks716. Epub 2012 Jul 31.

PMID:
22850744
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Takano K, Liu D, Tarpey P, Gallant E, Lam A, Witham S, Alexov E, Chaubey A, Stevenson RE, Schwartz CE, Board PG, Dulhunty AF.

Hum Mol Genet. 2012 Oct 15;21(20):4497-507. Epub 2012 Jul 19.

PMID:
22814392
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Investigation of genetic causes of intellectual disability in kerman province, South East of iran.

Soltani Banavandi MJ, Kahrizi K, Behjati F, Mohseni M, Darvish H, Bahman I, Abedinni SS, Ghasemi Firouzabadi S, Jafari E, Ghadami Sh, Sabbagh F, Kavoosi GR, Najmabadi H.

Iran Red Crescent Med J. 2012 Feb;14(2):79-85. Epub 2012 Feb 1.

PMID:
22737560
[PubMed]
Free PMC Article
12.

New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins.

Kelly S, Pak C, Garshasbi M, Kuss A, Corbett AH, Moberg K.

RNA Biol. 2012 May;9(5):555-62. doi: 10.4161/rna.20187. Epub 2012 May 1.

PMID:
22614829
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.

Utine GE, Kiper PO, Alanay Y, Haliloğlu G, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M.

Mol Syndromol. 2012 Jan;2(2):64-71. Epub 2011 Nov 22.

PMID:
22511893
[PubMed]
Free PMC Article
14.

Fragile X and X-linked intellectual disability: four decades of discovery.

Lubs HA, Stevenson RE, Schwartz CE.

Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. Review.

PMID:
22482801
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

In-silico human genomics with GeneCards.

Stelzer G, Dalah I, Stein TI, Satanower Y, Rosen N, Nativ N, Oz-Levi D, Olender T, Belinky F, Bahir I, Krug H, Perco P, Mayer B, Kolker E, Safran M, Lancet D.

Hum Genomics. 2011 Oct;5(6):709-17.

PMID:
22155609
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

ST3GAL3 mutations impair the development of higher cognitive functions.

Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW.

Am J Hum Genet. 2011 Sep 9;89(3):407-14. doi: 10.1016/j.ajhg.2011.08.008.

PMID:
21907012
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H.

Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):348.

PMID:
21763484
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Why are autism spectrum conditions more prevalent in males?

Baron-Cohen S, Lombardo MV, Auyeung B, Ashwin E, Chakrabarti B, Knickmeyer R.

PLoS Biol. 2011 Jun;9(6):e1001081. doi: 10.1371/journal.pbio.1001081. Epub 2011 Jun 14. Review.

PMID:
21695109
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.

Lombard Z, Park C, Makova KD, Ramsay M.

Biol Direct. 2011 Jun 13;6:30. doi: 10.1186/1745-6150-6-30.

PMID:
21668950
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.

Iwase S, Xiang B, Ghosh S, Ren T, Lewis PW, Cochrane JC, Allis CD, Picketts DJ, Patel DJ, Li H, Shi Y.

Nat Struct Mol Biol. 2011 Jun 12;18(7):769-76. doi: 10.1038/nsmb.2062.

PMID:
21666679
[PubMed - indexed for MEDLINE]
Free PMC Article

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