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Results: 1 to 20 of 129

1.

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms.

Srivastava AK, Schwartz CE.

Neurosci Biobehav Rev. 2014 Oct;46P2:161-174. doi: 10.1016/j.neubiorev.2014.02.015. Epub 2014 Apr 4. Review.

PMID:
24709068
[PubMed - as supplied by publisher]
Free PMC Article
2.

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA.

Am J Hum Genet. 2014 Mar 6;94(3):470-8. doi: 10.1016/j.ajhg.2014.02.004.

PMID:
24607389
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Malformations among the X-linked intellectual disability syndromes.

Stevenson RE, Schwartz CE, Rogers RC.

Am J Med Genet A. 2013 Nov;161A(11):2741-9. doi: 10.1002/ajmg.a.36179. Epub 2013 Sep 24. Review.

PMID:
24166814
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

MED12 related disorders.

Graham JM Jr, Schwartz CE.

Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Review.

PMID:
24123922
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Disruption of phase synchronization between blood pressure and muscle sympathetic nerve activity in postural vasovagal syncope.

Schwartz CE, Lambert E, Medow MS, Stewart JM.

Am J Physiol Heart Circ Physiol. 2013 Oct 15;305(8):H1238-45. doi: 10.1152/ajpheart.00415.2013. Epub 2013 Aug 9.

PMID:
23934851
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Decreased tryptophan metabolism in patients with autism spectrum disorders.

Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Bochner BR, Stevenson RE, Schwartz CE.

Mol Autism. 2013 Jun 3;4(1):16. doi: 10.1186/2040-2392-4-16.

PMID:
23731516
[PubMed]
Free PMC Article
7.

Spontaneous fluctuation indices of the cardiovagal baroreflex accurately measure the baroreflex sensitivity at the operating point during upright tilt.

Schwartz CE, Medow MS, Messer Z, Stewart JM.

Am J Physiol Regul Integr Comp Physiol. 2013 Jun 15;304(12):R1107-13. doi: 10.1152/ajpregu.00559.2012. Epub 2013 Apr 10.

PMID:
23576616
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Middle cerebral O₂ delivery during the modified Oxford maneuver increases with sodium nitroprusside and decreases during phenylephrine.

Stewart JM, Medow MS, DelPozzi A, Messer ZR, Terilli C, Schwartz CE.

Am J Physiol Heart Circ Physiol. 2013 Jun 1;304(11):H1576-83. doi: 10.1152/ajpheart.00114.2013. Epub 2013 Apr 5.

PMID:
23564308
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Fish oil and neurovascular reactivity to mental stress in humans.

Carter JR, Schwartz CE, Yang H, Joyner MJ.

Am J Physiol Regul Integr Comp Physiol. 2013 Apr 1;304(7):R523-30. doi: 10.1152/ajpregu.00031.2013. Epub 2013 Feb 13.

PMID:
23408034
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE, Weksberg R.

BMC Med Genomics. 2013 Jan 28;6:1. doi: 10.1186/1755-8794-6-1.

PMID:
23356856
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.

Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR.

Hum Mol Genet. 2013 Apr 15;22(8):1516-24. doi: 10.1093/hmg/ddt002. Epub 2013 Jan 10.

PMID:
23307923
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The arterial baroreflex resets with orthostasis.

Schwartz CE, Stewart JM.

Front Physiol. 2012 Dec 7;3:461. doi: 10.3389/fphys.2012.00461. eCollection 2012.

PMID:
23233840
[PubMed]
Free PMC Article
13.

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.

Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG.

Proc Natl Acad Sci U S A. 2012 Nov 27;109(48):19763-8. doi: 10.1073/pnas.1121120109. Epub 2012 Oct 22.

PMID:
23091001
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L.

Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11.

PMID:
23063529
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N.

Hum Mol Genet. 2012 Nov 15;21(22):4930-8. doi: 10.1093/hmg/dds336. Epub 2012 Aug 21.

PMID:
22914741
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE.

Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15.

PMID:
22892527
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
18.

Fish oil and neurovascular control in humans.

Carter JR, Schwartz CE, Yang H, Joyner MJ.

Am J Physiol Heart Circ Physiol. 2012 Aug 15;303(4):H450-6. doi: 10.1152/ajpheart.00353.2012. Epub 2012 Jun 15.

PMID:
22707560
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM.

J Med Genet. 2012 May;49(5):332-40. doi: 10.1136/jmedgenet-2011-100575.

PMID:
22581972
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families.

Hettinger JA, Liu X, Hudson ML, Lee A, Cohen IL, Michaelis RC, Schwartz CE, Lewis SM, Holden JJ.

Behav Brain Funct. 2012 May 4;8:19. doi: 10.1186/1744-9081-8-19.

PMID:
22559203
[PubMed - indexed for MEDLINE]
Free PMC Article
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