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Results: 1 to 20 of 124

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

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
9.

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
10.

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
11.

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
12.

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
13.

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
14.

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
15.

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
16.

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Shoubridge C, Gardner A, Schwartz CE, Hackett A, Field M, Gecz J.

Eur J Hum Genet. 2012 Dec;20(12):1311-4. doi: 10.1038/ejhg.2012.61. Epub 2012 Apr 11.

PMID:
22490986
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
18.

Coding exons function as tissue-specific enhancers of nearby genes.

Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N.

Genome Res. 2012 Jun;22(6):1059-68. doi: 10.1101/gr.133546.111. Epub 2012 Mar 22.

PMID:
22442009
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Seizures and X-linked intellectual disability.

Stevenson RE, Holden KR, Rogers RC, Schwartz CE.

Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8. Review.

PMID:
22377486
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A phenotype of early infancy predicts reactivity of the amygdala in male adults.

Schwartz CE, Kunwar PS, Greve DN, Kagan J, Snidman NC, Bloch RB.

Mol Psychiatry. 2012 Oct;17(10):1042-50. doi: 10.1038/mp.2011.96. Epub 2011 Sep 6.

PMID:
21894151
[PubMed - indexed for MEDLINE]
Free PMC Article

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