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Items: 1 to 20 of 7532

1.

Modifying the Autism Spectrum Rating Scale (6-18 years) to a Chinese Context: An Exploratory Factor Analysis.

Zhou H, Zhang L, Luo X, Wu L, Zou X, Xia K, Wang Y, Xu X, Ge X, Jiang YH, Fombonne E, Yan W, Wang Y.

Neurosci Bull. 2017 Feb 25. doi: 10.1007/s12264-017-0104-7. [Epub ahead of print]

PMID:
28238114
2.

Independent Maternal and Fetal Genetic Effects on Mid-gestational Circulating Levels of Environmental Pollutants.

Traglia M, Croen LA, Lyall K, Windham GC, Kharrazi M, DeLorenze GN, Torres AR, Weiss LA.

G3 (Bethesda). 2017 Feb 24. pii: g3.117.039784. doi: 10.1534/g3.117.039784. [Epub ahead of print]

PMID:
28235828
3.

Chinese Norms for the Autism Spectrum Rating Scale.

Zhou H, Zhang L, Zou X, Luo X, Xia K, Wu L, Wang Y, Xu X, Ge X, Jiang YH, Fombonne E, Yan W, Wang Y.

Neurosci Bull. 2017 Feb 24. doi: 10.1007/s12264-017-0105-6. [Epub ahead of print]

PMID:
28233147
4.

Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.

Yrigollen CM, Pacini L, Nobile V, Lozano R, Hagerman RJ, Bagni C, Tassone F.

J Genet Disord Genet Rep. 2016;5(3). pii: 139. doi: 10.4172/2327-5790.1000139.

PMID:
28232951
5.

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Curie A, Lesca G, Bussy G, Manificat S, Arnaud V, Gonzalez S, Revol O, Calender A, Gérard D, des Portes V.

Psychiatr Genet. 2017 Feb 22. doi: 10.1097/YPG.0000000000000165. [Epub ahead of print]

PMID:
28230711
6.

"Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD.

Reiff M, Bugos E, Giarelli E, Bernhardt BA, Spinner NB, Sankar PL, Mulchandani S.

J Autism Dev Disord. 2017 Feb 22. doi: 10.1007/s10803-017-3067-7. [Epub ahead of print]

PMID:
28229350
7.

A 7q31.33q32.1 microdeletion including <i>LRRC4</i> and <i>GRM8</i> is associated with severe intellectual disability and characteristics of autism.

Sangu N, Shimojima K, Takahashi Y, Ohashi T, Tohyama J, Yamamoto T.

Hum Genome Var. 2017 Feb 9;4:17001. doi: 10.1038/hgv.2017.1.

8.

A Drosophila model of Fragile X syndrome exhibits defects in phagocytosis by innate immune cells.

O'Connor RM, Stone EF, Wayne CR, Marcinkevicius EV, Ulgherait M, Delventhal R, Pantalia MM, Hill VM, Zhou CG, McAllister S, Chen A, Ziegenfuss JS, Grueber WB, Canman JC, Shirasu-Hiza MM.

J Cell Biol. 2017 Feb 21. pii: jcb.201607093. doi: 10.1083/jcb.201607093. [Epub ahead of print]

PMID:
28223318
9.

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S.

Transl Psychiatry. 2017 Feb 21;7(2):e1043. doi: 10.1038/tp.2017.27.

PMID:
28221363
10.

Enhanced expression of ADCY1 underlies aberrant neuronal signalling and behaviour in a syndromic autism model.

Sethna F, Feng W, Ding Q, Robison AJ, Feng Y, Wang H.

Nat Commun. 2017 Feb 20;8:14359. doi: 10.1038/ncomms14359.

PMID:
28218269
11.

Detection of Clostridium perfringens toxin genes in the gut microbiota of autistic children.

Finegold SM, Summanen PH, Downes J, Corbett K, Komoriya T.

Anaerobe. 2017 Feb 17. pii: S1075-9964(17)30029-X. doi: 10.1016/j.anaerobe.2017.02.008. [Epub ahead of print]

PMID:
28215985
12.

Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.

Sepp R, Hategan L, Bácsi A, Cseklye J, Környei L, Borbás J, Széll M, Forster T, Nagy I, Hegedűs Z.

Am J Med Genet A. 2017 Mar;173(3):784-789. doi: 10.1002/ajmg.a.38084.

PMID:
28211989
13.

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H.

Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083.

PMID:
28211972
14.

Hypothalamic transcriptomic alterations in male and female California mice (Peromyscus californicus) developmentally exposed to bisphenol A or ethinyl estradiol.

Johnson SA, Spollen WG, Manshack LK, Bivens NJ, Givan SA, Rosenfeld CS.

Physiol Rep. 2017 Feb;5(3). pii: e13133. doi: 10.14814/phy2.13133.

15.

Association Between the Probability of Autism Spectrum Disorder and Normative Sex-Related Phenotypic Diversity in Brain Structure.

Ecker C, Andrews DS, Gudbrandsen CM, Marquand AF, Ginestet CE, Daly EM, Murphy CM, Lai MC, Lombardo MV, Ruigrok AN, Bullmore ET, Suckling J, Williams SC, Baron-Cohen S, Craig MC, Murphy DG; Medical Research Council Autism Imaging Multicentre Study (MRC AIMS) Consortium..

JAMA Psychiatry. 2017 Feb 8. doi: 10.1001/jamapsychiatry.2016.3990. [Epub ahead of print]

PMID:
28196230
16.

Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.

Nguyen KV, Nyhan WL.

Neurosci Lett. 2017 Feb 10;643:52-58. doi: 10.1016/j.neulet.2017.02.016. [Epub ahead of print]

PMID:
28192196
17.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ.

Nat Genet. 2017 Feb 13. doi: 10.1038/ng.3789. [Epub ahead of print]

PMID:
28191890
18.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Feb 13. doi: 10.1038/ng.3792. [Epub ahead of print]

PMID:
28191889
19.

Quantitative Nucleotide Level Analysis of Regulation of Translation in Response to Depolarization of Cultured Neural Cells.

Dalal JS, Yang C, Sapkota D, Lake AM, O'Brien DR, Dougherty JD.

Front Mol Neurosci. 2017 Jan 27;10:9. doi: 10.3389/fnmol.2017.00009.

20.

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE.

Am J Med Genet A. 2017 Feb 12. doi: 10.1002/ajmg.a.38161. [Epub ahead of print]

PMID:
28190301
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