Search details
1.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-25188300
2.
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.
Am J Med Genet A
; 167A(12): 3019-30, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26334118
3.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PLoS Genet
; 8(2): e1002521, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22346768
4.
Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.
J Pineal Res
; 54(1): 46-57, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22775292
5.
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
J Pineal Res
; 51(4): 394-9, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21615493
6.
LMT USV Toolbox, a Novel Methodological Approach to Place Mouse Ultrasonic Vocalizations in Their Behavioral Contexts-A Study in Female and Male C57BL/6J Mice and in Shank3 Mutant Females.
Front Behav Neurosci
; 15: 735920, 2021.
Article
in English
| MEDLINE | ID: mdl-34720899
7.
Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders.
Transl Psychiatry
; 11(1): 23, 2021 01 07.
Article
in English
| MEDLINE | ID: mdl-33414449
8.
A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation.
Sci Rep
; 10(1): 13315, 2020 08 07.
Article
in English
| MEDLINE | ID: mdl-32769989
9.
Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations.
Sci Rep
; 9(1): 94, 2019 01 14.
Article
in English
| MEDLINE | ID: mdl-30643170
10.
Both rare and common genetic variants contribute to autism in the Faroe Islands.
NPJ Genom Med
; 4: 1, 2019.
Article
in English
| MEDLINE | ID: mdl-30675382
11.
Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders.
Sci Rep
; 7(1): 2096, 2017 05 18.
Article
in English
| MEDLINE | ID: mdl-28522826
12.
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.
PLoS One
; 9(3): e88600, 2014.
Article
in English
| MEDLINE | ID: mdl-24594579
13.
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
PLoS One
; 6(3): e17289, 2011 Mar 04.
Article
in English
| MEDLINE | ID: mdl-21394203
14.
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
PLoS One
; 5(7): e11495, 2010 Jul 15.
Article
in English
| MEDLINE | ID: mdl-20657642
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