Detalles de la búsqueda
1.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35178824
2.
Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes
J Psychiatry Neurosci
; 44(5): 350-359, 2019 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31094488
3.
Evolution of Robustness to Protein Mistranslation by Accelerated Protein Turnover.
PLoS Biol
; 13(11): e1002291, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26544557
4.
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Nature
; 475(7354): 101-5, 2011 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-21642962
5.
Reversion of a fungal genetic code alteration links proteome instability with genomic and phenotypic diversification.
Proc Natl Acad Sci U S A
; 110(27): 11079-84, 2013 Jul 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-23776239
6.
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Am J Hum Genet
; 91(1): 5-14, 2012 Jul 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-22703880
7.
Microarray and deep sequencing cross-platform analysis of the mirRNome and isomiR variation in response to epidermal growth factor.
BMC Genomics
; 14: 371, 2013 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23724959
8.
Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder.
J Psychiatry Neurosci
; 37(4): 273-81, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22433450
9.
Multiple platform assessment of the EGF dependent transcriptome by microarray and deep tag sequencing analysis.
BMC Genomics
; 12: 326, 2011 Jun 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-21699700
10.
Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four European populations.
Am J Med Genet B Neuropsychiatr Genet
; 156B(5): 600-12, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21595008
11.
Low exchangeability of selenocysteine, the 21st amino acid, in vertebrate proteins.
Mol Biol Evol
; 26(9): 2031-40, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19487332
12.
Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders.
Hum Mol Genet
; 17(9): 1234-44, 2008 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18203754
13.
Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.
J Pineal Res
; 49(1): 35-44, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20459461
14.
Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations.
Am J Med Genet B Neuropsychiatr Genet
; 153B(5): 1008-15, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20213726
15.
Nucleotide variation in central nervous system genes among male suicide attempters.
Am J Med Genet B Neuropsychiatr Genet
; 153B(1): 208-13, 2010 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-19455598
16.
Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.
Neurogenetics
; 10(3): 191-8, 2009 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-19153782
17.
Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate.
Mutat Res
; 666(1-2): 44-9, 2009 Jun 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-19457516
18.
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Am J Med Genet B Neuropsychiatr Genet
; 150B(6): 808-16, 2009 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-19086053
19.
Adaptive Mistranslation Accelerates the Evolution of Fluconazole Resistance and Induces Major Genomic and Gene Expression Alterations in Candida albicans.
mSphere
; 2(4)2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28808688
20.
The Fungus Candida albicans Tolerates Ambiguity at Multiple Codons.
Front Microbiol
; 7: 401, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27065968