Detalhe da pesquisa
1.
New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation.
Pharmacogenomics J
; 18(3): 413-421, 2018 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29160301
2.
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Neuropediatrics
; 49(2): 150-153, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29284168
3.
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Hum Genomics
; 10(1): 24, 2016 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27353043
4.
Copy number variants and therapeutic response to antidepressant medication in major depressive disorder.
Pharmacogenomics J
; 14(4): 395-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24445990
5.
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Nat Genet
; 27(1): 59-63, 2001 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11137999
6.
Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.
Pharmacogenomics J
; 12(1): 68-77, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20877300
7.
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP.
Nat Cell Biol
; 3(10): 927-32, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11584276
8.
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.
Transl Psychiatry
; 7(2): e1039, 2017 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28221368
9.
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Hum Mutat
; 18(2): 101-8, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11462234
10.
Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes.
Am J Med Genet
; 74(2): 150-3, 1997 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-9129713
11.
Dihydropyridine-like effects of amiodarone and desethylamiodarone on thyrotropin secretion and intracellular calcium concentration in rat pituitary.
Eur J Endocrinol
; 133(4): 489-98, 1995 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-7581975
12.
Association of the connexin36 gene with juvenile myoclonic epilepsy.
J Med Genet
; 41(7): e93, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15235036
13.
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.
Am J Hum Genet
; 65(5): 1396-400, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10521305
14.
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.
Genomics
; 53(3): 369-76, 1998 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-9799604
15.
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.
Cytogenet Cell Genet
; 83(3-4): 218-20, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-10072581
16.
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21.
Hum Genet
; 107(2): 127-31, 2000 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11030409
17.
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1.
Hum Genet
; 102(3): 282-8, 1998 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-9544839
18.
A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)
Neurobiol Dis
; 1(1-2): 95-9, 1994 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-9216991
19.
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.
Hum Mol Genet
; 6(3): 473-7, 1997 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-9147652
20.
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).
Hum Genet
; 105(5): 489-95, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10598817