Detalhe da pesquisa
1.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Mol Psychiatry
; 22(6): 836-849, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240531
2.
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Mol Psychiatry
; 22(4): 625-633, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27166760
3.
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Clin Genet
; 91(4): 640-646, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27874174
4.
Psychiatric gene discoveries shape evidence on ADHD's biology.
Mol Psychiatry
; 21(9): 1202-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26573769
5.
The phenotypic manifestations of rare genic CNVs in autism spectrum disorder.
Mol Psychiatry
; 20(11): 1366-72, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25421404
6.
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Clin Genet
; 88(3): 224-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131214
7.
Genome-wide association analysis of copy number variation in recurrent depressive disorder.
Mol Psychiatry
; 18(2): 183-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22042228
8.
Autism spectrum disorder in the genetics clinic: a review.
Clin Genet
; 83(5): 399-407, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23425232
9.
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nat Genet
; 14(3): 357-60, 1996 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8896572
10.
Physical mapping of the holoprosencephaly critical region on chromosome 7q36.
Nat Genet
; 3(3): 247-51, 1993 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8485580
11.
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Nat Genet
; 26(1): 71-5, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10973252
12.
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Nat Genet
; 22(2): 159-63, 1999 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10369257
13.
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Nat Genet
; 29(3): 321-5, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11685205
14.
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Nat Genet
; 14(3): 353-6, 1996 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8896571
15.
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.
Nat Genet
; 28(3): 220-1, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11431691
16.
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Nat Genet
; 20(2): 171-4, 1998 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9771710
17.
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Nat Genet
; 29(2): 166-73, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11586298
18.
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
Nat Genet
; 16(1): 68-73, 1997 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-9140397
19.
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Clin Genet
; 80(5): 435-43, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21114665
20.
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines.
Genomics
; 95(2): 73-83, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20005943