Detalhe da pesquisa
1.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet
; 94(5): 677-94, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24768552
2.
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
Am J Med Genet A
; 173(1): 274-279, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27774767
3.
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Hum Mol Genet
; 23(12): 3316-26, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24474471
4.
Functional impact of global rare copy number variation in autism spectrum disorders.
Nature
; 466(7304): 368-72, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20531469
5.
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Nat Genet
; 38(9): 1038-42, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906162
6.
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Nat Genet
; 38(9): 999-1001, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906164
7.
A genome-wide scan for common alleles affecting risk for autism.
Hum Mol Genet
; 19(20): 4072-82, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20663923
8.
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Hum Genet
; 131(4): 565-79, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21996756
9.
Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
Mol Genet Metab
; 106(3): 351-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22607940
10.
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
Hum Mutat
; 32(12): 1417-26, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21901792
11.
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.
Am J Med Genet A
; 164A(11): 2958-60, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25124102
12.
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Eur J Hum Genet
; 16(3): 395-400, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18159213
13.
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.
Nucleic Acids Res
; 33(11): 3455-64, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15961730
14.
HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationships.
PLoS One
; 7(11): e49438, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23189146
15.
Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotype.
PLoS One
; 6(6): e20607, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21694761
16.
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Eur J Hum Genet
; 19(5): 534-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21267005
17.
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Nat Genet
; 40(3): 322-8, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18278044
18.
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.
Genomic Med
; 1(1-2): 35-45, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18923927
19.
Characterization of a recurrent 15q24 microdeletion syndrome.
Hum Mol Genet
; 16(5): 567-72, 2007 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17360722
20.
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.
Am J Med Genet B Neuropsychiatr Genet
; 141B(6): 584-90, 2006 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16823807