Detalhe da pesquisa
1.
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Am J Hum Genet
; 95(5): 565-78, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439725
2.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Am J Hum Genet
; 93(2): 197-210, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810381
3.
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Genet Med
; 18(4): 341-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26066539
4.
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Am J Med Genet A
; 170(11): 2943-2955, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27410714
5.
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
PLoS Genet
; 9(9): e1003797, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086149
6.
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
Nature
; 455(7215): 912-8, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18923513
7.
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Am J Hum Genet
; 87(6): 857-65, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109226
8.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
J Med Genet
; 49(10): 660-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054248
9.
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
BMC Med Genet
; 13: 71, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22883432
10.
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Hum Mol Genet
; 18(12): 2188-203, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324899
11.
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
Am J Med Genet A
; 155A(7): 1574-80, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21638761
12.
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
Am J Med Genet A
; 155A(9): 2071-7, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21834044
13.
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
Am J Med Genet A
; 155A(6): 1442-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21567932
14.
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
Ann Neurol
; 66(6): 771-82, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20035514
15.
The MECP2 duplication syndrome.
Am J Med Genet A
; 152A(5): 1079-88, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425814
16.
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
Eur J Hum Genet
; 11(7): 527-34, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12825074
17.
The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
Autism Res
; 6(1): 42-50, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169761
18.
Replicative mechanisms for CNV formation are error prone.
Nat Genet
; 45(11): 1319-26, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24056715
19.
Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.
Sci Transl Med
; 4(163): 163ra158, 2012 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23220634
20.
Bilateral in utero cerebellar infarction.
J Child Neurol
; 26(7): 895-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266324