Detalhe da pesquisa
1.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
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.
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
Hum Genet
; 134(11-12): 1163-82, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26337422
4.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Hum Mol Genet
; 21(15): 3345-55, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543972
5.
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Am J Med Genet A
; 164A(10): 2607-12, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091507
6.
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
7.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290657
8.
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Hum Genet
; 131(1): 145-56, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21800092
9.
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Genet Med
; 12(10): 641-7, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20808231
10.
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Genome Med
; 11(1): 25, 2019 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31014393
11.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Genome Med
; 9(1): 83, 2017 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934986
12.
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
Am J Med Genet A
; 155A(5): 1196-201, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21480483
13.
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Eur J Hum Genet
; 23(1): 54-60, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24736736
14.
New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.
Am J Med Genet
; 109(4): 249-60, 2002 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11992478
15.
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Eur J Hum Genet
; 22(9): 1071-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24424125
16.
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Eur J Hum Genet
; 20(12): 1240-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22617343
17.
MECP2 duplications in six patients with complex sex chromosome rearrangements.
Eur J Hum Genet
; 19(4): 409-15, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21119712
18.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nat Genet
; 40(12): 1466-71, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19029900