Detalhe da pesquisa
1.
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Am J Hum Genet
; 105(5): 947-958, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668704
2.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190612
3.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Am J Hum Genet
; 96(5): 784-96, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937446
4.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21881559
5.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet
; 23(22): 6069-80, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24939913
6.
Copy number variations and cognitive phenotypes in unselected populations.
JAMA
; 313(20): 2044-54, 2015 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26010633
7.
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
Hum Mutat
; 35(3): 377-83, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357492
8.
Monozygotic twins with 17q21.31 microdeletion syndrome.
Twin Res Hum Genet
; 17(5): 405-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24909117
9.
A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.
Am J Med Genet A
; 161A(4): 865-70, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495096
10.
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
11.
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
NPJ Genom Med
; 7(1): 38, 2022 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35715439
12.
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
NPJ Genom Med
; 8(1): 9, 2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225732
13.
Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.
Eur J Hum Genet
; 15(2): 162-72, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17119536
14.
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants.
Per Med
; 13(4): 303-314, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749813
15.
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Biol Psychiatry
; 80(2): 129-139, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26742926
16.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA Psychiatry
; 73(1): 20-30, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26629640
17.
MAPH: from gels to microarrays.
Eur J Med Genet
; 48(3): 241-9, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16179220
18.
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
PLoS One
; 8(3): e58048, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23554873
19.
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.
Eur J Med Genet
; 54(2): 136-43, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21112420
20.
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss.
Eur J Med Genet
; 52(1): 71-4, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18983945