Detalhe da pesquisa
1.
MECP2 duplication syndrome in a patient from Cameroon.
Am J Med Genet A
; 182(4): 619-622, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052928
2.
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
J Hum Genet
; 63(7): 847-850, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29717186
3.
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.
Int J Mol Sci
; 18(3)2017 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28287439
4.
Assessment of copy number variations in 120 patients with Poland syndrome.
BMC Med Genet
; 17(1): 89, 2016 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884122
5.
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.
Stem Cells
; 33(6): 2077-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25694335
6.
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
Am J Med Genet A
; 167A(3): 537-44, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655429
7.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044680
8.
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
BMC Med Genet
; 15: 63, 2014 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885342
9.
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
Am J Med Genet A
; 164A(5): 1254-61, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478242
10.
Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.
Am J Med Genet A
; 164A(3): 801-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591035
11.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779178
12.
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
Am J Hum Genet
; 87(2): 209-18, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20673865
13.
Genomic analysis of cattle rob(1;29).
Chromosome Res
; 20(7): 815-23, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23053571
14.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Am J Med Genet B Neuropsychiatr Genet
; 162B(4): 388-403, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23533028
15.
Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential.
J Cell Mol Med
; 16(3): 456-67, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21535399
16.
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Hum Mol Genet
; 19(10): 1967-73, 2010 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179077
17.
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
BMC Med Genet
; 13: 93, 2012 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23035971
18.
Familial Poland anomaly revisited.
Am J Med Genet A
; 158A(1): 140-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22110015
19.
Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease.
Alzheimer Dis Assoc Disord
; 31(1): 82-85, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079535
20.
Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells.
J Appl Toxicol
; 32(3): 233-43, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22223356