Detalhe da pesquisa
1.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
2.
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.
Am J Med Genet A
; 167A(12): 3031-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333717
3.
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Am J Med Genet A
; 164A(1): 177-81, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259107
4.
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
BMC Med Genomics
; 12(1): 116, 2019 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31375103
5.
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Mol Genet Genomic Med
; 7(11): e00895, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493343
6.
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Eur J Hum Genet
; 16(6): 680-7, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18197200
7.
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Am J Med Genet A
; 146A(7): 917-24, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18327785
8.
Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.
Methods Mol Biol
; 1769: 353-361, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564835
9.
Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?
Fertil Steril
; 105(4): 1035-46, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26772789
10.
Characteristic pattern of chromosomal imbalances in posttransplantation lymphoproliferative disorders: correlation with histopathological subcategories and EBV status.
Transplantation
; 80(2): 176-84, 2005 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-16041261
11.
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
Prenat Diagn
; 29(11): 1085-8, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19777540
12.
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
Eur J Hum Genet
; 22(1): 136-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572024
13.
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Eur J Hum Genet
; 22(2): 289-92, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23674175
14.
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Eur J Hum Genet
; 22(4): 471-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24129437
15.
Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15;22) robertsonian translocation undergoing PGD.
Eur J Med Genet
; 55(4): 245-51, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22406402
16.
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.
Eur J Med Genet
; 55(11): 625-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22922660
17.
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
Eur J Hum Genet
; 20(5): 580-3, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258531
18.
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
Eur J Med Genet
; 51(6): 598-607, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18822396
19.
Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.
Am J Med Genet A
; 140(3): 212-21, 2006 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16411218