Detalhe da pesquisa
1.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
2.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346496
3.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
J Med Genet
; 53(8): 511-22, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989088
4.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Am J Hum Genet
; 90(3): 565-72, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405089
5.
RAD21 mutations cause a human cohesinopathy.
Am J Hum Genet
; 90(6): 1014-27, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22633399
6.
Menkes disease with discordant phenotype in female monozygotic twins.
Am J Med Genet A
; 167A(11): 2826-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26239182
7.
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
BMC Med Genet
; 15: 127, 2014 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25433523
8.
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Hum Mutat
; 31(6): 722-33, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513142
9.
Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
Am J Med Genet A
; 152A(6): 1484-7, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503324
10.
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.
Clin Dysmorphol
; 27(2): 27-30, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315086
11.
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Eur J Hum Genet
; 25(8): 935-945, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28635951
12.
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Mol Cytogenet
; 8: 72, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26421060
13.
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
Eur J Hum Genet
; 19(5): 507-12, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21326285
14.
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Nucleus
; 1(4): 354-66, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21327084
15.
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Eur J Hum Genet
; 17(8): 1010-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19172993
16.
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Eur J Hum Genet
; 17(10): 1207-15, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19277062
17.
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.
Genomic Med
; 1(1-2): 65-73, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18923930
18.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Artigo
em Inglês
| ARCA | ID: arc-45518
19.
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.
Am J Med Genet A
; 140(6): 604-10, 2006 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16470742
20.
Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature.
Prenat Diagn
; 25(10): 954-9, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16088867