Detalhe da pesquisa
1.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Hum Genet
; 140(6): 885-896, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417013
2.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(6): 790-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637653
3.
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.
Am J Med Genet A
; 164A(3): 774-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357529
4.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(12): 2110-2112, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447178
5.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Am J Med Genet C Semin Med Genet
; 163C(2): 92-105, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606591
6.
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Am J Med Genet A
; 161A(12): 3063-71, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24039113
7.
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nat Genet
; 30(4): 436-40, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11889465
8.
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
Turk J Pediatr
; 52(5): 525-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21434539
9.
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Hum Mutat
; 30(6): 934-45, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19367636
10.
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 164A(1): 282-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24214682
11.
CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Eur J Hum Genet
; 27(4): 663-668, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683921
12.
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 146A(4): 464-7, 2008 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18203194
13.
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Hum Mutat
; 28(2): 196-202, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17041910
14.
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Hum Mutat
; 28(2): 207-8, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17221867
15.
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].
Am J Med Genet
; 112(1): 6-11, 2002 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12239712
16.
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.
Am J Med Genet
; 112(4): 400-4, 2002 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12376945
17.
In-frame deletion in MECP2 causes mild nonspecific mental retardation.
Am J Med Genet
; 107(1): 81-3, 2002 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11807877
18.
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
Am J Hum Genet
; 74(3): 552-7, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14963808