Detalhe da pesquisa
1.
FHL1 is a major host factor for chikungunya virus infection.
Nature
; 574(7777): 259-263, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31554973
2.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
3.
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Am J Med Genet A
; 182(3): 536-542, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833209
4.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(2): 155-66, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561519
5.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
6.
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Prenat Diagn
; 40(2): 276-281, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736083
7.
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
Am J Med Genet A
; 164A(2): 522-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311531
8.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(4): 609, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834187
9.
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Am J Hum Genet
; 85(3): 338-53, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19716112
10.
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Am J Med Genet A
; 158A(2): 333-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22247066
11.
FHL1 is a key player of chikungunya virus tropism and pathogenesis.
C R Biol
; 343(4): 79-89, 2021 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988325
12.
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Gene
; 753: 144816, 2020 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32473250
13.
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
Genomics Insights
; 12: 1178631019839010, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31043788
14.
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Mol Genet Genomic Med
; 7(12): e1006, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628733
15.
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
Am J Med Genet A
; 161A(6): 1505-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613186
16.
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
J Med Genet
; 48(11): e1, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21330571
17.
Cerebral dysgenesis does not exclude OFD I syndrome.
Am J Med Genet A
; 155A(2): 455-7, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271673
18.
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Eur J Hum Genet
; 24(6): 838-43, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395558
19.
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
Eur J Heart Fail
; 15(3): 267-76, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23152444
20.
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
J Neuropathol Exp Neurol
; 72(9): 833-45, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23965743