Detalhe da pesquisa
1.
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Am J Med Genet A
; 188(6): 1676-1687, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35166435
2.
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Hum Mol Genet
; 26(6): 1070-1077, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158657
3.
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Am J Med Genet A
; 176(6): 1405-1410, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663639
4.
Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.
PLoS Genet
; 11(6): e1005248, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26057447
5.
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Prenat Diagn
; 37(11): 1146-1154, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28921562
6.
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
Hereditas
; 154: 16, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29270100
7.
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
J Med Genet
; 52(3): 195-202, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612909
8.
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
BMC Med Genet
; 16: 95, 2015 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26467218
9.
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Eur J Hum Genet
; 32(3): 333-341, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277488
10.
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
Sci Rep
; 13(1): 12856, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553382
11.
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
Genome Biol
; 21(1): 290, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33261648
12.
MHC class II polymorphism is associated with a canine SLE-related disease complex.
Immunogenetics
; 61(8): 557-64, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19636550
13.
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Eur J Med Genet
; 62(6): 103526, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125677
14.
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Sci Rep
; 9(1): 10730, 2019 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341187
15.
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Eur J Hum Genet
; 27(3): 432-441, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459414
16.
Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.
PLoS One
; 8(9): e75639, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086599
17.
DLA class II alleles are associated with risk for canine symmetrical lupoid onychodystrophy [corrected](SLO).
PLoS One
; 5(8): e12332, 2010 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20808798
18.
Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.
Nat Genet
; 42(3): 250-4, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101241