Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
J Med Genet
; 60(1): 48-56, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740919
2.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
3.
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Neuropediatrics
; 53(5): 309-320, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605965
4.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Prenat Diagn
; 42(7): 901-910, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35574990
5.
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Brain
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637313
6.
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Mol Cell Probes
; 29(5): 308-14, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25979592
7.
High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.
Mol Cell Probes
; 27(2): 103-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23142374
8.
Identification of novel genes including NAV2 associated with isolated tall stature.
Front Endocrinol (Lausanne)
; 14: 1258313, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152138
9.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
; 63(10): 104004, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32688057
10.
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
Eur J Cardiothorac Surg
; 31(6): 970-5, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17418587
11.
Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.
Hum Mutat
; 19(5): 560-9, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11968089
12.
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.
J Am Coll Cardiol
; 73(17): 2237-2239, 2019 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31047013
13.
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
Eur J Hum Genet
; 19(5): 520-4, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21248741
14.
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
PLoS One
; 6(12): e28872, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22194935
15.
Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.
Eur J Heart Fail
; 13(11): 1185-92, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750094
16.
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
Clin Chem
; 54(4): 682-7, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18258667
17.
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
PLoS One
; 2(12): e1362, 2007 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-18159245
18.
A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes.
Clin Res Cardiol
; 100(7): 627-8, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21409595
19.
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
J Mol Cell Cardiol
; 35(6): 623-36, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12788380