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1.
Model system identification of novel congenital heart disease gene candidates: focus on RPL13.
Hum Mol Genet
; 28(23): 3954-3969, 2019 12 01.
Article
in English
| MEDLINE | ID: mdl-31625562
2.
Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.
Hum Mol Genet
; 26(15): 2874-2881, 2017 08 01.
Article
in English
| MEDLINE | ID: mdl-28472305
3.
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.
Hum Mol Genet
; 23(21): 5793-804, 2014 Nov 01.
Article
in English
| MEDLINE | ID: mdl-24925317
4.
Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome.
Hum Genet
; 134(9): 1003-11, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26164125
5.
Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome.
Circ Genom Precis Med
; 16(1): e003761, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36580305
6.
Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways.
J Cardiovasc Dev Dis
; 10(9)2023 Sep 12.
Article
in English
| MEDLINE | ID: mdl-37754822
7.
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.
Elife
; 122023 07 05.
Article
in English
| MEDLINE | ID: mdl-37404133
8.
Whole Genome Sequencing in Hypoplastic Left Heart Syndrome.
J Cardiovasc Dev Dis
; 9(4)2022 Apr 15.
Article
in English
| MEDLINE | ID: mdl-35448093
9.
CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.
Circ Genom Precis Med
; 15(2): e003523, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35133174
10.
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.
Circ Genom Precis Med
; 14(1): e003126, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33325730
11.
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.
Elife
; 92020 10 02.
Article
in English
| MEDLINE | ID: mdl-33006316
12.
Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations.
Am Heart J
; 158(5): 799-805, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19853701
13.
Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection.
Circ Genom Precis Med
; 12(4): e002437, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30888838
14.
Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
Am Heart J
; 155(6): 1128-34, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-18513529
15.
Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.
Circ Cardiovasc Genet
; 8(4): 564-71, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26085007
16.
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
Circ Cardiovasc Genet
; 4(6): 585-94, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21965549
17.
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
Circ Heart Fail
; 2(4): 325-33, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19808356
18.
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
Mayo Clin Proc
; 83(6): 630-8, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-18533079
19.
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
Biochem Biophys Res Commun
; 351(4): 896-902, 2006 Dec 29.
Article
in English
| MEDLINE | ID: mdl-17097056
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