255 related articles for article (PubMed ID: 27990414)
1. What Is New in Genetics of Congenital Heart Defects?
Digilio MC; Marino B
Front Pediatr; 2016; 4():120. PubMed ID: 27990414
[TBL] [Abstract][Full Text] [Related]
2. Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects.
Hussein IR; Bader RS; Chaudhary AG; Bassiouni R; Alquaiti M; Ashgan F; Schulten HJ; Al Qahtani MH
Pediatr Cardiol; 2018 Jun; 39(5):924-940. PubMed ID: 29541814
[TBL] [Abstract][Full Text] [Related]
3. Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.
Calcagni G; Unolt M; Digilio MC; Baban A; Versacci P; Tartaglia M; Baldini A; Marino B
Expert Rev Mol Diagn; 2017 Sep; 17(9):861-870. PubMed ID: 28745539
[TBL] [Abstract][Full Text] [Related]
4. Human Genetics of Ventricular Septal Defect.
Perrot A; Rickert-Sperling S
Adv Exp Med Biol; 2024; 1441():505-534. PubMed ID: 38884729
[TBL] [Abstract][Full Text] [Related]
5. Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care.
Helm BM; Freeze SL
Front Cardiovasc Med; 2016; 3():19. PubMed ID: 27379245
[TBL] [Abstract][Full Text] [Related]
6. Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.
Zodanu GKE; Oszlánczi M; Havasi K; Kalapos A; Rácz G; Katona M; Ujfalusi A; Nagy O; Széll M; Nagy D
Front Genet; 2021; 12():635480. PubMed ID: 33995479
[TBL] [Abstract][Full Text] [Related]
7. Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.
Piacentini G; Digilio MC; Sarkozy A; Placidi S; Dallapiccola B; Marino B
J Cardiovasc Med (Hagerstown); 2007 Jan; 8(1):7-11. PubMed ID: 17255809
[TBL] [Abstract][Full Text] [Related]
8. Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.
Lin S; Shi S; Lu J; He Z; Li D; Huang L; Huang X; Zhou Y; Luo Y
Mol Cytogenet; 2024 Jan; 17(1):2. PubMed ID: 38178226
[TBL] [Abstract][Full Text] [Related]
9. Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
Nagy O; Szakszon K; Biró BO; Mogyorósy G; Nagy D; Nagy B; Balogh I; Ujfalusi A
J Biotechnol; 2019 Jun; 299():86-95. PubMed ID: 31054299
[TBL] [Abstract][Full Text] [Related]
10. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Mlynarski EE; Sheridan MB; Xie M; Guo T; Racedo SE; McDonald-McGinn DM; Gai X; Chow EW; Vorstman J; Swillen A; Devriendt K; Breckpot J; Digilio MC; Marino B; Dallapiccola B; Philip N; Simon TJ; Roberts AE; Piotrowicz M; Bearden CE; Eliez S; Gothelf D; Coleman K; Kates WR; Devoto M; Zackai E; Heine-Suñer D; Shaikh TH; Bassett AS; Goldmuntz E; Morrow BE; Emanuel BS;
Am J Hum Genet; 2015 May; 96(5):753-64. PubMed ID: 25892112
[TBL] [Abstract][Full Text] [Related]
11. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE; Xie M; Taylor D; Sheridan MB; Guo T; Racedo SE; McDonald-McGinn DM; Chow EW; Vorstman J; Swillen A; Devriendt K; Breckpot J; Digilio MC; Marino B; Dallapiccola B; Philip N; Simon TJ; Roberts AE; Piotrowicz M; Bearden CE; Eliez S; Gothelf D; Coleman K; Kates WR; Devoto M; Zackai E; Heine-Suñer D; Goldmuntz E; Bassett AS; Morrow BE; Emanuel BS;
Hum Genet; 2016 Mar; 135(3):273-85. PubMed ID: 26742502
[TBL] [Abstract][Full Text] [Related]
12. Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
Digilio MC; Bernardini L; Consoli F; Lepri FR; Giuffrida MG; Baban A; Surace C; Ferese R; Angioni A; Novelli A; Marino B; De Luca A; Dallapiccola B
Eur J Med Genet; 2013 Mar; 56(3):144-9. PubMed ID: 23270675
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort.
Zamariolli M; Dantas AG; Nunes N; Moysés-Oliveira M; Sgardioli IC; Soares DCQ; Gil-Da-Silva-Lopes VL; Kim CA; Melaragno MI
Am J Med Genet A; 2023 May; 191(5):1273-1281. PubMed ID: 36751694
[TBL] [Abstract][Full Text] [Related]
14. Copy number variant analysis for syndromic congenital heart disease in the Chinese population.
Li P; Chen W; Li M; Zhao Z; Feng Z; Gao H; Suo M; Xu Z; Tian G; Wu F; Wei S; Huang G
Hum Genomics; 2022 Oct; 16(1):51. PubMed ID: 36316717
[TBL] [Abstract][Full Text] [Related]
15. Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities.
Zhang S; Wang J; Pei Y; Han J; Xiong X; Yan Y; Zhang J; Liu Y; Su F; Xu J; Wu Q
Diagnostics (Basel); 2023 Apr; 13(8):. PubMed ID: 37189594
[TBL] [Abstract][Full Text] [Related]
16. Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Monteiro RAC; de Freitas ML; Vianna GS; de Oliveira VT; Pietra RX; Ferreira LCA; Rocha PPO; da S Gonçalves M; da C César G; de S Lima J; Medeiros PFV; Mazzeu JF; Jehee FS
Mol Syndromol; 2017 Aug; 8(5):227-235. PubMed ID: 28878606
[TBL] [Abstract][Full Text] [Related]
17. A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects.
Bolunduț AC; Nazarie F; Lazea C; Șufană C; Miclea D; Lazăr C; Mihu CM
Genes (Basel); 2024 Feb; 15(2):. PubMed ID: 38397197
[TBL] [Abstract][Full Text] [Related]
18. From Genes to Therapy: A Comprehensive Exploration of Congenital Heart Disease Through the Lens of Genetics and Emerging Technologies.
Nawaz K; Alifah N; Hussain T; Hameed H; Ali H; Hamayun S; Mir A; Wahab A; Naeem M; Zakria M; Pakki E; Hasan N
Curr Probl Cardiol; 2024 Jun; ():102726. PubMed ID: 38944223
[TBL] [Abstract][Full Text] [Related]
19. Prevalence of chromosomal abnormalities and 22q11.2 deletion in conotruncal and non-conotruncal antenatally diagnosed congenital heart diseases in a Chinese population.
Kong CW; Cheng YKY; To WWK; Leung TY
Hong Kong Med J; 2019 Feb; 25(1):6-12. PubMed ID: 30655461
[TBL] [Abstract][Full Text] [Related]
20. Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.
Breckpot J; Thienpont B; Arens Y; Tranchevent LC; Vermeesch JR; Moreau Y; Gewillig M; Devriendt K
Cytogenet Genome Res; 2011; 135(3-4):251-9. PubMed ID: 21921585
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
