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2005 3
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Page 1
Transposition of the great arteries.
Martins P, Castela E. Martins P, et al. Orphanet J Rare Dis. 2008 Oct 13;3:27. doi: 10.1186/1750-1172-3-27. Orphanet J Rare Dis. 2008. PMID: 18851735 Free PMC article. Review.
Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance. The incidence is estimated at 1 in 3,500-5,000 live births, wi …
Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohesinopathy context, especially in comparison to Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, a very distinct cohesinopat …
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohe …
Common Left-to-Right Shunts.
Burkett DA. Burkett DA. Pediatr Clin North Am. 2020 Oct;67(5):821-842. doi: 10.1016/j.pcl.2020.06.007. Epub 2020 Aug 11. Pediatr Clin North Am. 2020. PMID: 32888684 Review.
This review covers basic anatomy, physiology, physical examination findings, diagnosis and management for atrial septal defects, ventricular septal defects, and patent ductus arteriosa....
This review covers basic anatomy, physiology, physical examination findings, diagnosis and management for atrial septal defect …
Pediatric Pulmonary Arterial Hypertension.
Frank BS, Ivy DD. Frank BS, et al. Pediatr Clin North Am. 2020 Oct;67(5):903-921. doi: 10.1016/j.pcl.2020.06.005. Pediatr Clin North Am. 2020. PMID: 32888689 Review.
Human Genetics of Atrial Septal Defect.
Larsen LA, Hitz MP. Larsen LA, et al. Adv Exp Med Biol. 2024;1441:467-480. doi: 10.1007/978-3-031-44087-8_24. Adv Exp Med Biol. 2024. PMID: 38884726 Review.
Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human genetics and genetic counseling is distinguishing between isolated and familiar cases without extracardiac features and syndromic cases with the c …
Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human geneti …
[Mechanisms of platypnea-orthodeoxia syndrome].
Salas-Pacheco JL. Salas-Pacheco JL. Arch Cardiol Mex. 2022 Apr 4;92(2):274-282. doi: 10.24875/ACM.21000171. Arch Cardiol Mex. 2022. PMID: 34428199 Free PMC article. Review.
The degree of hypoxemia is variable; however, the diagnostic criteria include the decrease in arterial oxygen pressure more than 4 mmHg or oxygen saturation more than 5%. Even though many diseases cause this syndrome, there are only two responsible mechanisms, intracardiac …
The degree of hypoxemia is variable; however, the diagnostic criteria include the decrease in arterial oxygen pressure more than 4 mmHg or o …
Morphogenesis and molecular considerations on congenital cardiac septal defects.
Gittenberger-de Groot AC, Calkoen EE, Poelmann RE, Bartelings MM, Jongbloed MR. Gittenberger-de Groot AC, et al. Ann Med. 2014 Dec;46(8):640-52. doi: 10.3109/07853890.2014.959557. Epub 2014 Oct 13. Ann Med. 2014. PMID: 25307363 Free article. Review.
Alignment and fusion of the septal components is required to ensure full septation of the heart. ...TBX5), it can explain a variety of atrial septal defects. The various defects can occur as isolated anomalies or within families. ...
Alignment and fusion of the septal components is required to ensure full septation of the heart. ...TBX5), it can explain a variety o …
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.
Ellesøe SG, Johansen MM, Bjerre JV, Hjortdal VE, Brunak S, Larsen LA. Ellesøe SG, et al. Congenit Heart Dis. 2016 May;11(3):283-90. doi: 10.1111/chd.12317. Epub 2015 Dec 18. Congenit Heart Dis. 2016. PMID: 26679770 Free PMC article. Review.
OBJECTIVE: Atrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in families as an autosomal dominant trait as well as in nonfamilial CHD. ...RESULTS: We screened 39 probands with familial CHD for mutations …
OBJECTIVE: Atrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in …
Primum atrial septal defect.
Sadeghi AM, Laks H, Pearl JM. Sadeghi AM, et al. Semin Thorac Cardiovasc Surg. 1997 Jan;9(1):2-7. Semin Thorac Cardiovasc Surg. 1997. PMID: 9109219 Review.
The purpose of this report is to review our surgical experience with primum atrial septal defect. Since 1982, infants with primum atrial septal defect have undergone complete repair consisting of closure of the cleft of the left atriovent …
The purpose of this report is to review our surgical experience with primum atrial septal defect. Since 1982, infants w …
Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S. Perrot A, et al. Adv Exp Med Biol. 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. Adv Exp Med Biol. 2024. PMID: 38884729 Review.
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in i …
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of …
191 results