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Andersons pediatric cardiology 2082

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Annotated References Calcagni G, Unolt M, Digilio MC, et al Congenital heart disease and genetic syndromes: new insights into molecular mechanisms Expert Rev Mol Diagn 2017;17:861–870 Recent review on anatomic and prognostic characteristics of congenital heart defects in genetic syndromes Prandstraller D, Mazzanti L, Picchio FM, et al Turner's syndrome: cardiologic profile according to the different chromosomal patterns and longterm clinical follow-up of 136 non-preselected patients Pediatr Cardiol 1999;20:108–112 Review of genotype-phenotype correlations for congenital heart defects in Turner syndrome Kosiv KA, Gossett JM, Bai S, et al Congenital heart surgery on In-hospital mortality in trisomy 13 and 18 Pediatrics 2017;140 [e20170772] Recent discussion on in-hospital mortality in trisomy 13 and 18 with new insights Bassett AS, McDonald-McGinn DM, Devriendt K, et al Practical guidelines for managing patients with 22q11.2 deletion syndrome J Pediatr 2011;159:332–339 Complete and recent guidelines for patients with 22q11.2 deletion syndrome (DiGeorge/Velocardiofacial syndrome) Marino B, Digilio MC, Toscano A, et al Anatomic patterns of conotruncal defects associated with deletion 22q11 Genet Med 2001;3:45–48 Review of anatomic characteristics of congenital heart defects in Del22q11.2 syndrome Michielon G, Marino B, Orecchio G, et al Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects J Thorac Cardiovasc Surg 2009;138:565–570 Interesting comparison of results of surgical outcomes in patients with conotruncal heart defects in different genetic syndromes Calcagni G, Limongelli G, D'Ambrosio A, et al Cardiac defects, morbidity and mortality in patients affected by RASopathies CARNET study results Int J Cardiol 2017;245:92–98 Recent data on genotype-phenotype correlations and clinical and prognostic aspects on congenital heart defects in RASopathies Gelb BD, Roberts AE, Tartaglia M Cardiomyopathies in Noonan syndrome and other RASopathies Prog Pediatr Cardiol 2015;39:13–19 Recent review on cardiomyopathy in Noonan syndrome Ruiz-Perez VL, Goodship JA Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands Am J Med Genet 2009;151C:341–351 Review on clinical features and molecular results in Ellis-van Creveld syndrome Digilio MC, Gnazzo M, Lepri F, et al Congenital heart defects in molecularly proven Kabuki syndrome patients Am J Med Genet A 2017;173:2912–2922 Recent review on anatomic types of congenital heart defects in Kabuki syndrome Goldmuntz E, Moore E, Spinner NB The cardiovascular manifestations of Alagille syndrome and JAG1 mutations Methods Mol Med 2006;126:217–231 Review of cardiovascular anomalies in Alagille syndrome Southgate L, Karountzos ASV, Sukalo M, et al Mutations of the notch1 receptor are a common cause of Adams-Oliver syndrome related to congenital heart defects Circ Cardiovasc Genet 2015;8:572–581 Identification of the gene causing Adams-Oliver syndrome and congenital heart defect: review of

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