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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1988 1
1991 1
1994 1
1996 1
1997 1
1998 4
1999 3
2000 1
2001 1
2002 5
2004 3
2005 2
2006 3
2007 6
2009 6
2010 3
2011 8
2012 5
2013 9
2014 6
2015 18
2016 14
2017 6
2018 8
2019 7
2020 6
2021 6
2022 9
2023 3
2024 12

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146 results

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Page 1
Motile ciliopathies.
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Wallmeier J, et al. Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. Nat Rev Dis Primers. 2020. PMID: 32943623 Review.
The pathogenetic mechanisms, clinical symptoms and severity of the disease depend on the specific affected genes and the tissues in which they are expressed. Defects in the ependymal cilia can result in hydrocephalus, defects in the cilia in the fallopian tubes or i …
The pathogenetic mechanisms, clinical symptoms and severity of the disease depend on the specific affected genes and the tissues in which th …
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Pierpont ME, et al. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. Circulation. 2018. PMID: 30571578 Free PMC article. Review.
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of congeni
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital
ZIC3 in Heterotaxy.
Bellchambers HM, Ware SM. Bellchambers HM, et al. Adv Exp Med Biol. 2018;1046:301-327. doi: 10.1007/978-981-10-7311-3_15. Adv Exp Med Biol. 2018. PMID: 29442328 Free PMC article. Review.
Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earl …
Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of m …
Primary Ciliary Dyskinesia.
Knowles MR, Zariwala M, Leigh M. Knowles MR, et al. Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30. Clin Chest Med. 2016. PMID: 27514592 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in 50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measur …
Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and …
Neonatal cardiovascular physiology.
Hines MH. Hines MH. Semin Pediatr Surg. 2013 Nov;22(4):174-8. doi: 10.1053/j.sempedsurg.2013.10.004. Epub 2013 Oct 14. Semin Pediatr Surg. 2013. PMID: 24331090 Review.
The pediatric surgeon deals with a large number and variety of congenital defects in neonates that frequently involve early surgical intervention and care. ...Finally, the pediatric surgeon is often called upon to treat conditions and complications associated with c …
The pediatric surgeon deals with a large number and variety of congenital defects in neonates that frequently involve early su …
Triphalangeal thumb.
Qazi Q, Kassner EG. Qazi Q, et al. J Med Genet. 1988 Aug;25(8):505-20. doi: 10.1136/jmg.25.8.505. J Med Genet. 1988. PMID: 3050097 Free PMC article. Review.
Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a feature of a syndrome or sequence. Isolated TPT occurs in two functional types: opposable and non …
Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malform …
The cardiac malpositions.
Perloff JK. Perloff JK. Am J Cardiol. 2011 Nov 1;108(9):1352-61. doi: 10.1016/j.amjcard.2011.06.055. Epub 2011 Aug 20. Am J Cardiol. 2011. PMID: 21861958 Review.
Dextrocardia was known in the 17th century and was 1 of the first congenital malformations of the heart to be recognized. Fifty years elapsed before Matthew Baillie published his account of complete transposition in a human of the thoracic and abdominal viscera to t …
Dextrocardia was known in the 17th century and was 1 of the first congenital malformations of the heart to be recognized. Fift …
Congenital heart defects in Kabuki syndrome.
Yuan SM. Yuan SM. Cardiol J. 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. Cardiol J. 2013. PMID: 23558868 Free article. Review.
Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. ...Fifteen (19.7%) patients received surgical repair of congenital heart defects at a mean age of 0.8 1.3 years. CONCLUSIONS:
Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. ...Fifteen (19.7%
Neonatal Assessment of Infants with Heterotaxy.
Geddes GC, Samudrala SS, Earing MG. Geddes GC, et al. Clin Perinatol. 2020 Mar;47(1):171-182. doi: 10.1016/j.clp.2019.10.011. Epub 2019 Oct 31. Clin Perinatol. 2020. PMID: 32000924 Review.
Heterotaxy is a generalized term for patients who have an abnormality of laterality that cannot be described as situs inversus. Infants with heterotaxy can have significant anatomic and medical complexity and require personalized, specialized care, including compreh
Heterotaxy is a generalized term for patients who have an abnormality of laterality that cannot be described as situs inversus. Infan
Congenital Heart Disease and Primary Ciliary Dyskinesia.
Harrison MJ, Shapiro AJ, Kennedy MP. Harrison MJ, et al. Paediatr Respir Rev. 2016 Mar;18:25-32. doi: 10.1016/j.prrv.2015.09.003. Epub 2015 Sep 26. Paediatr Respir Rev. 2016. PMID: 26545972 Review.
Through the better understanding of the genetics and clinical associations of Primary Ciliary Dyskinesia (PCD), an autosomal recessive disorder of ciliary motility and mucociliary clearance, the association between PCD and heterotaxic congenital heart disease (CHD) …
Through the better understanding of the genetics and clinical associations of Primary Ciliary Dyskinesia (PCD), an autosomal recessive disor …
146 results