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

Year Number of Results
2006 1
2007 4
2008 4
2009 5
2010 4
2011 7
2012 7
2013 7
2014 11
2015 15
2016 16
2017 8
2018 4
2019 10
2020 10
2021 13
2022 6
2023 6

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116 results

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Page 1
Pathophysiology and Pathogenesis of Marfan Syndrome.
Zeigler SM, Sloan B, Jones JA. Zeigler SM, et al. Adv Exp Med Biol. 2021;1348:185-206. doi: 10.1007/978-3-030-80614-9_8. Adv Exp Med Biol. 2021. PMID: 34807420 Free PMC article. Review.
Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. ...The present chapter will focus on the pathophysiology and clinical treatment of Marfan syndrome, providing an updated overv …
Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penet …
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R. Gouda P, et al. Int J Cardiol. 2022 Sep 1;362:158-167. doi: 10.1016/j.ijcard.2022.05.065. Epub 2022 Jun 1. Int J Cardiol. 2022. PMID: 35662564 Free article. Review.
INTRODUCTION: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor beta signalling pathway. ...METHODS: Our search included five databases (Pubmed, SCOPUS, Web of Science, EMBASE and goo …
INTRODUCTION: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transf …
Thoracic Aortic Aneurysm: A Clinical Review.
Senser EM, Misra S, Henkin S. Senser EM, et al. Cardiol Clin. 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. Cardiol Clin. 2021. PMID: 34686263 Review.
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B. Van Laer L, et al. Adv Exp Med Biol. 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. Adv Exp Med Biol. 2014. PMID: 24443023 Review.
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. ...
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvemen …
Pathophysiology of Eosinophilic Esophagitis.
O'Shea KM, Aceves SS, Dellon ES, Gupta SK, Spergel JM, Furuta GT, Rothenberg ME. O'Shea KM, et al. Gastroenterology. 2018 Jan;154(2):333-345. doi: 10.1053/j.gastro.2017.06.065. Epub 2017 Jul 27. Gastroenterology. 2018. PMID: 28757265 Free PMC article. Review.
Acute aortic dissection: pathogenesis, risk factors and diagnosis.
Gawinecka J, Schönrath F, von Eckardstein A. Gawinecka J, et al. Swiss Med Wkly. 2017 Aug 25;147:w14489. doi: 10.4414/smw.2017.14489. eCollection 2017. Swiss Med Wkly. 2017. PMID: 28871571 Free article. Review.
Acute aortic dissection is a rare but life-threatening condition with a lethality rate of 1 to 2% per hour after onset of symptoms in untreated patients. ...However, patients with genetic connective tissue disorders such as Marfan, Loeys Dietz or Ehlers Danlo …
Acute aortic dissection is a rare but life-threatening condition with a lethality rate of 1 to 2% per hour after onset of symptoms in …
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. Boone PM, et al. Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. Am J Respir Crit Care Med. 2019. PMID: 30681372 Free PMC article. Review.
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis, Loeys …
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type …
Loeys-Dietz syndrome: a primer for diagnosis and management.
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. MacCarrick G, et al. Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27. Genet Med. 2014. PMID: 24577266 Free PMC article. Review.
Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. ...This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndro …
Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. ...This …
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 …
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Colombi M, et al. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821090 Review.
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. ...In this review, we revise the differential diagnosi …
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly …
116 results