Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 182

1.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A.

BMC Med Genet. 2018 Sep 15;19(1):170. doi: 10.1186/s12881-018-0661-2.

2.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
3.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J.

J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.

PMID:
30071989
4.

Proteomics Reveals Rictor as a Non-Canonical TGFB Signaling Target During Aneurysm Progression in Marfan Mice.

Parker SJ PhD, Stotland A, MacFarlane E, Wilson N, Orosco A, Venkatraman V, Madrid K, Gottlieb RA, Dietz HC, Van Eyk JE.

Am J Physiol Heart Circ Physiol. 2018 Jul 13. doi: 10.1152/ajpheart.00089.2018. [Epub ahead of print]

PMID:
30004239
5.

Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome.

Chu LC, Haroun RR, Beaulieu RJ, Black JH 3rd, Dietz HC, Fishman EK.

J Comput Assist Tomogr. 2018 Sep/Oct;42(5):747-753. doi: 10.1097/RCT.0000000000000764.

PMID:
29901510
6.

Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.

Kirby DJ, Dietz HC, Sponseller PD.

J Pediatr Orthop. 2018 Sep;38(8):e455-e461. doi: 10.1097/BPO.0000000000001203.

PMID:
29889773
7.

Loeys-Dietz Syndrome.

Loeys BL, Dietz HC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 28 [updated 2018 Mar 1].

8.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
9.

Marfan Syndrome.

Dietz H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Apr 18 [updated 2017 Oct 12].

10.

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium.

Front Physiol. 2017 Sep 25;8:730. doi: 10.3389/fphys.2017.00730. eCollection 2017.

11.

Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice.

Rouf R, MacFarlane EG, Takimoto E, Chaudhary R, Nagpal V, Rainer PP, Bindman JG, Gerber EE, Bedja D, Schiefer C, Miller KL, Zhu G, Myers L, Amat-Alarcon N, Lee DI, Koitabashi N, Judge DP, Kass DA, Dietz HC.

JCI Insight. 2017 Aug 3;2(15). pii: 91588. doi: 10.1172/jci.insight.91588. [Epub ahead of print]

12.

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium.

Front Physiol. 2017 Jun 13;8:400. doi: 10.3389/fphys.2017.00400. eCollection 2017. Erratum in: Front Physiol. 2017 Sep 25;8:730.

13.

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.

Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC.

Sci Transl Med. 2017 Jun 7;9(393). pii: eaal1669. doi: 10.1126/scitranslmed.aal1669.

14.

Moderately Elevated Homocysteine Does Not Contribute to Thoracic Aortic Aneurysm in Mice.

Roohi J, Kang B, Bernard D, Bedja D, Dietz HC, Brody LC.

J Nutr. 2017 Jul;147(7):1290-1295. doi: 10.3945/jn.117.251173. Epub 2017 May 24.

15.

Aortic Root Replacement for Children With Loeys-Dietz Syndrome.

Patel ND, Alejo D, Crawford T, Hibino N, Dietz HC, Cameron DE, Vricella LA.

Ann Thorac Surg. 2017 May;103(5):1513-1518. doi: 10.1016/j.athoracsur.2017.01.053. Epub 2017 Mar 31.

PMID:
28366467
16.

2016 Presidential Address: Let's Make Human Genetics Great (Again): The Importance of Beauty in Science.

Dietz HC.

Am J Hum Genet. 2017 Mar 2;100(3):379-384. doi: 10.1016/j.ajhg.2017.01.009. No abstract available.

17.

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.

MacFarlane EG, Haupt J, Dietz HC, Shore EM.

Cold Spring Harb Perspect Biol. 2017 Nov 1;9(11). pii: a022269. doi: 10.1101/cshperspect.a022269. Review.

PMID:
28246187
18.

Simplified mitral valve repair in pediatric patients with connective tissue disorders.

Vricella LA, Ravekes WA, Arbustini E, Jaquiss RD, Mavroudis C, Dietz HC, Jacobs ML, Hibino N, Cameron DE.

J Thorac Cardiovasc Surg. 2017 Feb;153(2):399-403. doi: 10.1016/j.jtcvs.2016.09.039. Epub 2016 Sep 23.

PMID:
28104197
19.

Chronobiology of Acute Aortic Dissection in the Marfan Syndrome (from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions and the International Registry of Acute Aortic Dissection).

Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, Pyeritz RE; GenTAC and IRAD investigators.

Am J Cardiol. 2017 Mar 1;119(5):785-789. doi: 10.1016/j.amjcard.2016.11.021. Epub 2016 Dec 2.

PMID:
28065489
20.

Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results.

Patel ND, Crawford T, Magruder JT, Alejo DE, Hibino N, Black J, Dietz HC, Vricella LA, Cameron DE.

J Thorac Cardiovasc Surg. 2017 Feb;153(2):406-412. doi: 10.1016/j.jtcvs.2016.10.088. Epub 2016 Nov 16.

PMID:
27955909

Supplemental Content

Loading ...
Support Center