Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 196

1.

Intermittent Brugada syndrome in an anorexic adolescent girl.

Docx MKF, Loeys B, Simons A, Gewillig M, Proost D, Van Laer L, Mertens L.

J Cardiol Cases. 2014 Jul 22;10(3):81-84. doi: 10.1016/j.jccase.2014.03.012. eCollection 2014 Sep.

PMID:
30546512
2.

Comparison of biomechanical properties in ascending aortic aneurysms of patients with congenital bicuspid aortic valve and Marfan syndrome.

Yan J, Lehsau AC, Sauer B, Pieper B, Mohamed SA; Mechanistic Interrogation of Bicuspid Aortic Valve associated Aortopathy (MIBAVA) Leducq Consortium.

Int J Cardiol. 2018 Nov 26. pii: S0167-5273(17)35074-X. doi: 10.1016/j.ijcard.2018.11.102. [Epub ahead of print]

PMID:
30527531
3.

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Björk HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME; Baylor-Hopkins Center for Mendelian Genomics; MIBAVA Leducq Consortium, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC.

Nat Genet. 2018 Nov 19. doi: 10.1038/s41588-018-0265-y. [Epub ahead of print]

PMID:
30455415
4.

Spontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention.

Vandeloo B, Azzano A, Schoors D, Verstraeten A, Van Laer L, Loeys B, Vermeersch P.

JACC Cardiovasc Interv. 2018 Nov 6. pii: S1936-8798(18)31907-1. doi: 10.1016/j.jcin.2018.09.007. [Epub ahead of print] No abstract available.

PMID:
30448172
5.

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.

Handisides JC, Hollenbeck-Pringle D, Uzark K, Trachtenberg FL, Pemberton VL, Atz TW, Bradley TJ, Cappella E, De Nobele S, Groh GK, Hamstra MS, Korsin R, Levine JC, Lindauer B, Liou A, Neal MKM, Markham LW, Morrison T, Mussatto KA, Olson AK, Pierpont MEM, Pyeritz RE, Radojewski EA, Roman MJ, Xu M, Lacro RV; Pediatric Heart Network Investigators.

J Pediatr. 2018 Sep 27. pii: S0022-3476(18)31235-6. doi: 10.1016/j.jpeds.2018.08.061. [Epub ahead of print]

PMID:
30270167
6.

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.

7.

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
8.

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.

Letard P, Schepers D, Albuisson J, Bruneval P, Spaggiari E, Van de Beek G, Khung-Savatovsky S, Belarbi N, Capri Y, Delezoide AL, Loeys B, Guimiot F.

Mol Syndromol. 2018 Jul;9(4):190-196. doi: 10.1159/000489838. Epub 2018 Jun 8.

9.

FBLN5-Related Cutis Laxa.

Van Maldergem L, Loeys B.

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.
2009 Mar 19 [updated 2018 Aug 16].

10.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A.

BMC Med Genet. 2018 Aug 8;19(1):140. doi: 10.1186/s12881-018-0655-0.

11.

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
12.

[Hereditary kidney disease in adolescents and adults].

Dendooven A, Van Craenenbroeck AH, Nguyen TQ, Goldschmeding R, Loeys B, Helbert M.

Ned Tijdschr Geneeskd. 2018 May 25;162. pii: D2427. Dutch.

PMID:
30040271
13.

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Boudin E, de Jong TR, Prickett TCR, Lapauw B, Toye K, Van Hoof V, Luyckx I, Verstraeten A, Heymans HSA, Dulfer E, Van Laer L, Berry IR, Dobbie A, Blair E, Loeys B, Espiner EA, Wit JM, Van Hul W, Houpt P, Mortier GR.

Am J Hum Genet. 2018 Aug 2;103(2):288-295. doi: 10.1016/j.ajhg.2018.06.007. Epub 2018 Jul 19.

PMID:
30032985
14.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B.

J Med Genet. 2018 Jul 2. pii: jmedgenet-2018-105304. doi: 10.1136/jmedgenet-2018-105304. [Epub ahead of print]

PMID:
29967133
15.

Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.

Hoskoppal A, Menon S, Trachtenberg F, Burns KM, De Backer J, Gelb BD, Gleason M, James J, Lai WW, Liou A, Mahony L, Olson AK, Pyeritz RE, Sharkey AM, Stylianou M, Wechsler SB, Young L, Levine JC, Tierney ESS, Lacro RV, Bradley TJ; Pediatric Heart Network Investigators.

Pediatr Cardiol. 2018 Oct;39(7):1453-1461. doi: 10.1007/s00246-018-1916-6. Epub 2018 Jun 11.

16.

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.

Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.

17.

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum.

Luyckx I, Bolar N, Diness BR, Hove HB, Verstraeten A, Loeys BL.

Eur J Med Genet. 2018 Jun 12. pii: S1769-7212(18)30014-4. doi: 10.1016/j.ejmg.2018.06.008. [Epub ahead of print] No abstract available.

PMID:
29906517
18.

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.

Meester JAN, Verstraeten A, Alaerts M, Schepers D, Van Laer L, Loeys BL.

Clin Genet. 2019 Jan;95(1):85-94. doi: 10.1111/cge.13382. Epub 2018 Jun 10. Review.

PMID:
29767458
19.

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.

Ergoren MC, Turkgenc B, Teralı K, Rodoplu O, Verstraeten A, Van Laer L, Mocan G, Loeys B, Tetik O, Temel SG.

Connect Tissue Res. 2018 May 28:1-9. doi: 10.1080/03008207.2018.1472589. [Epub ahead of print]

PMID:
29732924
20.

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].

Supplemental Content

Loading ...
Support Center