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Select item 110354671.

Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain

Jessica Warnink-Kavelaars, Lisanne E. de Koning, Annelies E. van der Hulst, Annemieke I. Buizer, Nicole Poissonnier, Laura E. Wijninga, Leonie A. Menke, Laura Muiño Mosquera, Lies Rombaut, Raoul H. H. Engelbert

Eur J Pediatr. 2024; 183(5): 2421–2429. Published online 2024 Mar 11. doi: 10.1007/s00431-024-05456-z

PMCID:: PMC11035467

Abstract Article PDF–802K

Select item 110098342.

Predictors of low bone density and fracture risk in Loeys–Dietz syndrome

Anthony L. Guerrerio, Allyson Mateja, Marjohn Rasooly, Samara Levin, Alaina Magnani, Caeden Dempsey, Gretchen MacCarrick, Harry C. Dietz, Erica Brittain, Alison M. Boyce, Pamela A. Frischmeyer-Guerrerio

Genet Med. Author manuscript; available in PMC 2024 Apr 12.

Published in final edited form as: Genet Med. 2022 Feb; 24(2): 419–429. Published online 2021 Nov 30. doi: 10.1016/j.gim.2021.10.002

PMCID:: PMC11009834

Abstract Article PDF–734K

Select item 110074853.

Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder

Jun W. Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C. Brewer, Hung Jeffrey Kim

Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2024 Apr 11.

Published in final edited form as: Otolaryngol Head Neck Surg. 2022 Feb; 166(2): 357–362. Published online 2021 May 11. doi: 10.1177/01945998211008899

PMCID:: PMC11007485

Abstract Article PDF–345K

Select item 107250734.

Total arch replacement using frozen elephant trunk and repair of bilateral subclavian artery aneurysms in a patient with type 2 Loeys-Dietz syndrome

Sheela T. Patel, Maksim V. Gusev, Anees J. Razzouk

J Vasc Surg Cases Innov Tech. 2023 Dec; 9(4): 101292. Published online 2023 Aug 11. doi: 10.1016/j.jvscit.2023.101292

PMCID:: PMC10725073

Abstract Article PDF–1.7M

Select item 107244975.

A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome

Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro

Mol Genet Genomic Med. 2023 Dec; 11(12): e2257. Published online 2023 Oct 20. doi: 10.1002/mgg3.2257

PMCID:: PMC10724497

Abstract Article PDF–7.6M

Select item 106311256.

Iatrogenic aortic dissection during aortic root replacement in an older Loeys–Dietz syndrome type III patient with no family history of aortic disease: a case report

Kenichi Kato, Ken Nakamura, Kaho Kato, Shusuke Arai, Shuto Hirooka, Cholsu Kim, Hideaki Uchino, Takao Shimanuki

J Cardiothorac Surg. 2023; 18: 305. Published online 2023 Nov 8. doi: 10.1186/s13019-023-02430-y

PMCID:: PMC10631125

Abstract Article PDF–1.8M

Select item 105932847.

Pediatric Bentall procedure for giant ascending aortic aneurysm in Loeys–Dietz syndrome

Hüseyin Sicim, Ali Ertan Ulucan, Okan Yurdakök, Numan Ali Aydemir

Ann Pediatr Cardiol. 2023 May-Jun; 16(3): 223–225. Published online 2023 Sep 8. doi: 10.4103/apc.apc_22_23

PMCID:: PMC10593284

Abstract Article PDF–1.1M

Select item 104640948.

David V procedure and hemiarch replacement in a patient with Loeys-Dietz-Syndrome and beta thalassemia minor: a case report

Frieda-Maria Kainz, Kathrin Freystaetter, Bruno K. Podesser, Christoph Holzinger

J Cardiothorac Surg. 2023; 18: 253. Published online 2023 Aug 27. doi: 10.1186/s13019-023-02347-6

PMCID:: PMC10464094

Abstract Article PDF–948K

Select item 103186899.

Ten-year follow-up study of a young woman with loeys-dietz syndrome: a case report

Tomohiro Nakajima, Yutaka Iba, Tsuyoshi Shibata, Itaru Hosaka, Jyunji Nakazawa, Nobuyoshi Kawaharada

J Cardiothorac Surg. 2023; 18: 209. Published online 2023 Jul 4. doi: 10.1186/s13019-023-02322-1

PMCID:: PMC10318689

Abstract Article PDF–1.5M

Select item 1027697510.

Twin hearts—minimally invasive mitral valve repair in twin sisters with mitral annular disjunction and Loeys-Dietz syndrome: a case series

Stelios Ioannou, George Shiakos, Theodoros Ntoskas, Elias Papasavvas, Violetta Anastasiadi, Nikoleta Betsimea Loizides, Petros Mavrommatis, Ioannis Tzanavaros

J Surg Case Rep. 2023 Jun; 2023(6): rjad344. Published online 2023 Jun 17. doi: 10.1093/jscr/rjad344

PMCID:: PMC10276975

Abstract Article PDF–547K

Select item 1017218811.

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli

Eur J Hum Genet. 2023 May; 31(5): 596–601. Published online 2023 Jan 4. doi: 10.1038/s41431-022-01279-4

PMCID:: PMC10172188

Abstract Article PDF–5.0M

Select item 1015845212.

Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys–Dietz Syndrome Child

Alina Opréa, Sophie Collardeau-Frachon, Sophie Heissat, Noel Peretti, Alain Lachaux, Rémi Duclaux-Loras

JPGN Rep. 2022 Feb; 3(1): e139. Published online 2021 Dec 10. doi: 10.1097/PG9.0000000000000139

PMCID:: PMC10158452

Abstract Article PDF–262K

Select item 1011317813.

Thoracolumbar Scoliosis in Pediatric Patients With Loeys-Dietz Syndrome: A Case Series

Melissa A LoPresti, Prazwal Athukuri, A. Basit Khan, Marc Prablek, Rajan Patel, Rory Mayer, David F Bauer, Frank T Gerow, Shaine A Morris, Sandi Lam, Vijay Ravindra

Cureus. 2023 Mar; 15(3): e36372. Published online 2023 Mar 19. doi: 10.7759/cureus.36372

PMCID:: PMC10113178

Abstract Article PDF–808K

Select item 1003397914.

Iliac branch endoprosthesis for repair of a common iliac artery aneurysm in Loeys-Dietz syndrome type 3

Anand Brahmandam, Raul J. Guzman, Naiem Nassiri

J Vasc Surg Cases Innov Tech. 2023 Jun; 9(2): 101131. Published online 2023 Feb 21. doi: 10.1016/j.jvscit.2023.101131

PMCID:: PMC10033979

Abstract Article PDF–890K

Select item 989878415.

Multiple deep femoral artery aneurysms with Loeys-Dietz syndrome

Haruki Tanaka, Kazuki Naito, Shota Kobayashi, Kazunori Komatsu

J Vasc Surg Cases Innov Tech. 2023 Mar; 9(1): 101071. Published online 2022 Dec 5. doi: 10.1016/j.jvscit.2022.11.009

PMCID:: PMC9898784

Abstract Article PDF–1.6M

Select item 980810816.

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome

Mathieu N. Suleiman, Sebastian Freilinger, Christian Meierhofer, Matthias May, Gert Bischoff, Peter Ewert, Annika Freiberger, Michael Huntgeburth, Ann-Sophie Kaemmerer, Mohamed Marwan, Nicole Nagdyman, Jan-Peter Roth, Harald Kaemmerer, Michael Weyand, Frank Harig

Cardiovasc Diagn Ther. 2022 Dec; 12(6): 787–802. doi: 10.21037/cdt-22-383