Literature DB >> 21484991

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Sérgio B Sousa1, Karen Lambot-Juhan, Marlène Rio, Geneviève Baujat, Vicken Topouchian, Nadine Hanna, Martine Le Merrer, Francis Brunelle, Arnold Munnich, Catherine Boileau, Valérie Cormier-Daire.   

Abstract

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Year:  2011        PMID： 21484991     DOI： 10.1002/ajmg.a.33813

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

Review 1.  Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.

Authors:  Vivek B Kalra; John W Gilbert; Ajay Malhotra
Journal:  Pediatr Radiol       Date:  2011-07-23

2.  Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Authors:  Alessio Pieroni; Marco Castori; Paolo Caso; Eugenio Di Bernardini; Manuela De Michele; Marco Ritelli; Marina Colombi; Danilo Toni
Journal:  Intern Emerg Med       Date:  2015-01-15       Impact factor: 3.397

3.  High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome.

Authors:  Sara K Fuhrhop; Mark J McElroy; Harry C Dietz; Gretchen L MacCarrick; Paul D Sponseller
Journal:  J Bone Joint Surg Am       Date:  2015-03-04       Impact factor: 5.284

4.  Hyperactive transforming growth factor-β1 signaling potentiates skeletal defects in a neurofibromatosis type 1 mouse model.

Authors:  Steven D Rhodes; Xiaohua Wu; Yongzheng He; Shi Chen; Hao Yang; Karl W Staser; Jiapeng Wang; Ping Zhang; Chang Jiang; Hiroki Yokota; Ruizhi Dong; Xianghong Peng; Xianlin Yang; Sreemala Murthy; Mohamad Azhar; Khalid S Mohammad; Mingjiang Xu; Theresa A Guise; Feng-Chun Yang
Journal:  J Bone Miner Res       Date:  2013-12       Impact factor: 6.741

5.  Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Authors:  N Riise; B R Lindberg; M A Kulseth; S O Fredwall; R Lundby; M-E Estensen; L Drolsum; E Merckoll; K Krohg-Sørensen; B Paus
Journal:  BMC Med Genet       Date:  2018-08-31       Impact factor: 2.103

6.  Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome.

Authors:  Marc Andrew Prablek; Melissa LoPresti; Brandon Bertot; Shaine Alaine Morris; David Bauer; Sandi Lam; Vijay Ravindra
Journal:  Surg Neurol Int       Date:  2022-03-18

Review 7.  When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children.

Authors:  Marco Cattalini; Raju Khubchandani; Rolando Cimaz
Journal:  Pediatr Rheumatol Online J       Date:  2015-10-06       Impact factor: 3.054

Review 8.  Loeys-Dietz syndrome: a primer for diagnosis and management.

Authors:  Gretchen MacCarrick; James H Black; Sarah Bowdin; Ismail El-Hamamsy; Pamela A Frischmeyer-Guerrerio; Anthony L Guerrerio; Paul D Sponseller; Bart Loeys; Harry C Dietz
Journal:  Genet Med       Date:  2014-02-27       Impact factor: 8.822
  8 in total

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