Literature DB >> 31533917

Ehlers-Danlos syndromes.

Neeti Ghali1, Glenda Sobey2, Nigel Burrows3.   

Abstract

Mesh：

Year:  2019        PMID： 31533917     DOI： 10.1136/bmj.l4966

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  17 in total

Review 1.  Bone Disease in Patients with Ehlers-Danlos Syndromes.

Authors:  Shuaa Basalom; Frank Rauch
Journal:  Curr Osteoporos Rep       Date:  2020-04       Impact factor: 5.096

2.  Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.

Authors:  Lucia Micale; Carmela Fusco; Marco Castori
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 3.  Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Authors:  Aude Beyens; Lore Pottie; Patrick Sips; Bert Callewaert
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

4.  Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.

Authors:  Jacob Steinle; Waheeda A Hossain; Olivia J Veatch; Samuel P Strom; Merlin G Butler
Journal:  Am J Med Genet A       Date:  2022-07-29       Impact factor: 2.578

5.  Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.

Authors:  Jordan Fett; Milena Dimori; John L Carroll; Roy Morello
Journal:  Physiol Rep       Date:  2022-04

6.  Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.

Authors:  Marcus Fager Ferrari; Eva Zetterberg; Maria Rossing; Tina Manon-Jensen; Martin Pehrsson; Morten A Karsdal; Jens Lykkesfeldt; Eva Leinoe
Journal:  Haemophilia       Date:  2020-11-07       Impact factor: 4.287

7.  A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.

Authors:  Rosaura Conti; Chiara Zanchi; Egidio Barbi
Journal:  Ital J Pediatr       Date:  2021-02-12       Impact factor: 2.638

8.  Type V Collagen in Scar Tissue Regulates the Size of Scar after Heart Injury.

Authors:  Tomohiro Yokota; Jackie McCourt; Feiyang Ma; Shuxun Ren; Shen Li; Tae-Hyung Kim; Yerbol Z Kurmangaliyev; Rohollah Nasiri; Samad Ahadian; Thang Nguyen; Xing Haw Marvin Tan; Yonggang Zhou; Rimao Wu; Abraham Rodriguez; Whitaker Cohn; Yibin Wang; Julian Whitelegge; Sergey Ryazantsev; Ali Khademhosseini; Michael A Teitell; Pei-Yu Chiou; David E Birk; Amy C Rowat; Rachelle H Crosbie; Matteo Pellegrini; Marcus Seldin; Aldons J Lusis; Arjun Deb
Journal:  Cell       Date:  2020-07-03       Impact factor: 66.850

9.  Colonoscopy is safe and not associated with higher pain scores in patients with hypermobility spectrum disorder: results from an exploratory prospective study.

Authors:  Abraham B Beckers; Lisa Vork; Asma Fikree; Rogier de Ridder; Qasim Aziz; Ad Masclee; Daniel Keszthelyi
Journal:  Therap Adv Gastroenterol       Date:  2020-07-17       Impact factor: 4.409

Review 10.  Potential Molecular Pathways Related to Pulmonary Artery Aneurysm Development: Lessons to Learn from the Aorta.

Authors:  Jorge Nuche; Julián Palomino-Doza; Fernando Arribas Ynsaurriaga; Juan F Delgado; Borja Ibáñez; Eduardo Oliver; Pilar Escribano Subías
Journal:  Int J Mol Sci       Date:  2020-04-04       Impact factor: 5.923
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