Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Heritable connective tissue disorder"'
Publikováno v:
Human Mutation. 42:1294-1306
Classical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder mainly caused by pathogenic variants in COL5A1 or COL5A2, encoding type V collagen. Its diagnosis, based on clinical criteria and molecular confirmation, can be challen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211c3b2b492e0ce070bf742713b2b611
https://doi.org/10.1002/humu.24258
https://doi.org/10.1002/humu.24258
Autor:
Warnink-Kavelaars, J, de Koning, LE, Rombaut, Lies, Menke, LA, Alsem, MW, van Oers, HA, Buizer, AI, Engelbert, RHH, Oosterlaan, J, Pediatric Heritable Connective Tissue Disorder study, group
Publikováno v:
American journal of medical genetics. Part A, 188(7), 2096-2109. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 188(7), 2096-2109. Wiley-Liss Inc.
Pediatric Heritable Connective Tissue Disorder study group 2022, ' Heritable connective tissue disorders in childhood : Decreased health-related quality of life and mental health ', American Journal of Medical Genetics Part A, vol. 188, no. 7, pp. 2096-2109 . https://doi.org/10.1002/ajmg.a.62750
American Journal of Medical Genetics-Part A, 188(7), 2096-2109. John Wiley & Sons, Inc.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
American Journal of Medical Genetics Part A, 188(7), 2096-2109. Wiley-Liss Inc.
Pediatric Heritable Connective Tissue Disorder study group 2022, ' Heritable connective tissue disorders in childhood : Decreased health-related quality of life and mental health ', American Journal of Medical Genetics Part A, vol. 188, no. 7, pp. 2096-2109 . https://doi.org/10.1002/ajmg.a.62750
American Journal of Medical Genetics-Part A, 188(7), 2096-2109. John Wiley & Sons, Inc.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2795bd1845990ab02084b1cb519871
https://pure.amc.nl/en/publications/heritable-connective-tissue-disorders-in-childhood-decreased-healthrelated-quality-of-life-and-mental-health(ba080989-1994-4f19-bdc7-5773499dba3c).html
https://pure.amc.nl/en/publications/heritable-connective-tissue-disorders-in-childhood-decreased-healthrelated-quality-of-life-and-mental-health(ba080989-1994-4f19-bdc7-5773499dba3c).html
Autor:
Thomas Edouard, Guillaume Rolland, Marion Aubert-Mucca, Thierry Lavabre-Bertrand, Nicolas Chassaing, Aurélie Plancke, Yves Dulac, Philippe Khau Van Kien, Elise Brischoux-Boucher, Julie Plaisancié, Bertrand Chesneau, Christine Coubes
Publikováno v:
European Journal of Human Genetics
Marfan syndrome (MFS) is a heritable connective tissue disorder (HCTD) caused by pathogenic variants in FBN1 that frequently occur de novo. Although individuals with somatogonadal mosaicisms have been reported with respect to MFS and other HCTD, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc18bbb815e0280be1ecb9928ee1bf7c
https://doi.org/10.1038/s41431-020-00797-3
https://doi.org/10.1038/s41431-020-00797-3
Autor:
Robert W. Harrison, Sitharthan Sekar, Svati H. Shah, Sreekanth Vemulapalli, Eric Black-Maier, Rahul S. Loungani, Michael Rehorn
Publikováno v:
JACC: Case Reports, Vol 2, Iss 11, Pp 1662-1666 (2020)
JACC Case Reports
JACC Case Reports
A 69-year-old man with a history of coronary artery ectasia, potentially resulting from an underlying heritable connective tissue disorder, presented with ventricular fibrillation. Despite medical management of ischemia, he developed recurrent ventri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427a6925914734059199154eb0f721c2
http://www.sciencedirect.com/science/article/pii/S2666084920308421
http://www.sciencedirect.com/science/article/pii/S2666084920308421
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 187(4)
Irritable bowel syndrome (IBS) is common, but its cause remains unknown. IBS patients present with gastrointestinal (GI) symptoms such as abdominal pain with altered bowel habits; however, some patients also have non-GI symptoms including muscle and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc04ce2bf0b8e0f15984fe7a2265ce98
https://pubmed.ncbi.nlm.nih.gov/34741491
https://pubmed.ncbi.nlm.nih.gov/34741491
Autor:
Paola Origone, Federica Ruscitti, Giulia Rosti, Annalia Cianflone, Paola Mandich, Anna Pichiecchio, Simona Viglio, Maria Iascone, Fabio Gotta, Lucia Trevisan, Alessandro Geroldi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Vascular Ehlers–Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers–Danlos syndrome (EDS) due to an increased ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8c4685f496f3f95fe8343f7d61beb1
https://doi.org/10.1002/mgg3.1753
https://doi.org/10.1002/mgg3.1753
Autor:
Noriko Miyake, Atsushi Watanabe, Ken-ichi Matsumoto, Atsushi Fujita, Haruo Takeshita, Kazuo Yamada, Naomichi Matsumoto
Publikováno v:
Biological and Pharmaceutical Bulletin. 42:1596-1599
Joint hypermobility syndrome (JHS) (also termed hypermobility type Ehlers-Danlos syndrome, hEDS) is a heritable connective tissue disorder that is characterized by generalized joint hypermobility, chronic pain, fatigue, and minor skin changes. Initia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0081c2d426b62ba0df1f2297a16df4c9
https://doi.org/10.1248/bpb.b19-00168
https://doi.org/10.1248/bpb.b19-00168
Autor:
Pamela A. Frischmeyer-Guerrerio, Julie Christensen, Christopher K. Zalewski, Caeden Dempsey, Carmen C. Brewer, Hung Jeffrey Kim, Jun Jeon, Alaina Magnani, Jennifer Chisholm, Marjohn Rasooly
Publikováno v:
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 166(2)
Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder resulting from TGF-ß signaling pathway defects and characterized by a wide spectrum of aortic aneurysm, arterial tortuosity, and various extravascular abnormalities. This study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c73b9134dcfee9f680c444f11236660
https://pubmed.ncbi.nlm.nih.gov/33971761
https://pubmed.ncbi.nlm.nih.gov/33971761
Publikováno v:
BMJ Case Rep
Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary noctu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ee5d7a37828c030a3f13192b15c830
https://pubmed.ncbi.nlm.nih.gov/32024714
https://pubmed.ncbi.nlm.nih.gov/32024714
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