Works matching Ehlers–Danlos syndrome (EDS)

Results: 534

Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS)

Published in:

FEBS Letters, 2010, v. 584, n. 18, p. 3962, doi. 10.1016/j.febslet.2010.08.001

By:

Bui, Catherine;
Talhaoui, Ibtissam;
Chabel, Matthieu;
Mulliert, Guillermo;
Coughtrie, Michael W.H.;
Ouzzine, Mohamed;
Fournel-Gigleux, Sylvie

Publication type:

Article

Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results.

Published in:

Clinica Terapeutica, 2020, v. 171, n. 5, p. e431, doi. 10.7417/CT.2020.2253

By:

Celli, M.;
Iacovino, C.;
Febbo, A.;
Lotti, L. V.;
Miraglia, E.;
Celli, L.;
Roberti, V.;
Sernicola, A.;
Zambrano, A.;
Turchetti, A.;
Vespa, S.;
Giustini, S.

Publication type:

Article

Ehlers-Danlos-Syndrome (EDS) und Parodontitis.

Published in:

Parodontologie: die Zeitschrift für die Praxis (Berlin, Germany), 2023, v. 34, n. 2, p. 167

By:

Kapferer-Seebacher, Ines;
Zschocke, Johannes

Publication type:

Article

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Published in:

Genes, 2019, v. 10, n. 10, p. 799, doi. 10.3390/genes10100799

By:

Caraffi, Stefano Giuseppe;
Maini, Ilenia;
Ivanovski, Ivan;
Pollazzon, Marzia;
Giangiobbe, Sara;
Valli, Maurizia;
Rossi, Antonio;
Sassi, Silvia;
Faccioli, Silvia;
Di Rocco, Maja;
Magnani, Cinzia;
Campos-Xavier, Belinda;
Unger, Sheila;
Superti-Furga, Andrea;
Garavelli, Livia

Publication type:

Article

The Successful Treatment of a Patient with Ehlers–Danlos Syndrome (EDS) After an Extensive Burn Injury: A Case Report.

Published in:

Medicina (1010660X), 2025, v. 61, n. 4, p. 554, doi. 10.3390/medicina61040554

By:

Ziółkowska, Karolina;
Słaboń, Anna;
Glik, Justyna;
Maj, Mariusz;
Olszak, Magdalena;
Mikuś-Zagórska, Karolina;
Strzelec, Przemysław;
Czerny, Katarzyna;
Maciejowski, Ryszard;
Gierek, Marcin;
Łabuś, Wojciech

Publication type:

Article

Patient experience of chronic illness care and complementary integrative health use: a cross-sectional study of patients with hypermobility spectrum disorders (HSD) and Ehlers–Danlos syndromes (EDS).

Published in:

Disability & Rehabilitation, 2023, v. 45, n. 21, p. 3549, doi. 10.1080/09638288.2022.2131003

By:

Guedry, Sara E.;
Langley, Blake O.;
Schaefer, Kerry;
Hanes, Douglas A.

Publication type:

Article

Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management.

Published in:

1998

By:

Heim, P.;
Raghunath, M.;
Meiss, L.;
Heise, U.;
Myllylä, R.;
Kohlschütter, A.;
Steinmann, B.;
Myllylä, R;
Kohlschütter, A

Publication type:

journal article

Ehlers-Danlos Syndrome (EDS) type IV. Review of the literature.

Published in:

Clinical Oral Investigations, 2007, v. 11, n. 3, p. 183, doi. 10.1007/s00784-006-0092-x

By:

Macabu Badauy, Cristiano;
Gomes, Sabrina S.;
Sant'Ana Filho, Manoel;
Bogo Chies, José Artur

Publication type:

Article

Investigation of dermal collagen nanostructures in Ehlers-Danlos Syndrome (EDS) patients.

Published in:

PLoS ONE, 2024, v. 19, n. 8, p. 1, doi. 10.1371/journal.pone.0307442

By:

Neshatian, Mehrnoosh;
Mittal, Nimish;
Huang, Sophia;
Ali, Aiman;
Khattignavong, Emilie;
Bozec, Laurent

Publication type:

Article

An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia.

Published in:

PLoS ONE, 2024, v. 19, n. 7, p. 1, doi. 10.1371/journal.pone.0307574

By:

Trudgian, Rachel;
Flood, Terri

Publication type:

Article

Postural Orthostatic Tachycardia Syndrome (POTS) as an Adverse Event to the Human Papilloma Virus (HPV) Vaccine and Its Relationship with Ehlers–Danlos Syndrome (EDS).

Published in:

2024

By:

Schipperijn, Nicole;
Wijesinghe, Megan;
Romo, Aisa;
Brooks, Benjamin

Publication type:

Case Study

Lateral Patellar Luxation and Ehlers Danlos Syndrome (EDS) in a Dog.

Published in:

2022

By:

Nogueira Aires, Luiz Paulo;
Vasconcelos de Souza, Gislane;
Guilherme Faria, Luis;
WatanabeMinto, Bruno;
Prudente Jacintho, Ana Paula;
Vieira Rossetto, Victor José

Publication type:

Case Study

Case report: further delineation of AEBP1-related Ehlers--Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.

Published in:

Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1102101

By:

Tomomi Yamaguchi;
Shujiro Hayashi;
So Nagai;
Akihiko Uchiyama;
Sei-Ichiro Motegi;
Tomomi Fujikawa;
Yuri Takiguchi;
Tomoki Kosho

Publication type:

Article

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 1, p. 105, doi. 10.1007/s00431-014-2429-9

By:

Abdalla, Ebtesam;
Rohrbach, Marianne;
Bürer, Céline;
Kraenzlin, Marius;
El-Tayeby, Hazem;
Elbelbesy, Mervat;
Nabil, Amira;
Giunta, Cecilia

Publication type:

Article

CORRELATION OF HYPERMOBILE EHLERS-DANLOS SYNDROME (EDS) AND THE JOINT DAMAGE ON DAILY LIFE OF AFFECTED PATIENTS: A BIBLIOGRAPHIC REVIEW.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2024, v. 17, n. 3, p. 1, doi. 10.54751/revistafoco.v17n3-147

By:

Lemes Reis, Danilo;
Campos Amaral, Emanuelle;
Vieira Werneck, Luiza;
Almeida Carvalho, Fernanda;
Lemes Reis, Dhayane;
Lima Souza, Annie Kamilly;
Cordovil Silva, Samira

Publication type:

Article

Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1649

By:

Loughlin, John;
Irven, Catherine;
Hardwick, Lee J.;
Butcher, Sophie;
Walsh, Sinead;
Wordsworth, Paul;
Sykes, Bryan

Publication type:

Article

Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study.

Published in:

BMC Musculoskeletal Disorders, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12891-015-0549-7

By:

Berglund, Britta;
Pettersson, Carina;
Pigg, Maritta;
Kristiansson, Per

Publication type:

Article

A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT).

Published in:

International Journal of Qualitative Studies on Health & Well-Being, 2017, v. 12, n. 1, p. N.PAG, doi. 10.1080/17482631.2017.1371993

By:

Clark, Carol J.;
Knight, Isobel

Publication type:

Article

Hybridized deep learning goniometry for improved precision in Ehlers-Danlos Syndrome (EDS) evaluation.

Published in:

BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02601-4

By:

Kudithi, Thirumalesu;
Balajee, J.;
Sivakami, R.;
Mahesh, T. R.;
Mohan, E.;
Guluwadi, Suresh

Publication type:

Article

Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study.

Published in:

2004

By:

Hagberg, C.;
Bergiund, B.;
Korpe, L.;
Andersson-Noinder, J.;
Hagberg, Catharine;
Berglund, Britta;
Korpe, Lena;
Andersson-Norinder, Jan

Publication type:

journal article

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Published in:

2011

By:

Rohrbach, Marianne;
Vandersteen, Anthony;
Yiş, Uluç;
Serdaroglu, Gul;
Ataman, Esra;
Chopra, Maya;
Garcia, Sixto;
Jones, Kristi;
Kariminejad, Ariana;
Kraenzlin, Marius;
Marcelis, Carlo;
Baumgartner, Matthias;
Giunta, Cecilia

Publication type:

journal article

Integrative medicine for hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS): a feasibility study.

Published in:

Disability & Rehabilitation, 2024, v. 46, n. 24, p. 5854, doi. 10.1080/09638288.2024.2314713

By:

Guedry, Sara E.;
Langley, Blake O.;
Schaefer, Kerry;
Hanes, Douglas A.

Publication type:

Article

The detailed obstetric course of the first Japanese patient with AEBP1‐related Ehlers–Danlos syndrome (classical‐like EDS, type 2).

Published in:

Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 3, p. 1043, doi. 10.1111/jog.15541

By:

Sanai, Hiromi;
Nakamura, Yasuhiko;
Koike, Yuta;
Murota, Hiroyuki;
Kosho, Tomoki;
Sase, Masakatsu

Publication type:

Article

Structural in silico dissection of the collagen V interactome to identify genotype–phenotype correlations in classic Ehlers–Danlos Syndrome (EDS).

Published in:

FEBS Letters, 2015, v. 589, n. 24PartB, p. 3871, doi. 10.1016/j.febslet.2015.11.022

By:

Paladin, Lisanna;
Tosatto, Silvio C.E.;
Minervini, Giovanni

Publication type:

Article

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1233, doi. 10.1002/humu.21355

By:

Malfait, Fransiska;
Syx, Delfien;
Vlummens, Philip;
Symoens, Sofie;
Nampoothiri, Sheela;
Hermanns-Lê, Trinh;
Van Laer, Lut;
De Paepe, Anne

Publication type:

Article

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).

Published in:

Human Mutation, 2009, v. 30, n. 6, p. 995, doi. 10.1002/humu.21000

By:

Mitchell, Anna L.;
Schwarze, Ulrike;
Jennings, Jessica F.;
Byers, Peter H.

Publication type:

Article

Foot pain and disability in individuals with Ehlers-Danlos syndrome (EDS): impact on daily life activities.

Published in:

2005

By:

Berglund B;
Nordström G;
Hagberg C;
Mattiasson A

Publication type:

Journal Article

Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS).

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1885

By:

Yang, Fang;
Yang, Rong‐Juan;
Li, Qian;
Zhang, Jing;
Meng, Yan‐Xin;
Liu, Xiao‐Jun;
Yao, Yong‐Feng

Publication type:

Article

Occupational Therapy Interventions for Clients with Ehlers-Danlos Syndrome (EDS) in the Presence of Postural Orthostatic Tachycardia Syndrome (POTS).

Published in:

Occupational Therapy in Health Care, 2022, v. 36, n. 3, p. 253, doi. 10.1080/07380577.2021.1975200

By:

Levine, David;
Work, Brittany;
McDonald, Susan;
Harty, Nicole;
Mabe, Carolee;
Powell, Alison;
Sanford, Graceline

Publication type:

Article

Multiple supernumerary teeth (MSNT) and Ehlers-Danlos syndrome (EDS): a case report.

Published in:

1994

By:

Melamed, Y.;
Barkali, G.;
Frydman, M.;
Barkai, G

Publication type:

journal article

Third case of a distinct variant of the Ehlers-Danlos Syndrome (EDS).

Published in:

Clinical Genetics, 1981, v. 20, n. 3, p. 222, doi. 10.1111/j.1399-0004.1981.tb01833.x

By:

Hernández, A.;
Aguirre-Negrete, M. G.;
Liparoli, J. C.;
Cantú, J. M.

Publication type:

Article

Ehlers-Danlos Syndrome Type IV (EDS IV) as Model of a Defective Biopolymer Composite Material.

Published in:

Connective Tissue Research, 1989, v. 18, n. 4, p. 269, doi. 10.3109/03008208909019076

By:

Nemetschek, Th.;
Folkhard, W.;
Knorzer, E.;
Mosler, E.;
Nemetschek-Gansler, H.;
Koch, M.H. J.;
Meinel, A.;
Romen, W.

Publication type:

Article

The Vascular Type of Ehlers-Danlos Syndrome.

Published in:

Journal of Nippon Medical School, 2008, v. 75, n. 5, p. 254, doi. 10.1272/jnms.75.254

By:

Watanabe, Atsushi;
Shimada, Takashi

Publication type:

Article

Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.

Published in:

2001

By:

Nishiyama, Y.;
Nejima, J.;
Watanabe, A.;
Kotani, E.;
Sakai, N.;
Hatamochi, A.;
Shinkai, H.;
Kiuchi, K.;
Tamura, K.;
Shimada, T.;
Takano, T.;
Katayama, Y.

Publication type:

journal article

Comorbidities of Rural Children and Adolescents with Migraine and without Migraine.

Published in:

Children, 2023, v. 10, n. 7, p. 1133, doi. 10.3390/children10071133

By:

Walter, Suzy Mascaro;
Dai, Zheng;
Wang, Kesheng

Publication type:

Article

Ehlers-Danlos syndrome and wound healing.

Published in:

Journal of Society for Wound Care & Research, 2015, v. 8, n. 1, p. 10

By:

Gupta, Akriti;
Gupta, Apoorva;
Soodana, Nachiketh Prakash;
Palmer, Joseph;
Kumar, Pramod

Publication type:

Article

Similar Ehlers–Danlos Syndrome Profiles Produced by Variants in Multiple Collagen Genes.

Published in:

DNA (2673-8856), 2025, v. 5, n. 1, p. 11, doi. 10.3390/dna5010011

By:

Tonk, Sahil S.;
Wilson, Golder N.

Publication type:

Article

Gastric perforation leading to the diagnosis of classic Ehlers-Danlos syndrome: a case report.

Published in:

2021

By:

Alotaibi, Ahad E.;
AlAamer, Ohood H.;
Bawazeer, Mohammed A.;
Alzahrani, Ali A.

Publication type:

journal article

Getting To(o) Normal: Reflections On Being "Fitted" by an Occupational Therapist and Related Artefacts.

Published in:

Disability Studies Quarterly, 2020, v. 40, n. 2, p. N.PAG, doi. 10.18061/dsq.v40i2.6752

By:

Goldberg, C.E.

Publication type:

Article

Roles of Two Small Leucine-Rich Proteoglycans Decorin and Biglycan in Pregnancy and Pregnancy-Associated Diseases.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10584, doi. 10.3390/ijms221910584

By:

Halari, Chidambra D.;
Zheng, Michael;
Lala, Peeyush K.

Publication type:

Article

RYZYKO POWSTAWANIA RAN I ZABURZENIA ICH GOJENIA SIĘ W ZESPOLE EHLERSA-DANLOSA.

Published in:

Polish Journal of Wound Management / Leczenie Ran, 2014, v. 11, n. 1, p. 1, doi. 10.15374/LR2014002

By:

JUNKIERT-CZARNECKA, ANNA;
CZARNECKI, DAMIAN;
ZIÓŁKOWSKI, MARCIN;
HAUS, OLGA

Publication type:

Article

Zespół genetyczny sugerujący naczyniowy fenotyp Zespół Ehlersa-Danlosa u 14-letniego chłopca z dominującymi objawami pozapiramidowymi we wczesnym dzieciństwie i z zaburzeniami wzrastania.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2008, v. 14, n. 3, p. 199

By:

Górska, Anna;
Szczepański, Wojciech;
Urban, Mirosława;
Marcinowicz, Ludmiła

Publication type:

Article

Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.

Published in:

2020

By:

Chiu, Wei-Ching;
Chen, Shu-Huey;
Lo, Mei-Chen;
Kuo, Yung-Ting

Publication type:

journal article

New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2019, v. 36, n. 1, p. 29, doi. 10.5114/ada.2018.79440

By:

Junkiert-Czarnecka, Anna;
Pilarska-Deltow, Maria;
Bąk, Aneta;
Heise, Marta;
Haus, Olga

Publication type:

Article

Neurological manifestations of Ehlers-Danlos Syndrome.

Published in:

2005

By:

Mathew, T.;
Sinha, S.;
Taly, A. B.;
Arunodaya, G. R.;
Srikanth, S. G.

Publication type:

journal article

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 5, p. 469, doi. 10.1111/cge.12414

By:

Aldeeri, A.A.;
Alazami, A.M.;
Hijazi, H.;
Alzahrani, F.;
Alkuraya, F.S.

Publication type:

Article

Bilateral carotid artery dissection due to Eagle syndrome in a patient with vascular Ehlers-Danlos syndrome: a case report.

Published in:

2020

By:

Ikenouchi, Hajime;
Takagi, Masahito;
Nishimura, Ayako;
Yamaguchi, Eriko;
Koge, Junpei;
Saito, Kozue;
Toyoda, Kazunori;
Koga, Masatoshi

Publication type:

journal article

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations.

Published in:

British Journal of Dermatology, 2020, v. 182, n. 3, p. 698, doi. 10.1111/bjd.18165

By:

Angwin, C.;
Ghali, N.;
Baker, D.;
Brady, A.F.;
Pope, F.M.;
Vandersteen, A.;
Wagner, B.;
Ferguson, D.J.P.;
Dijk, F.S

Publication type:

Article

Vaskulárny Ehlersov-Danlosov syndróm (Sackov-Barabasov syndróm) - multiorganomultivaskulárna choroba.

Published in:

General Practitioner / Praktický Lékař, 2020, v. 100, n. 5, p. 215

By:

Gavornik, P.;
Dukát, A.;
Gašpar, Ľ.;
Gubo, G.;
Gajarová, N.

Publication type:

Article

Ligneous Periodontitis and Ehlers-Danlos Syndrome.

Published in:

Journal of Periodontology, 2006, v. 77, n. 1, p. 123, doi. 10.1902/jop.2006.77.1.123

By:

Pierro, Viviane S. S.;
Vazquez-Sullca, Ramon;
Barrôso Vieira, Áurea Simone;
Takiya, Christina Maeda;
Carakushansky, Gerson;
Feres-Filho, Eduardo J.

Publication type:

Article