Works matching DE "EHLERS-Danlos syndrome"

Results: 1289

Prevalence of Autoantibodies in Patients with Hereditary Alpha-Tryptasemia.

Published in:

International Archives of Allergy & Immunology, 2025, v. 186, n. 5, p. 484, doi. 10.1159/000541880

By:

Slapnicar, Calum;
Lee, Erika;
Vadas, Peter

Publication type:

Article

Association of postural orthostatic tachycardia syndrome, hypermobility spectrum disorders, and mast cell activation syndrome in young patients; prevalence, overlap and response to therapy depends on the definition.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1513199

By:

Yao, Lilian;
Subramaniam, Kavya;
Raja, Katherine M.;
Arunachalam, Abi;
Tran, Aubrey;
Pandey, Tripti;
Ravishankar, Sahana;
Suggala, Sahan;
Hendrickson, Caitlyn;
Maxwell, Andrew J.

Publication type:

Article

The Role of Intra-Follicular Shear Forces in Hidradenitis Suppurativa.

Published in:

Skin Pharmacology & Physiology, 2023, v. 36, n. 6, p. 302, doi. 10.1159/000536067

By:

Stancic, Bor Hrvatin;
Boer, Jurr;
Dolenc-Voljč, Mateja;
Jemec, Gregor B.E.

Publication type:

Article

Early detection and management of cerebral aneurysms.

Published in:

Patient Care (Print), 2006, v. 40, n. 11, p. 28

By:

Higashida, Randall T.;
Lee, Kiwon;
Ogilvy, Christopher S.

Publication type:

Article

A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.

Published in:

Heart & Vessels, 2008, v. 23, n. 2, p. 144, doi. 10.1007/s00380-007-1027-4

By:

Seung-Tae Lee;
Jee-Ah Kim;
Shin-Yi Jang;
Duk-Kyung Kim;
Jong-Won Kim;
Chang-Seok Ki

Publication type:

Article

Leveraging Digital Technology for Treatment of Young Patients with Congenital Conditions: A Clinical Report.

Published in:

Journal of Prosthodontics (John Wiley & Sons, Inc.), 2021, v. 30, p. 150, doi. 10.1111/jopr.13241

By:

Nguyen, Jennifer Pham;
Chandy, Tintu Sara;
Sparks, Janine;
Driscoll, Carl F.;
Masri, Radi

Publication type:

Article

Intracranial and extracranial MR angiography in occipital horn syndrome.

Published in:

2000

By:

Mentzel, H.-J.;
Seidel, J.;
Fitzek, C.;
Vogt, S.;
Zintl, F.;
Kaiser, W A

Publication type:

Case Study

Growing skull fracture in a child with Ehlers-Danlos syndrome: case report and literature review.

Published in:

Child's Nervous System, 2023, v. 39, n. 9, p. 2399, doi. 10.1007/s00381-023-06035-7

By:

Wanderley, Bianca Gomes;
Formentin, Cleiton;
de Castro Oliveira, Dayvid Leonardo;
Joaquim, Andrei Fernandes;
Raposo-Amaral, Cassio Eduardo;
Ghizoni, Enrico

Publication type:

Article

Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.

Published in:

Child's Nervous System, 2022, v. 38, n. 3, p. 659, doi. 10.1007/s00381-021-05232-6

By:

Yamada, Mamiko;
Arimitsu, Takeshi;
Suzuki, Hisato;
Miwa, Tomoru;
Kosaki, Kenjiro

Publication type:

Article

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Published in:

Child's Nervous System, 2020, v. 36, n. 10, p. 2229, doi. 10.1007/s00381-020-04758-5

By:

Ruggieri, Martino;
Polizzi, Agata;
Marceca, Gioacchino Paolo;
Catanzaro, Stefano;
Praticò, Andrea D.;
Di Rocco, Concezio

Publication type:

Article

Clinical variability in children with dolichoarteriopathies of the internal carotid artery.

Published in:

Child's Nervous System, 2020, v. 36, n. 3, p. 621, doi. 10.1007/s00381-019-04395-7

By:

Foiadelli, Thomas;
Ippolito, Rosario;
Corbetta, Riccardo;
Simoncelli, Anna Maria;
Amariti, Rossella;
Licari, Amelia;
Marseglia, Gianluigi;
Savasta, Salvatore

Publication type:

Article

A three-dimensional analysis of scoliosis progression in non-idiopathic scoliosis: is it similar to adolescent idiopathic scoliosis?

Published in:

Child's Nervous System, 2019, v. 35, n. 9, p. 1585, doi. 10.1007/s00381-019-04239-4

By:

Bachmann, Keith R.;
Yaszay, Burt;
Bartley, Carrie E.;
Bastrom, Tracey P.;
Reighard, Fredrick G.;
Upasani, Vidyadhar V.;
Newton, Peter O.

Publication type:

Article

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Published in:

2018

By:

Kobets, Andrew J.;
Komlos, Daniel;
Houten, John K.

Publication type:

Case Study

Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review.

Published in:

Digestive Surgery, 2017, v. 34, n. 2, p. 161, doi. 10.1159/000449106

By:

Kulas Søborg, Marie-Louise;
Leganger, Julie;
Rosenberg, Jacob;
Burcharth, Jakob

Publication type:

Article

Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome).

Published in:

Digestive Surgery, 2013, v. 29, n. 6, p. 453, doi. 10.1159/000346068

By:

Castori, Marco

Publication type:

Article

Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome).

Published in:: Digestive Surgery, 2013, v. 29, n. 6, p. 456, doi. 10.1159/000345998
Publication type:: Article

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review.

Published in:

Digestive Surgery, 2012, v. 29, n. 4, p. 349, doi. 10.1159/000343738

By:

Burcharth, Jakob;
Rosenberg, Jacob

Publication type:

Article

Mind the gaps: therapists' experiences of managing symptomatic hypermobility in Scotland.

Published in:

Rheumatology Advances in Practice, 2021, v. 5, n. 2, p. 1, doi. 10.1093/rap/rkab046

By:

Dockrell, Dervil M;
Berg, Kathryn M;
Ralston, Stuart H

Publication type:

Article

Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X).

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 8, p. 1, doi. 10.1210/jendso/bvaa077

By:

Cardenas, Stanley M Chen;
El-Kaissi, Samer;
Jarad, Ola;
Liaqat, Muneezeh;
Korbonits, Márta;
Hamrahian, Amir H

Publication type:

Article

Barriers to the Diagnosis, Care, and Management of Pediatric Patients With Ehlers-Danlos Syndrome in the United States: A Qualitative Analysis.

Published in:

Global Pediatric Health, 2023, p. 1, doi. 10.1177/2333794X231212081

By:

Black, William R.;
Black, Lora L.;
Jones, Jordan T.

Publication type:

Article

Provider Knowledge and Experience in Care, Management, and Education of Pediatric Ehlers-Danlos syndrome.

Published in:

Global Pediatric Health, 2022, p. 1, doi. 10.1177/2333794X221112841

By:

Jones, Jordan T.;
Black, William R.

Publication type:

Article

Cutaneous asthenia (Ehlers--Danlos syndrome) in a cat.

Published in:

Turkish Journal of Veterinary & Animal Sciences, 2013, v. 37, n. 2, p. 245, doi. 10.3906/vet-1203-64

By:

DOKUZEYLÜL, Banu;
ALTUN, Elif Demet;
ÖZDOĞAN, Tamer Halit;
BOZKURT, Hasan Hakan;
ARUN, Seçkin Serdar;
R., Mehmet Erman O.

Publication type:

Article

ОТКРИТОЪГЪЛНА ГЛАУКОМА ПРИ ПАЦИЕНТ СЪС СИНДРОМ НА EHLERS-DANLOS ТИП IV

Published in:

General Medicine / Obsta Medicina, 2025, v. 27, n. 1, p. 16

By:

Стоянова, Н.;
Стоянов, Д.;
Петров, П.

Publication type:

Article

REPLY TO LETTER.

Published in:

2004

By:

Hagberg, Catharina

Publication type:

Letter

Prevalence of temporomandibular joint dysfunction in Ehlers-Danlos syndromes.

Published in:

2004

By:

De Coster, Peter J.;
Martens, Luc C.;
Van De Berghe, Linda;
Van den Berghe, Linda

Publication type:

commentary

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

CLINICAL RESEARCH Temporomandibular joint problems and self-registration of mandibular opening capacity among adults with Ehlers-Danlos syndrome. A questionnaire study.

Published in:

Orthodontics & Craniofacial Research, 2004, v. 7, n. 1, p. 40, doi. 10.1046/j.1601-6335.2003.00269.x

By:

Hagberg, C.;
Korpe, L.;
Berglund, B.

Publication type:

Article

My Dog's Cheeks: A PBL Project an Collagen for Cell Biology and Genetics Courses.

Published in:

Biochemistry & Molecular Biology Education, 2010, v. 38, n. 6, p. 410, doi. 10.1002/bmb.20411

By:

Casla, Alberto Vicario;
Zubiaga, Isabel Smith

Publication type:

Article

Ocular involvement in rheumatic diseases.

Published in:

Rheumatology / Reumatologia, 2023, v. 61, n. 5, p. 389, doi. 10.5114/reum/172767

By:

Dankiewicz-Fares, Iwona;
Jeka, Daniel;
Barczyńska, Tacjana

Publication type:

Article

A case of coexistence of Marfan and Ehlers-Danlos syndromes in a 15-year-old boy.

Published in:

2014

By:

Swacha, Zbigniew;
Rutkowska-Sak, Lidia;
Gazda, Agnieszka

Publication type:

Case Study

Women with Ehlers-Danlos Syndrome Experience Low Oral Health-Related Quality of Life.

Published in:

Journal of Orofacial Pain, 2012, v. 26, n. 4, p. 307

By:

Berglund, Britta;
Björck, Erik

Publication type:

Article

Dental Implants in Patients with Ehlers-Danlos Syndrome: A Case Series Study.

Published in:

International Journal of Prosthodontics, 2012, v. 25, n. 1, p. 60

By:

Jensen, Janicke Liaaen;
Storhaug, Kari

Publication type:

Article

Social media use by patients with hypermobile Ehlers–Danlos syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2467

By:

Halverson, Colin M. E.;
Doyle, Tom A.;
Vershaw, Samantha

Publication type:

Article

Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome.

Published in:

2023

By:

Heo, Won Young;
Jang, Shin Yi;
Park, Taek Kyu;
Ki, Chang‐Seok;
Kim, Jong‐Won;
Kim, Duk‐Kyung;
Jang, Ja‐Hyun

Publication type:

Case Study

Resource utilization and multidisciplinary care needs for patients with Ehlers–Danlos syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 11, p. 1, doi. 10.1002/mgg3.2057

By:

Jones, Jordan T.;
Black, William R.;
Cogan, Wendy;
Callen, Elisabeth

Publication type:

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

A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1753

By:

Ruscitti, Federica;
Trevisan, Lucia;
Rosti, Giulia;
Gotta, Fabio;
Cianflone, Annalia;
Geroldi, Alessandro;
Origone, Paola;
Pichiecchio, Anna;
Viglio, Simona;
Iascone, Maria;
Mandich, Paola

Publication type:

Article

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1632

By:

Ma, Na;
Zhu, Zhenhua;
Liu, Jing;
Peng, Ying;
Zhao, Xiaomeng;
Tang, Weiling;
Jia, Zhengjun;
Xi, Hui;
Gao, Bodi;
Wang, Hua;
Du, Juan

Publication type:

Article

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1556

By:

Lao, Qizong;
Mallappa, Ashwini;
Rueda Faucz, Fabio;
Joyal, Elizabeth;
Veeraraghavan, Padmasree;
Chen, Wuyan;
Merke, Deborah P.

Publication type:

Article

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1422

By:

Ritelli, Marco;
Cinquina, Valeria;
Venturini, Marina;
Colombi, Marina

Publication type:

Article

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1197

By:

Lautrup, Charlotte K.;
Teik, Keng W.;
Unzaki, Ai;
Mizumoto, Shuji;
Syx, Delfien;
Sin, Heng H.;
Nielsen, Irene K.;
Markholt, Sara;
Yamada, Shuhei;
Malfait, Fransiska;
Matsumoto, Naomichi;
Miyake, Noriko;
Kosho, Tomoki

Publication type:

Article

Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.964

By:

Barbitoff, Yury A.;
Skitchenko, Rostislav K.;
Poleshchuk, Olga I.;
Shikov, Anton E.;
Serebryakova, Elena A.;
Nasykhova, Yulia A.;
Polev, Dmitrii E.;
Shuvalova, Anna R.;
Shcherbakova, Irina V.;
Fedyakov, Mikhail A.;
Glotov, Oleg S.;
Glotov, Andrey S.;
Predeus, Alexander V.

Publication type:

Article

Quality improvement of clinic flow for complex genetic conditions: Using Ehlers–Danlos syndrome as a model.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 993, doi. 10.1002/mgg3.472

By:

Prakash, Preeti;
Eble, Tanya N.;
Dhar, Shweta U.

Publication type:

Article

Vascular Ehlers-Danlos syndrome – case report.

Published in:

Cardiologia Croatica, 2021, v. 16, n. 1/2, p. 74, doi. 10.15836/ccar2021.74

By:

Slišković, Ana Marija;
Šutalo, Ana;
Frković, Sanda Huljev;
Gregorek, Andrea Crkvenac;
Banfić, Ljiljana;
Kirhmajer, Majda Vrkić

Publication type:

Article

Do collagen‐related diseases represent a risk factor for hidradenitis suppurativa?

Published in:

Experimental Dermatology, 2021, v. 30, n. 6, p. 872, doi. 10.1111/exd.14290

By:

Benhadou, Farida;
Guillem, Philippe

Publication type:

Article

A new COL3A1 mutation in Ehlers- Danlos syndrome type IV.

Published in:

Experimental Dermatology, 2013, v. 22, n. 3, p. 231, doi. 10.1111/exd.12105

By:

Eder, Johanna;
Laccone, Franco;
Rohrbach, Marianne;
Giunta, Cecilia;
Aumayr, Klaus;
Reichel, Christofer;
Trautinger, Franz

Publication type:

Article

A case of mosaic Ehlers-Danlos syndrome.

Published in:

Australasian Journal of Dermatology, 2012, v. 53, n. 4, p. 278, doi. 10.1111/j.1440-0960.2011.00869.x

By:

Lamrock, Edwina;
Wills, Edward;
Fischer, Gayle

Publication type:

Article

Ehlers-Danlos syndrome Type II: Importance of recognition.

Published in:

Australasian Journal of Dermatology, 1995, v. 36, n. 3, p. 153, doi. 10.1111/j.1440-0960.1995.tb00958.x

By:

Stanford, Duncan G.;
Georgouras, Katherine E.

Publication type:

Article

Hypersensitivity of myelinated A-fibers via toll-like receptor 5 promotes mechanical allodynia in tenascin-X-deficient mice associated with Ehlers–Danlos syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45638-7

By:

Kamada, Hiroki;
Emura, Kousuke;
Yamamoto, Rikuto;
Kawahara, Koichi;
Uto, Sadahito;
Minami, Toshiaki;
Ito, Seiji;
Matsumoto, Ken-ichi;
Okuda-Ashitaka, Emiko

Publication type:

Article

Aspects on dental hard tissues in primary teeth from patients with Ehlers–Danlos syndrome.

Published in:

International Journal of Paediatric Dentistry, 2009, v. 19, n. 4, p. 282, doi. 10.1111/j.1365-263X.2009.00970.x

By:

KLINGBERG, GUNILLA;
HAGBERG, CATHARINA;
NORÉN, JÖRGEN G.;
NIETZSCHE, SANDOR

Publication type:

Article