Works matching Ehlers-Danlos syndrome

Results: 2221

An Exploration of Quality of Life among Ontario Postsecondary Students Living with the Chronic Illness Ehlers-Danlos Syndrome.

Published in:

Canadian Journal for the Scholarship of Teaching & Learning, 2020, v. 11, n. 1, p. 1, doi. 10.5206/cjsotl-rcacea.2020.1.10766

By:

Giroux, Catherine M.;
Carter, Lorraine;
Corkett, Julie

Publication type:

Article

Manejo odontológico de pacientes con el síndrome de Ehlers-Danlos. Revisión narrativa.

Published in:

Revista de la Asociación Odontológica Argentina, 2023, v. 111, n. 2, p. 1, doi. 10.52979/raoa.1110851.1213

By:

Cancino González, Javiera;
Gutiérrez, Sergio;
Fonseca Escobar, Diego

Publication type:

Article

Ehlers–Danlos syndrome: correlation with headache disorders in a young woman.

Published in:

Journal of Headache & Pain, 2005, v. 6, n. 6, p. 474, doi. 10.1007/s10194-005-0256-0

By:

Di Palma, F.;
Cronin, A. H.

Publication type:

Article

Surgical and medical treatment of ocular disease in a dog with Ehlers-Danlos syndrome.

Published in:

Clinical Case Reports, 2017, v. 5, n. 6, p. 880, doi. 10.1002/ccr3.953

By:

Rasch, Søren N.

Publication type:

Article

Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 20, doi. 10.1111/cge.14026

By:

Scicluna, Kirsty;
Formosa, Melissa M.;
Farrugia, Rosienne;
Borg, Isabella

Publication type:

Article

Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

Published in:

2017

By:

Sundelin, Heléne E. K.;
Stephansson, Olof;
Johansson, Kari;
Ludvigsson, Jonas F.

Publication type:

journal 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

Sudden and Unexpected Death in Three Cases of Ehlers-Danlos Syndrome Type IV Sudden and Unexpected Death in Three Cases of Ehlers-Danlos Syndrome Type IV SHIELDS ET AL. SUDDEN DEATH IN EHLERS-DANLOS TYPE IV.

Published in:

Journal of Forensic Sciences, 2010, v. 55, n. 6, p. 1641, doi. 10.1111/j.1556-4029.2010.01521.x

By:

Shields, Lisa B.E.;
Rolf, Cristin M.;
Davis, Gregory J.;
Hunsaker III, John C.

Publication type:

Article

Bone involvement in adult patients affected with Ehlers-Danlos syndrome.

Published in:

Osteoporosis International, 2016, v. 27, n. 8, p. 2525, doi. 10.1007/s00198-016-3562-2

By:

Eller-Vainicher, C.;
Bassotti, A.;
Imeraj, A.;
Cairoli, E.;
Ulivieri, F.;
Cortini, F.;
Dubini, M.;
Marinelli, B.;
Spada, A.;
Chiodini, I.

Publication type:

Article

Ehlers-Danlos syndrome: a case report.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2022, n. 2, p. 57, doi. 10.31288/oftalmolzh202225762

By:

Umanets, M. M.;
Zborovska, O. V.;
Dorokhova, O. E.;
Kogan, M. L.

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

Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.

Published in:

Vascular & Endovascular Surgery, 2018, v. 52, n. 2, p. 138, doi. 10.1177/1538574417745432

By:

Gu, Guangchao;
Yang, Hang;
Cui, Lijia;
Fu, Yuanyuan;
Li, Fangda;
Zhou, Zhou;
Zheng, Yuehong

Publication type:

Article

Spontaneous Splenic Rupture in Vascular Ehlers-Danlos Syndrome.

Published in:

Vascular & Endovascular Surgery, 2015, v. 49, n. 5/6, p. 152, doi. 10.1177/1538574415602783

By:

Batagini, Nayara Cioffi;
Gornik, Heather;
Kirksey, Lee

Publication type:

Article

Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.

Published in:

2019

By:

Gröbner, Rebekka;
Kapferer-Seebacher, Ines;
Amberger, Albert;
Redolfi, Rita;
Dalonneau, Fabien;
Björck, Erik;
Milnes, Di;
Bally, Isabelle;
Rossi, Veronique;
Thielens, Nicole;
Stoiber, Heribert;
Gaboriaud, Christine;
Zschocke, Johannes

Publication type:

Correction Notice

Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl.

Published in:

European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 214, doi. 10.1007/s00431-004-1407-z

By:

Brunk, Irene;
Stö ver, Brigitte;
Ikonomidou, Chrysanthy;
Brinckmann, Jürgen;
Neumann, Luitgard M.

Publication type:

Article

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Published in:

Genes, 2019, v. 10, n. 12, p. 967, doi. 10.3390/genes10120967

By:

Micale, Lucia;
Guarnieri, Vito;
Augello, Bartolomeo;
Palumbo, Orazio;
Agolini, Emanuele;
Sofia, Valentina Maria;
Mazza, Tommaso;
Novelli, Antonio;
Carella, Massimo;
Castori, Marco

Publication type:

Article

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.

Published in:

Genes, 2019, v. 10, n. 2, p. 135, doi. 10.3390/genes10020135

By:

Ritelli, Marco;
Cinquina, Valeria;
Venturini, Marina;
Pezzaioli, Letizia;
Formenti, Anna Maria;
Chiarelli, Nicola;
Colombi, Marina

Publication type:

Article

Anaesthetic and intensive care management of a patient with Ehlers–Danlos Type IV syndrome after laparotomy.

Published in:

Anaesthesia, 2004, v. 59, n. 12, p. 1224, doi. 10.1111/j.1365-2044.2004.03959.x

By:

Solan, K.;
Davies, P.

Publication type:

Article

Successful Conservative Management of a Rare Surgical Complication of Vascular Ehlers-Danlos Syndrome: A Case Report.

Published in:

Permanente Journal, 2021, v. 25, n. 3, p. 1, doi. 10.7812/TPP/21.021

By:

Mangiameli, Giuseppe;
Zreibi, Charles Al;
Ammar, Abderrahmen;
Arame, Alex;
Pimpec-Barthes, Françoise Le

Publication type:

Article

Management of Spontaneous Liver Hematoma in Ehlers-Danlos Syndrome Type IV: A Case Report.

Published in:

Permanente Journal, 2020, v. 24, n. 5, p. 147, doi. 10.7812/tpp/19.216

By:

Imp, Brandon;
Mannarino, Samuel;
Narayanan, Anand

Publication type:

Article

Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series.

Published in:

2019

By:

Gami, Abhishek;
Singman, Eric L.

Publication type:

journal article

Vascular Ehlers‐Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report).

Published in:

2024

By:

Subramaniam, Shreenidhi Ranganatha;
Yeung, Lam Fung;
Choy, L. Y. Lois;
Kwok, Jeffrey Sung Shing

Publication type:

Case Study

Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Published in:

2022

By:

Strang‐Karlsson, Sonja;
Keigwin, Sylvia;
Anttonen, Anna‐Kaisa;
Baker, Duncan;
Bean, Kerry;
Jakkula, Eveliina

Publication type:

Case Study

Hypermobile type Ehlers‐Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case‐based review on new classification, diagnosis, and multidisciplinary management.

Published in:

Clinical Case Reports, 2019, v. 7, n. 4, p. 680, doi. 10.1002/ccr3.2070

By:

Zhang, Wei;
Windsor, Kevin;
Jones, Richard;
Taunton, David Oscar

Publication type:

Article

Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care.

Published in:

2018

By:

Wardeh, Amr;
Jackson, Tyson;
Nelson, Beverly;
Ernst, Carl;
Théroux, Jean‐François;
Al‐Hertani, Walla;
Sobering, Andrew K.;
Maj, Mary C.

Publication type:

Case Study

Hypermobile Ehlers-Danlos Syndrome during pregnancy, birth and beyond.

Published in:

British Journal of Midwifery, 2018, v. 26, n. 4, p. 217, doi. 10.12968/bjom.2018.26.4.217

By:

Pezaro, Sally;
Pearce, Gemma;
Reinhold, Emma

Publication type:

Article

Giant cephalhematoma following minor head injury in a patient with Ehlers-Danlos Syndrome: A case report and literature review.

Published in:

2024

By:

BEJKO, Ervina;
ALTARAWNEH, Mohammad;
AL-DWAIRY, Salem

Publication type:

Case Study

The Language of Pain in the Hypermobile Ehlers–Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool.

Published in:

Brain Sciences (2076-3425), 2023, v. 13, n. 7, p. 1042, doi. 10.3390/brainsci13071042

By:

Camerota, Filippo;
Mariani, Rachele;
Cordiano, Giulia;
Di Trani, Michela;
Lodato, Valentina;
Ferraris, Alessandro;
Pasquini, Massimo;
Celletti, Claudia

Publication type:

Article

Editorial: Ehlers-Danlos syndrome: from bedside to bench.

Published in:

Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1399386

By:

Tomoki Kosho;
Shujiro Hayashi;
Ken-ichi Matsumoto;
Syx, Delfien;
Kaur, Anupriya

Publication type:

Article

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1246712

By:

Xianda Wei;
Xu Zhou;
BoBo Xie;
Meizhen Shi;
Chunrong Gui;
Bo Liu;
Caiyan Li;
Chi Zhang;
Jiefeng Luo;
Cundong Mi;
Baoheng Gui

Publication type:

Article

Multiple odontogenic keratocysts in Ehlers–Danlos syndrome: a rare case report.

Published in:

BMC Oral Health, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12903-021-01472-9

By:

Starzyńska, Anna;
Adamska, Paulina;
Adamski, Łukasz;
Sejda, Aleksandra;
Wychowański, Piotr;
Studniarek, Michał;
Jereczek-Fossa, Barbara Alicja

Publication type:

Article

Occlusive vascular Ehlers–Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.

Published in:

Surgery Today, 2013, v. 43, n. 12, p. 1467, doi. 10.1007/s00595-012-0355-x

By:

Sa, Young Jo;
Kim, Young Du;
Moon, Seok-Whan;
Kim, Chi-Kyung;
Ki, Chang Seok

Publication type:

Article

Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene.

Published in:

2023

By:

Horino, Taichi;
Miyamoto, Yuji;
Ohuchi, Mayuko;
Ogawa, Katsuhiro;
Yoshida, Naoya;
Ishiko, Takatoshi;
Kukinaka, Chieko;
Sasaki, Rumi;
Ohba, Takashi;
Baba, Hideo

Publication type:

Case Study

A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers–Danlos hypermobile syndrome.

Published in:

Advances in Clinical & Experimental Medicine, 2023, v. 32, n. 7, p. 777, doi. 10.17219/acem/158028

By:

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

Publication type:

Article

Familial gigantiform cementoma with Ehlers - Danlos syndrome: A report of 2 cases.

Published in:

2015

By:

Şakar, Olcay;
Aren, Gamze;
Mumcu, Zeynep;
Ünalan, Fatma;
Aksakallı, Nihan;
Tolgay, Ceren Güney

Publication type:

Case Study

Ehlers-Danlos Syndrome--Hypermobility Type: A Much Neglected Multisystemic Disorder.

Published in:

Rambam Maimonides Medical Journal, 2016, v. 7, n. 4, p. 1, doi. 10.5041/RMMJ.10261

By:

Gazit, Yael;
Jacob, Giris;
Grahame, Rodney

Publication type:

Article

Recognizing and treating Ehlers-Danlos syndrome(s): the need for a multidisciplinary approach.

Published in:

Panamerican Journal of Neuropsychology / Cuadernos de Neuropsicología, 2016, v. 10, p. 95, doi. 10.7714/CNPS/10.4.207

By:

Morlino, Silvia;
Piedimonte, Caterina;
Castori, Marco

Publication type:

Article

Multiple dermatofibromas in a patient with Ehlers–Danlos syndrome: a case report.

Published in:

2024

By:

Mohaghegh, Fatemeh;
Bahraminejad, Mahsa;
Talebzadeh, Zahra;
Tabatabaei, Elham Tavousi

Publication type:

Case Study

Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 206, doi. 10.1111/cge.13972

By:

El Chehadeh, Salima;
Legrand, Anne;
Stoetzel, Corinne;
Geoffroy, Véronique;
Billon, Clarisse;
Adham, Salma;
Jeunemaître, Xavier;
Jaussaud, Roland;
Muller, Jean;
Schaefer, Elise;
Benistan, Karelle;
Gaertner, Sébastien;
Bloch‐Zupan, Agnès;
Courval, Aymeric;
Manière, Marie‐Cécile;
Petit, Catherine;
Bursztejn, Anne‐Claire;
Bal, Laurence;
Reyre, Anthony;
Chammas, Agathe

Publication type:

Article

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 411, doi. 10.1111/cge.12853

By:

Demirdas, S.;
Dulfer, E.;
Robert, L.;
Kempers, M.;
van Beek, D.;
Micha, D.;
van Engelen, B.G.;
Hamel, B.;
Schalkwijk, J.;
Loeys, B.;
Maugeri, A.;
Voermans, N.C.

Publication type:

Article

The successful use of recombinant factor VIIa in a patient with vascular-type Ehlers-Danlos syndrome.

Published in:

2007

By:

Faber, P.;
Craig, W. L.;
Duncan, J. L.;
Holliday, K.

Publication type:

journal article

Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons.

Published in:

Journal of Orthopaedic Research, 2017, v. 35, n. 12, p. 2707, doi. 10.1002/jor.23571

By:

Johnston, Jessica M.;
Connizzo, Brianne K.;
Shetye, Snehal S.;
Robinson, Kelsey A.;
Huegel, Julianne;
Rodriguez, Ashley B.;
Sun, Mei;
Adams, Sheila M.;
Birk, David E.;
Soslowsky, Louis J.

Publication type:

Article

Vascular complications in Ehlers-Danlos syndrome type IV -- case report.

Published in:

Acta Angiologica, 2015, v. 21, n. 2, p. 61, doi. 10.5603/AA.2015.0012

By:

Grygie, Katarzyna;
Jedrasik, Maciej;
Allah Poor, Hamid Feiz;
Nazarewski, Slawomir;
Szmidt, Jacek

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

Central sensitization in adolescents with generalized hypermobility spectrum disorder or hypermobile ehlers-danlos syndrome -A feasibility study.

Published in:

Pain Practice, 2022, v. 22, p. 20, doi. 10.1111/papr.13128

By:

Schubert-Hjalmarsson, E.;
Fasth, A.;
Ickmans, K.;
Mårdbrink, E. L.;
Söderpalm, A. C.;
Lundberg, M.

Publication type:

Article

Ehlers–Danlos syndrome type IV: a case report of a rare cause of spontaneous sigmoid perforation and enteroatmospheric fistulae in a child.

Published in:

Surgical Case Reports, 2020, v. 6, n. 1, p. 1, doi. 10.1186/s40792-020-01051-0

By:

Kodikara, Hemal;
King, Sebastian K.;
McLeod, Elizabeth

Publication type:

Article

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

Published in:

Pediatrics International, 2016, v. 58, n. 2, p. 88, doi. 10.1111/ped.12878

By:

Kosho, Tomoki

Publication type:

Article

The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2023, v. 40, n. 1, p. 102, doi. 10.5114/ada.2022.124107

By:

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

Publication type:

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

Marathon of eponyms: 5 Ehlers–Danlos syndrome.

Published in:

Oral Diseases, 2009, v. 15, n. 7, p. 517, doi. 10.1111/j.1601-0825.2009.01537.x

By:

Scully, C;
Langdon, J;
Evans, J

Publication type:

Article