Results 21 to 30 of about 5,330 (203)

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved] [PDF]

Wellcome Open Research, 2018
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman   +50 more
doaj   +7 more sources

Small fiber neuropathy in hypermobile Ehlers Danlos syndrome/hypermobility spectrum disorder. [PDF]

J Intern Med, 2022
Fernandez A, Aubry-Rozier B, Vautey M, Berna C, Suter MR.   +4 more
europepmc   +3 more sources

Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care [PDF]

The Journal of the American Board of Family Medicine, 2021
Hypermobility spectrum disorders (HSDs) encompass an array of connective tissue disorders characterized by joint instability and chronic pain. Fatigue and other systemic symptoms that affect daily functioning may occur, as well. Accurate data on incidence and prevalence of HSDs is hampered by lack of awareness of these conditions and the wide ...
Karina, Atwell, William, Michael, Jared, Dubey, Sarah, James, Andrea, Martonffy, Scott, Anderson, Nathan, Rudin, Sarina, Schrager   +7 more
openaire   +2 more sources

Lipedema and Hypermobility Spectrum Disorders Sharing Pathophysiology: A Cross-Sectional Observational Study. [PDF]

J Clin Med
Background/Objectives: Lipedema is a chronic, progressive disorder of the adipo-fascial tissue characterized by abnormal subcutaneous fat accumulation, inflammation, fibrosis, pain, and edema. Despite its considerable impact on patients’ quality of life, it remains underdiagnosed.
Fiengo E, Sbarbati A.
europepmc   +4 more sources

Surgical management of glenohumeral instability in patients with Ehlers-Danlos syndrome/hypermobility spectrum disorder and their risk of reoperation [PDF]

JSES Reviews, Reports, and Techniques
Julia M Winschel, J Alex Albright, Edward J Testa   +2 more
exaly   +2 more sources

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

Therapeutic Advances in Gastroenterology, 2020
Abraham B Beckers, Lisa Vork, Asma Fikree   +2 more
exaly   +2 more sources

Hospital Stay Considerations in Hypermobile Ehlers-Danlos Syndrome: An Exemplary Case With Insights for Coexisting Symptoms

Annals of Internal Medicine: Clinical Cases, 2022
Ehlers-Danlos syndrome, hypermobility type, is a complex medical condition understood to be a genetic disorder resulting in abnormal collagen synthesis.
Jamie E. Clarke, Julio Santana, Efren C. Manjarrez   +2 more
doaj   +1 more source

THE DIFFERENTIAL DIAGNOSIS OF CHILDREN WITH JOINT HYPERMOBILITY: A REVIEW OF THE LITERATURE [PDF]

Romanian Journal of Pediatrics, 2009
Background. In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related ...
Louise J. Tofts, J. Elliott, Craig Munns, Verity Pacey, David O Sillence   +4 more
doaj   +3 more sources

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders

HGG Advances, 2022
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number.
Maribel Vazquez, Jack Chovanec, Jiwon Kim, Thomas DiMaggio, Joshua D. Milner, Clair A. Francomano, Christina A. Gurnett, Marco Ritelli, Marina Colombi, Jonathan J. Lyons   +9 more
doaj   +1 more source

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings [PDF]

, 2016
Background: To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Methods: Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through
Almqvist, C., Cederlof, M., Larsson, H., Lichtenstein, P., Ludvigsson, J.F., Serlachius, E.   +5 more
core   +7 more sources