Ehlers-Danlos syndrome, classical type

Bowen, Jessica M., Sobey, Glenda J., Burrows, Nigel P., Colombi, Marina, Lavallee, Mark E., Malfait, Fransiska, Francomano, Clair A.·2017·American Journal of Medical Genetics Part C: Seminars in Medical Genetics
DOI 10.1002/ajmg.c.31548

Cited by (183)

Items 101–183 of 183

  1. Clinical-DNA Correlates of Anxiety in Patients with Ehlers-Danlos Syndrome
    Golder N. Wilson, Vijay S. Tonk · 2024 · Open Journal of Psychiatry
  2. The need for primary care providers in the clinical management of hypermobility spectrum disorders and ehlers-danlos syndrome: a call to action
    William R. Black, Lora L. Black, Alana Goldstein‐Leever, Lisa S. Fox, Laura R. Pratt, Jordan T. Jones · 2024 · Rheumatology International
  3. Similar Ehlers–Danlos Syndrome Profiles Produced by Variants in Multiple Collagen Genes
    Sahil S. Tonk, Golder N. Wilson · 2025 · DNA
  4. Classification, nosology and diagnostics of Ehlers-Danlos syndrome
    Ben C.J. Hamel · 2019 · Journal of Biomedicine and Translational Research
  5. Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1
    Wei-Ching Chiu, Shu‐Huey Chen, Mei-Chen Lo, Huang-Tsung Kuo · 2020 · BMC Pediatrics
  6. Histopathological characterisation of molluscoid pseudotumour seen in Ehlers–Danlos syndrome
    Saira N. Agarwala, Farhaan Hafeez · 2021 · Histopathology
  7. Joint hypermobility in school-aged children and adolescents with idiopathic scoliosis – A chance for more accurate screening?
    Barbara Dobies-Krześniak, Beata Tarnacka, Agnieszka Werblińska · 2022 · Annals of Agricultural and Environmental Medicine
  8. Az Ehlers–Danlos-szindrómák korszerű osztályozása és multidiszciplináris tünettana
    Fanni Virág Ralovich, Norbert Kiss, Krisztina Horváth, Sarolta Kárpáti, Márta Medvecz · 2019 · Orvosi Hetilap
  9. A gene network implicated in the joint-muscle pain, brain fog, chronic fatigue, and bowel irregularity of Ehlers-Danlos and “long” COVID19 syndromes
    Golder N. Wilson · 2023 · medRxiv
  10. Síndrome de Ehlers-Danlos clásico: hallazgos clínicos y ecográficos
    Maria Herrero‐Moyano, Lucero Noguera‐Morel, Antonio Torrelo, Angela Hernández‐Martín · 2018 · Actas Dermo-Sifiliográficas
  11. Classic Physical Exam Findings in Ehlers-Danlos Syndrome
    Christian Robles‐Silva, Cristián Vera‐Kellet · 2023 · Journal of General Internal Medicine
  12. Skin Laxity Improvement With Microfocused Ultrasound in Classic Ehlers–Danlos Syndrome: A New Treatment Approach
    P.P.R. Cirilo, Emilly Neves Souza, L. Amaral de Moura · 2023 · Actas Dermo-Sifiliográficas
  13. Síndrome de Ehlers-Danlos: uma abordagem diagnóstica, evolução clínica e revisão
    Davi Rebello Misukami, Daniel Vieira Marques, Marina Pires Ferreira Da Silva, Bianca Andrade Ferreira, Sofia Nunes Pinto De Oliveira, Victoria Gutterres Loinaz, Taciana Arantes Borges, Júlia Rörig De Azevedo, Ana Carolina Lopes Martins, Rafaela da Silva Schottz · 2023 · Brazilian Journal of Health Review
  14. Bruising and bleeding
    Christina M. Laukaitis, Connie M. Piccone, Rohith Jesudas · 2024 · Elsevier eBooks
  15. Classical Ehlers-Danlos syndrome with cranio-cervical instability in an infant due to a novel COL5A1 gene mutation
    Haridharanee Thomas Paulraj, Balasubramaniyan Muthuvel, Vidhya Chinnasamy, Rajkumar Selvaraj · 2024 · BMJ Case Reports
  16. Collagen V Influences Homeostatic Maintenance of Patellar Tendon Failure Properties in Mature Female Mice
    Ryan J. Leiphart, Jeremy D. Eekhoff, Stephanie N. Weiss, Rebecca Betts, Jaclyn A. Carlson, Patrick L. Paglia‐Garcés, Nathaniel A. Dyment, David E. Birk, Louis J. Soslowsky · 2025 · Journal of Orthopaedic Research®
  17. Knockout of collagen V in development, but not in skeletal maturity, leads to long-term deficits in supraspinatus tendon mechanics in mice
    Jeremy D. Eekhoff, Mitchell J. Hallman, Michael S. DiStefano, Rebecca L. Betts, Courtney A. Nuss, Stephanie N. Weiss, Andrew F. Kuntz, Louis J. Soslowsky · 2025 · Journal of Biomechanics
  18. Associations Between Pain and Substance Use Among Individuals Diagnosed with Ehlers-Danlos Syndromes or Generalized Hypermobility Spectrum Disorder
    Callon M. Williams, Molly McCarthy, Michelle J. Flynn, Rachel Siegal, Stephanie Buryk-Iggers, Keisha C. Gobin, Dmitry Rozenberg, Maxim Rachinsky, Praveen Ganty, Laura McGillis et al. · 2025 · International Journal of Behavioral Medicine
  19. Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers–Danlos syndrome
    Anna Junkiert-Czarnecka, Karolina Maciak, Magdalena M. Kacprzak, Agnieszka Łobodzińska, Agnieszka Sobczyńska-Tomaszewska, Aneta Jurkiewicz, M. Góra, Beata Burzyńska, Maria Pilarska-Deltow, Olga Haus · 2025 · Frontiers in Genetics
  20. Bone phenotype in a mouse model of classical Ehlers-Danlos syndrome with Col5a1 haploinsufficiency
    Keren Machol, Catherine Glauber Ambrose, Deidre Meyers, Nadja Fratzl‐Zelman, Stéphane Blouin, Markus A. Hartmann, Urszula Polak, Barakat Ibrahim, Duncan Crosby, Oscar E. Ruiz et al. · 2026 · Journal of Bone and Mineral Research
  21. Case 39-2017
    Sarah V. Tsiaras, Lucy Michelle Safi, Brian Burns Ghoshhajra, Mark Evan Lindsay, Malissa J. Wood · 2017 · New England Journal of Medicine
  22. Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome
    Khalil I. Bourji, Mark C. Marchitto, Sumanth Kuppalli, Johnny Dang, Bupesh Dogra · 2019 · Cureus
  23. Hereditary Disorders of Collagen and Elastic Fibers
    Jürgen Brinckmann · 2022 · Springer eBooks
  24. An Unusual Cause of Arthrogryposis: A Case Report
    2022 · Journal of Medical Case Reports and Case Series
  25. Skeletal Dysplasias and Heritable Connective Tissue Disorders
    George E. Tiller, Gary A. Bellus · 2023 · Elsevier eBooks
  26. Introduction: An overview of the Ehlers-Danlos syndromes and hypermobility spectrum disorders
    Clair A. Francomano, Alan J. Hakim, Lansdale G.S. Henderson, Fraser C. Henderson · 2024 · Elsevier eBooks
  27. Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome
    Claire E. Green, Shadi Albaba, Glenda J. Sobey, Jessica M. Bowen, Deirdre E. Donnelly, Marina Colombi, Marco Ritelli, Athalie A. D. Melville, Neeti Ghali, Fleur Stephanie van Dijk et al. · 2025 · European Journal of Human Genetics
  28. Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study
    Anna V. Aghajanyan, Aleksandra Fučić, Tskhovrebova Lv, Olga Olegovna Gigani, Paško Konjevoda · 2018 · European Journal of Medical Genetics
  29. The Ehlers–Danlos Syndromes
    Bernadette A. Riley, Belinda Bombei · 2020 · Osteopathic Family Physician
  30. Cardiovascular Manifestations and Complications in Marfan, Loyes - Dietz, Ehlers - Danlos Syndromes
    Evgenia Leonidovna Trisvetova · 2021 · Кардиология в Беларуси
  31. Rheumatische Syndrome bei verschiedenen nichtrheumatischen Erkrankungen
    Christof Iking‐Konert, W.-J. Mayet, Stefan Kuchen, Josef Jenewein, S. Büchi, Henning K. Zeidler, Beat A. Michel · 2018 · Springer eBooks
  32. Structure-Mechanics Principles and Mechanobiology of Fibrocartilage Pericellular Matrix: A Pivotal Role of Type V Collagen
    Chao Wang, Mingyue Fan, Su-Jin Heo, Sheila M. Adams, Thomas Li, Yuchen Liu, Qing Li, Claudia Loebel, Farid Alisafaei, Jason A. Burdick et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  33. Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome
    Zachary DeBoard, Aaron Wesley Eckhauser, Eric R. Griffiths · 2017 · The Annals of Thoracic Surgery
  34. Review of neurological aspects in a 3-month-old boy with Ehlers-Danlos syndrome (EDS) – case report
    Anna Dobrucka-Głowacka, Ilona Anna Kopyta, Aleksandra Jezela‐Stanek · 2018 · Child Neurology
  35. Imagerie des cyphoses pathologiques
    C. Garreau de Loubresse, Guillaume Lonjon, Emmanuelle Ferrero · 2019
  36. Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings
    Maria Herrero‐Moyano, Lucero Noguera‐Morel, Antonio Torrelo, Angela Hernández‐Martín · 2019 · Actas Dermo-Sifiliográficas
  37. Hereditary Disorders of Collagen and Elastic Fibers
    Jürgen Brinckmann · 2019 · Springer eBooks
  38. Defects of enzymes and structural proteins
    2016 · Elsevier eBooks
  39. Living with the Ehlers-Danlos Syndromes (EDS)—The Patients’ Perspective
    Kay Julier · 2020 · Springer eBooks
  40. IMPACTO DA ALTERAÇÃO DO PROTOCOLO DE MORTE ENCEFÁLICA: DOAÇÃO DE ÓRGÃOS E TECIDOS EM SANTA CATARINA
    Marina Casagrande do Canto, Bruna Fernandes Scarpari, Giulia Benedetti Nery, Gabriela Vicência de Oliveira, Kristian Madeira · 2021
  41. PREVALÊNCIA DE LESÃO RENAL AGUDA EM UNIDADE DE TERAPIA INTENSIVA
    Fernanda de Castro Nascimento, Viviane Ferreira · 2021
  42. Skeletal muscle weakness and mitochondrial dysfunction in the osteogenesis imperfecta murine (oim) model
    Victoria L. Gremminger · 2021 · MOspace Institutional Repository (University of Missouri)
  43. Síndrome de Ehlers-Danlos cifoescoliótico-FKBP14 en una paciente adolescente: primer reporte de caso colombiano
    2019 · Archivos Argentinos de Pediatria
  44. Insights Into the Preclinical Models of SSc
    Yoshihide Asano · 2021 · Current Treatment Options in Rheumatology
  45. Novel mtDNA Imparts the Connective Tissue Disorder of a Tourette Pedigree
    Patrick M. Schaefer, Leonardo Scherer Alves, Maria Lvova, Jessica Y. Huang, Komal S. Rathi, Kevin A. Janssen, Arrienne Butic, Tal Yardeni, Ryan M. Morrow, Marie T. Lott et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  46. Überaus elastisch
    Tim Rasche, Johannes Kögler, Martin Mücke · 2018 · Elsevier eBooks
  47. Hereditäre Bindegewebserkrankungen
    Jürgen Brinckmann · 2017 · Springer eBooks
  48. Cifosis patológicas
    C. Garreau de Loubresse, Guillaume Lonjon, Emmanuelle Ferrero · 2020 · EMC - Aparato Locomotor
  49. Author reply
    Jérémy Hall · 2018 · The British Journal of Psychiatry
  50. Hereditäre Bindegewebserkrankungen
    Jürgen Brinckmann · 2018 · Springer eBooks
  51. Two surgical cases of pneumothorax associated with Ehlers-Danlos syndrome
    Risa Nishida, Tomoyuki Hishida, Kyohei Masai, Kaoru Kaseda, Katsura Emoto, Hisao Asamura · 2022 · The Journal of the Japanese Association for Chest Surgery
  52. Renal Infarction in Vascular Ehlers-Danlos Syndrome
    Hea Ran Lee, Si Chan Kim, Eun Hye Yang, Su Yun Jung, Jai Won Chang, Eun Kyoung Lee · 2022 · Korean Journal of Medicine
  53. Work-Up of Lower Extremity Swelling in a Patient With Ehlers-Danlos Syndrome
    Karim A. Zaazoue, Jacob M. Core, Ahmed Altan, Mohamed A. ElBoraey, Charles A. Ritchie · 2022 · Cureus
  54. Case report of Temporomandibular dysfunction and Hypermobility of joints in a patient with Collagenous gastritis
    Op Andersson · 2022
  55. Radiological Diagnosis of Ehlers- Danlos Syndrome in an Adolescent Girl with Chronic Musculoskeletal Symptoms -- A Case Report
    Jovaria Ehsan · 2023 · Juniper Online Journal of Case Studies
  56. The Benefits of Osteopathic Manipulative Treatment on a Patient With Ehlers-Danlos Syndrome
    Daniel Khokhar, Bethany R. Powers, Musaab Yamani, Michael A Edwards · 2023 · Cureus
  57. A Case of Repeated Injuries Leading to a Diagnosis of Classical Ehlers-Danlos Syndrome
    Airi Yamashita, Erika Guilpain Kusajima, Susumu Honda, Chu Kimura · 2023 · International Journal of Surgical Wound Care
  58. Poor wound healing
    Christina M. Laukaitis · 2024 · Elsevier eBooks
  59. Ehlers-Danlos syndrome: From bedside to bench
    2024 · Frontiers research topics
  60. Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
    Stefan J. Rietmann, Sarah Nowell, M. Kelly Keating, Cynthia Bauer, Vidhya Jagannathan, Tosso Leeb · 2024 · Animal Genetics
  61. Collagenopathies – The Ehlers-Danlos syndromes
    Fransiska Malfait · 2024 · Elsevier eBooks
  62. [Artículo traducido] Mejora de la laxitud de la piel con ultrasonido microfocalizado en el síndrome de Ehlers-Danlos clásico: un nuevo enfoque de tratamiento
    P.P.R. Cirilo, Emilly Neves Souza, L. Amaral de Moura · 2024 · Actas Dermo-Sifiliográficas
  63. Neurological presentation does not always mean a neurological diagnosis
    Saskia Woolgrove, Saad Ahmed, Kapil Garg, Peter J. Bale, Tom Walton · 2024 · Archives of Disease in Childhood Education & Practice
  64. Hypermobilität und Ehlers-Danlos-Syndrom
    Wolfgang Grotz, Sara Doll, Heinz Gabriel · 2024 · CME
  65. Bone Involvement in the Ehlers-Danlos Syndromes
    Fransiska Malfait, Delfien Syx, Yoshihiro Ishikawa · 2024 · Biology of extracellular matrix
  66. Hemorrhagic Infarct as a Rare Presentation of Vascular Ehlers-Danlos Syndrome in a 40-Year-Old Female: A Case Report
    Wahab Moustafa, Taranpreet Singh, Arzoo Siddiqi, Anoushka A Sehgal, Bismil Afghan · 2025 · Cureus · Retracted
  67. Genetics of Thoracic and Thoracoabdominal Aortic Dissections and Aneurysms
    J L de la Cruz Ríos, Gregory A. Magee · 2025 · Cardiology Clinics
  68. Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey
    Jamie Linnéa Luckhaus, Charlotta Ingvoldstad Malmgren, Pernilla Blom, Stephanie Juran, Maria Soller, Anna Kharko · 2025 · Research Square
  69. Parasympathetic and Sympathetic Nervous System Dysfunction and Monitoring
    Nicholas L. DePace, Stephen Soloway, Michael F. Yayac, Joe Colombo · 2025 · Springer eBooks
  70. Classical Ehlers-Danlos Syndrome
    Nicholas L. DePace, Stephen Soloway, Michael F. Yayac, Joe Colombo · 2025 · Springer eBooks
  71. Genetics of Thoracic and Thoracoabdominal Aortic Dissections and Aneurysms
    J L de la Cruz Ríos, Gregory A. Magee · 2025 · Heart Failure Clinics
  72. Lingual Frenectomy in 3–9-Year-Old Children Using Diode Laser: A Case Series
    Supriya H Solanke, Ashwin Muralidhar Jawdekar, Laresh Naresh Mistry, Swati Kale, Tanvi Saraf, Farheen Tafti · 2025 · Cureus
  73. Optimisation de la prise en charge par l'activité physique des patients atteints d'un syndrome d'Ehlers-Danlos hypermobile
    Adrien Hakimi · 2022 · theses.fr (ABES)
  74. Non-suicidal self-injury and suicide attempts among individuals seeking assessment for Ehlers-Danlos Syndromes
    Callon M. Williams, Rachel Siegal, Alisha Ratnasekera, Molly McCarthy, Michelle J. Flynn, Keisha C. Gobin, Laura McGillis, Nimish Mittal, Stephanie Buryk-Iggers, Tania Di Renna et al. · 2026 · Journal of Psychosomatic Research
  75. Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome
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  76. Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency
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  77. КЛАСИЧНИЙ СИНДРОМ ЕЛЕРСА-ДАНЛОСА ЯК ПРИЧИНА РЕЦИДИВНИХ ВЕНТРАЛЬНИХ ГРИЖ У МОЛОДОМУ ВІЦІ
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  78. Pain, Sleep Latency, and Mental and Physical Health in Individuals with Self-Reported Hypermobile Ehlers-Danlos Syndrome
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  79. EHLERS-DANLOS CLÁSSICO E HIPERMÓVEL:UMA REVISÃO SOBRE SÍNTESE DO COLÁGENO, SINTOMATOLOGIA E TRATAMENTO DA SÍNDROME
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  80. Inherited dentin defects with comorbidities
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  81. Pregnancy Outcomes in Women With Vascular Ehlers-Danlos Syndrome: A Systematic Review of Maternal and Fetal Complications
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  82. Isolated superior mesenteric artery dissection presenting as abdominal pain in a patient with ureteral carcinoma: a case report and literature review
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  83. Classical Ehlers–Danlos Syndrome (cEDS)
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