المؤلفون: Tofts, Louise Jane¹ (AUTHOR), Simmonds, Jane^2,3 (AUTHOR), Schwartz, Sarah B.⁴ (AUTHOR), Richheimer, Roberto M.⁵ (AUTHOR), O'Connor, Constance⁴ (AUTHOR), Elias, Ellen^6,7 (AUTHOR), Engelbert, Raoul⁸ (AUTHOR), Cleary, Katie⁹ (AUTHOR), Tinkle, Brad T.¹⁰ (AUTHOR), Kline, Antonie D.¹¹ (AUTHOR), Hakim, Alan J.¹² (AUTHOR) alan.hakim@ehlers-danlos.com, van Rossum, Marion A. J.¹³ (AUTHOR), Pacey, Verity¹ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 5/4/2023, Vol. 18 Issue 1, p1-10. 10p.

مصطلحات موضوعية: *JOINT hypermobility, *EHLERS-Danlos syndrome, *MEDICAL research, *STANDARD deviations, *CLINICAL medicine, *BIOMARKERS, *CHILD patients

المؤلفون: Louise Jane Tofts, Jane Simmonds, Sarah B. Schwartz, Roberto M. Richheimer, Constance O’Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T. Tinkle, Antonie D. Kline, Alan J. Hakim, Marion A. J. van Rossum, Verity Pacey

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Child, Adolescent, Joint hypermobility, Ehlers–Danlos syndrome, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/20556d8ab88d4971b59a3dff2b005a3bTest

المؤلفون: Maarj, Muhammad, Pacey, Verity, Tofts, Louise, Clapham, Matthew, Garcia, Xavier Gironès, Coda, Andrea

المصدر: JMIR Pediatrics & Parenting; Oct-Dec2022, Vol. 5 Issue 4, p1-9, 9p

مصطلحات موضوعية: VISUAL analog scale, JOINT hypermobility, ACQUISITION of data, MOBILE health, EHLERS-Danlos syndrome

المؤلفون: Feldman, Estée C. H., Hivick, Daniel P., Slepian, P. Maxwell, Tran, Susan T., Chopra, Pradeep, Greenley, Rachel Neff

المصدر: Children; Sep2020, Vol. 7 Issue 9, p1-17, 17p

مصطلحات موضوعية: EHLERS-Danlos syndrome, CONNECTIVE tissue diseases, CHRONIC pain, PAIN management, QUALITY of life, JOINT hypermobility

المؤلفون: Lakshmi Mehta, Amy R Kontorovich, Anna Pace, Bruce D. Gelb, Rachel Colman, Tania Ruiz Maya, Anuj Malhotra

المصدر: American Journal of Medical Genetics Part A. 182:2902-2908

مصطلحات موضوعية: Adult, Joint Instability, Male, Nosology, Joint hypermobility, medicine.medical_specialty, Adolescent, Young Adult, Cervicogenic headache, Genetics, medicine, Cervical spondylosis, Humans, Genetics (clinical), Aged, Retrospective Studies, Neck pain, Neck Pain, business.industry, Headache, Syndrome, Middle Aged, Prognosis, medicine.disease, Dermatology, United States, Migraine, Ehlers–Danlos syndrome, Ehlers-Danlos Syndrome, Female, Headaches, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::504f03c50bb6d488a9133a640e20195cTest
https://doi.org/10.1002/ajmg.a.61873Test

المؤلفون: Erin Miller, John Grosel

المصدر: Journal of the American Academy of Physician Assistants. 33:23-28

مصطلحات موضوعية: Joint Instability, 0301 basic medicine, Joint hypermobility, medicine.medical_specialty, Adolescent, Genetic counseling, Connective tissue, Genetic Counseling, 030105 genetics & heredity, Nurse Assisting, 03 medical and health sciences, Humans, Medicine, Interdisciplinary communication, Skin hyperextensibility, Child, Referral and Consultation, business.industry, Joint instability, medicine.disease, Dermatology, 030104 developmental biology, medicine.anatomical_structure, Ehlers–Danlos syndrome, Mutation, Collagen metabolism, Ehlers-Danlos Syndrome, Female, Interdisciplinary Communication, Collagen, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661e622d7963c29ef1ffcadb47e698d9Test
https://doi.org/10.1097/01.jaa.0000657160.48246.91Test

المؤلفون: Sandy Ayoub, Cecilia Giunta, Tomoki Kosho, Glenda Sobey, Neeti Ghali, Duncan Baker, Stella Baffini, Fleur S van Dijk, Katherine Neas, Anthony Vandersteen, Frank Rutsch, Gloria Scarselli, Diana Johnson, Chloe Angwin, Angela F. Brady, Maria Luisa Giovannucci Uzielli, F. Michael Pope

المساهمون: University of Zurich, van Dijk, Fleur S

المصدر: American Journal of Medical Genetics Part A. 182:994-1007

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Joint hypermobility, 2716 Genetics (clinical), Pediatrics, medicine.medical_specialty, Connective Tissue Disorder, Adolescent, Hip Dislocations, 610 Medicine & health, 030105 genetics & heredity, Collagen Type I, Young Adult, 03 medical and health sciences, 1311 Genetics, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Lack of knowledge, Child, Hip Dislocation, Congenital, Genetics (clinical), Hip surgery, business.industry, Exons, Middle Aged, medicine.disease, Pedigree, Collagen Type I, alpha 1 Chain, Phenotype, 030104 developmental biology, 10036 Medical Clinic, Ehlers–Danlos syndrome, Child, Preschool, Mutation, Cohort, Skin Abnormalities, Ehlers-Danlos Syndrome, Female, Abnormality, business

وصف الملف: aEDS_2020_ajmg.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503a50661c23292f1207cd6954fcfd14Test
https://doi.org/10.1002/ajmg.a.61523Test

المؤلفون: Joyce So, Nimish Mittal, Hance Clarke, Louis W. C. Liu, Leslie Soever, Medha Soowamber, Arnon Adler, Peter Vadas, Dayna‐Lynn Nevay, Kieran Murphy, Maxwell P Slepian, Juan C. Guzman, Laura Hussey, Aliza Weinrib, Dmitry Rozenberg, Lindsay Wilson, Alyssa Franzese, Daniel Santa Mina, Scott Walsh, Yvonne Tse, Laura McGillis, Joel Katz, George S. Charames

المصدر: American Journal of Medical Genetics Part A. 182:484-492

مصطلحات موضوعية: Adult, Joint Instability, Male, 0301 basic medicine, Joint hypermobility, Pediatrics, medicine.medical_specialty, Adolescent, Prior diagnosis, Primary care, 030105 genetics & heredity, Cohort Studies, Young Adult, 03 medical and health sciences, Beighton score, Genetics, medicine, Humans, Genetics (clinical), Retrospective Studies, Retrospective review, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, 030104 developmental biology, Ehlers–Danlos syndrome, Cohort, Ehlers-Danlos Syndrome, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c845e270cbe4d71905eb0c1a0e77391cTest
https://doi.org/10.1002/ajmg.a.61459Test

المؤلفون: Antonio Novelli, Anthony Vandersteen, Paola Grammatico, Erina Sasaki, Fransiska Malfait, Maja Di Rocco, Cecilia Giunta, Nicoletta Zoppi, Silvia Morlino, Dario Cocciadiferro, Alessandro Ferraris, Tommaso Mazza, Annalisa Madeo, Marianne Rohrbach, Emanuele Agolini, Marco Ritelli, Marina Colombi, Lucia Micale, Alan Hakim, Marco Castori, Willie Reardon, Sara Mackay

المساهمون: University of Zurich, Micale, Lucia

المصدر: Clinical Genetics. 97:396-406

مصطلحات موضوعية: Male, 0301 basic medicine, Connective Tissue Disorder, COL1A1, COL1A2, osteogenesis imperfecta, 030105 genetics & heredity, joint hypermobility, Child, Connective Tissue Diseases, Ehlers-Danlos syndrome, skin and connective tissue diseases, Genetics (clinical), Genetics, integumentary system, Procollagen N-Endopeptidase, Middle Aged, Connective tissue disease, Phenotype, Connective Tissue, Osteogenesis imperfecta, Child, Preschool, Female, medicine.symptom, Adult, musculoskeletal diseases, Joint hypermobility, Heterozygote, 2716 Genetics (clinical), congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 610 Medicine & health, macromolecular substances, Biology, Short stature, Collagen Type I, Young Adult, 03 medical and health sciences, 1311 Genetics, medicine, Humans, Demography, Genetic Variation, Infant, medicine.disease, Collagen Type I, alpha 1 Chain, Procollagen peptidase, 030104 developmental biology, 10036 Medical Clinic, Ehlers–Danlos syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a7d623f49339c311450887a1e477b6Test
https://doi.org/10.1111/cge.13683Test

المؤلفون: Filiz Tuna, Oguzhan Doganlar, Derya Demirbağ Kabayel, Zeynep Banu Doğanlar, Hande Özdemir

المصدر: Connective Tissue Research. 62:215-225

مصطلحات موضوعية: Joint Instability, Joint hypermobility, Adolescent, Lithium (medication), 0206 medical engineering, 02 engineering and technology, Lithium, Bioinformatics, Biochemistry, Young Adult, 03 medical and health sciences, Rheumatology, Humans, Medicine, Orthopedics and Sports Medicine, Connective Tissue Diseases, Molecular Biology, 030304 developmental biology, 0303 health sciences, business.industry, Case-control study, Cell Biology, Peptidylprolyl Isomerase, Galactosyltransferases, medicine.disease, 020601 biomedical engineering, Zinc, Strontium, Feature (computer vision), Ehlers–Danlos syndrome, Case-Control Studies, Ehlers-Danlos Syndrome, Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c99e3cc85c19882aa75777008f75dc54Test
https://doi.org/10.1080/03008207.2019.1675648Test