The Ehlers‐Danlos Syndrome

Steinmann, Beat, Royce, Peter M., Superti‐Furga, Andrea·2002·Connective Tissue and Its Heritable Disorders

Cited by (360)

Items 101–200 of 360

  1. Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers–Danlos syndrome hypermobility type
    Chiara Rigoldi, Verônica Cimolin, Filippo Camerota, Claudia Celletti, Giorgio Albertini, Luca Tommaso Mainardi, Manuela Galli · 2012 · Research in Developmental Disabilities
  2. Zinc signal: a new player in osteobiology
    Toshiyuki Fukada, Shintaro Hojyo, Tatsuya Furuichi · 2012 · Journal of Bone and Mineral Metabolism
  3. Homocysteine decreases chondrocyte-mediated matrix mineralization in differentiating chick limb-bud mesenchymal cell micro-mass cultures
    Mohammad Badruzzaman Khan, M. Yamauchi, Sirivimol Srisawasdi, Dalina Stiner, Stephen B. Doty, Eleftherios P. Paschalis, Adele L. Boskey · 2001 · Bone
  4. Inherited diseases and syndromes leading to aortic aneurysms and dissections
    Ahmet Okay Çağlayan, Munis Dündar · 2009 · European Journal of Cardio-Thoracic Surgery
  5. The kyphoscoliotic type of Ehlers–Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine
    David R. Eyre, Ping Shao, Mary Ann Weis, Beat U. Steinmann · 2002 · Molecular Genetics and Metabolism
  6. Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management
    Roberto Pinna, Fabio Cocco, Guglielmo Campus, Giulio Conti, Egle Patrizia Milia, Andrea Sardella, Maria Grazia Cagetti · 2019 · Periodontology 2000
  7. Ehlers-Danlos syndromes
    Neeti Ghali, Glenda J. Sobey, Nigel Burrows · 2019 · BMJ
  8. Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization
    Fraser C. Henderson, Clair A. Francomano, Myles B. Koby, Kelly Tuchman, Jessica Young Adcock, Sunil J. Patel · 2019 · Neurosurgical Review
  9. Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin‐X mutations
    Manon C. Zweers, W B Dean, Toin H. Van Kuppevelt, James D Bristow, Joost Schalkwijk · 2005 · Clinical Genetics
  10. Gait strategy in patients with Ehlers–Danlos syndrome hypermobility type: A kinematic and kinetic evaluation using 3D gait analysis
    Manuela Galli, Verônica Cimolin, Chiara Rigoldi, Marco Castori, Claudia Celletti, Giorgio Albertini, Filippo Camerota · 2011 · Research in Developmental Disabilities
  11. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
    Julie F A De Backer, Bart Loeys, Bart Peter Leroy, Paul J. Coucke, Harry C. Dietz, Anne De Paepe · 2007 · Clinical Genetics
  12. Low- and high-anxious hypermobile Ehlers–Danlos syndrome patients: comparison of psychosocial and health variables
    Baeza-Velasco, Carolina, Bourdon, Caroline, Montalescot, Lucile, de Cazotte, Cécile, Pailhez, Guillem, Bulbena, Antonio, Hamonet, Claude · 2018 · Rheumatology International
  13. Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience
    Alomari, Mohammad, Hitawala, Asif, Chadalavada, Pravallika, Covut, Fahrettin, Al Momani, Laith, Khazaaleh, Shrouq, Gosai, Falgun, Al Ashi, Suleiman, Abushahin, Ashraf, Schneider, Alison · 2020 · Cureus
  14. CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome
    Kosho, Tomoki · 2016 · Pediatrics International
  15. Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies
    Nicol Cornelia Voermans, Carsten G. Bönnemann, Ben C.J. Hamel, Heinz Jungbluth, Baziel G.M. van Engelen · 2009 · Journal of Neurology
  16. The Vascular Type of Ehlers-Danlos Syndrome
    Atsushi Watanabe, Takashi Shimada · 2008 · Journal of Nippon Medical School
  17. Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
    Kosho, Tomoki, Takahashi, Jun, Ohashi, Hirofumi, Nishimura, Gen, Kato, Hiroyuki, Fukushima, Yoshimitsu · 2005 · American Journal of Medical Genetics Part A
  18. High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome
    Gherardo Mazziotti, Chiara Dordoni, Mauro Doga, F. Galderisi, Marina Venturini, Piergiacomo Calzavara‐Pinton, Roberto Maroldi, A. Giustina, Marina Colombi · 2015 · Bone
  19. Complete Chorioamniotic Membrane Separation
    Liesbeth Lewi, Myriam Hanssens, Bernard Spitz, Jan A. Deprest · 2003 · Fetal Diagnosis and Therapy
  20. Extracellular Matrix (ECM) Molecules
    Jasvir Kaur, Dieter Peter Reinhardt · 2014 · Elsevier eBooks
  21. Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study
    Gaisl, Thomas, Giunta, Cecilia, Bratton, Daniel J, Sutherland, Kate, Schlatzer, Christian, Sievi, Noriane, Franzen, Daniel, Cistulli, Peter A, Rohrbach, Marianne, Kohler, Malcolm · 2017 · Thorax
  22. Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives
    Castori, Marco · 2016 · Expert Opinion on Orphan Drugs
  23. A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers–Danlos syndrome, hypermobility type
    Francesca Puledda, Alessandro Viganò, Claudia Celletti, Barbara Petolicchio, Massimiliano Toscano, Edoardo Vicenzini, Marco Castori, Guido Laudani, Donatella Valente, Filippo Camerota et al. · 2015 · Neurological Sciences
  24. Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes
    Andrew William Joseph, Shannon S. Joseph, Clair A. Francomano, Theda C. Kontis · 2017 · JAMA Facial Plastic Surgery
  25. Management of Patients With Aortic Dissection
    Ernst Weigang, Christoph Anton Nienaber, Tim C. Rehders, Hüseyin İnce, Christian‐Friedrich Vahl, Friedhelm Beyersdorf · 2008 · Deutsches Ärzteblatt international
  26. The effects of muscle hypotonia and weakness on balance: A study on Prader–Willi and Ehlers–Danlos syndrome patients
    Manuela Galli, Verônica Cimolin, Luca Vismara, Graziano Grugni, Filippo Camerota, Claudia Celletti, Giorgio Albertini, Chiara Rigoldi, Paolo Capodaglio · 2011 · Research in Developmental Disabilities
  27. Patients with Ehlers Danlos syndrome and CRPS: A possible association?
    Joan Marilyn Stoler, Anne Louise Oaklander · 2006 · Pain
  28. Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012
    Karin Mayer, Ingo Kennerknecht, Beat U. Steinmann · 2012 · European Journal of Human Genetics
  29. Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three‐generation family without cardiovascular events, and literature review
    Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara‐Pinton, Marco Ritelli · 2016 · American Journal of Medical Genetics Part A
  30. P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA
    David M. Hudson, MaryAnn Weis, Jyoti Rai, Kyu Sang Joeng, Milena Dimori, Brendan Lee, Roy Morello, David R. Eyre · 2017 · Journal of Biological Chemistry
  31. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers‐Danlos syndrome
    Cecilia Giunta, Lieve Nuytinck, Michael Raghunath, Ingrid Haußer, Anne De Paepe, Beat U. Steinmann · 2002 · American Journal of Medical Genetics
  32. Differentiation of Secreted and Membrane-Type Matrix Metalloproteinase Activities Based on Substitutions and Interruptions of Triple-Helical Sequences
    Dmitriy Minond, Janelle L. Lauer‐Fields, Mare Čudić, Christopher M. Overall, Duanqing Pei, Keith Brew, Marcia L. Moss, Gregg B. Fields · 2007 · Biochemistry
  33. Biochemical Markers of Bone Metabolism
    Eckhard Schönaü, Frank Rauch · 2003 · Elsevier eBooks
  34. The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure
    Cecilia Giunta, Céline Chambaz, Marina Pedemonte, Sara Scapolan, Beat U. Steinmann · 2008 · American Journal of Medical Genetics Part A
  35. Syndrome d’Ehlers-Danlos vasculaire
    Jérôme Perdu, Pierre Boutouyrie, Khadija Lahlou‐Laforêt, Philippe Khau Van Kien, Nicolas Denarié, Élie Mousseaux, Marc R. Sapoval, Pierre L. Julia, Frank Zinzindohoué, Philippe A. Touraine et al. · 2006 · La Presse Médicale
  36. The lysyl hydroxylase isoforms are widely expressed during mouse embryogenesis, but obtain tissue- and cell-specific patterns in the adult
    Antti M. Salo, Laura Sipilä, Raija T. Sormunen, Heli J. Ruotsalainen, Seppo Juhani Vainio, Raili Myllylä · 2006 · Matrix Biology
  37. Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype?
    Miglis, Mitchell G., Schultz, Brittany, Muppidi, Srikanth · 2017 · Autonomic Neuroscience
  38. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
    Janine Meienberg, Marianne Rohrbach, Stefan Neuenschwander, Katharina S. Spanaus, Cecilia Giunta, Sira Alonso, Eliane Arnold, Caroline Henggeler, Stephan Regenass, Andrea Patrignani et al. · 2010 · European Journal of Human Genetics
  39. Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI)
    Uluç Yiş, Eray Dırık, Céline Chambaz, Beat U. Steinmann, Cecilia Giunta · 2008 · Neuromuscular Disorders
  40. Degenerative Cervical Myelopathy: Towards a Personalized Approach
    Nader Hejrati, Ali Moghaddamjou, Nandan Amrit Marathe, Michael George Fehlings · 2021 · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
  41. Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations
    Ritelli, Marco, Chiarelli, Nicola, Zoppi, Nicoletta, Dordoni, Chiara, Quinzani, Stefano, Traversa, Michele, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina · 2015 · Molecular Genetics and Metabolism Reports
  42. Automated HPLC Assay for Urinary Collagen Cross-links: Effect of Age, Menopause, and Metabolic Bone Diseases
    MARIUS E. KRAENZLIN, Claude A. Kraenzlin, Christian Meier, Cecilia Giunta, Beat U. Steinmann · 2008 · Clinical Chemistry
  43. Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients
    Voermans, N.C., Altenburg, T.M., Hamel, B.C., de Haan, A., van Engelen, B.G. · 2007 · Neuromuscular Disorders
  44. The neuromuscular differential diagnosis of joint hypermobility
    Sandra C. Donkervoort, Carsten G. Bönnemann, Bart Loeys, Heinz Jungbluth, Nicol Cornelia Voermans · 2015 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
  45. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients
    Marina Colombi, Chiara Dordoni, Marina Venturini, Claudia Ciaccio, Silvia Morlino, Nicola Chiarelli, Arianna Zanca, Piergiacomo Calzavara‐Pinton, Nicoletta Zoppi, Marco Castori et al. · 2017 · Clinical Genetics
  46. Evaluation of balance and improvement of proprioception by repetitive muscle vibration in a 15‐year‐old girl with joint hypermobility syndrome
    Claudia Celletti, Marco Castori, Manuela Galli, Chiara Rigoldi, Paola Grammatico, Giorgio Albertini, Filippo Camerota · 2011 · Arthritis Care & Research
  47. The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type
    Camerota, Filippo, Galli, Manuela, Cimolin, Veronica, Celletti, Claudia, Ancillao, Andrea, Blow, David, Albertini, Giorgio · 2015 · Therapeutic Advances in Musculoskeletal Disease
  48. Heritable disorders of connective tissue
    Victor A. McKusick · 1956 · Journal of Chronic Diseases
  49. Lysine hydroxylation of collagen in a fibroblast cell culture system
    Katsuhiro Uzawa, Heather N. Yeowell, Kazushi Yamamoto, Yoshiyuki Mochida, Hideki Tanzawa, Mitsuo Yamauchi · 2003 · Biochemical and Biophysical Research Communications
  50. Association Analysis of Bone Mineral Density and Single Nucleotide Polymorphisms in Two Candidate Genes on Chromosome 1p36
    Loretta D. Spotila, H. Rodriguez, Michael Koch, Harriet S. Tenenhouse, Alan Tenenhouse, H. Li, Marcella Devoto · 2003 · Calcified Tissue International
  51. FAK-independent αvβ3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts
    Zoppi, Nicoletta, Barlati, Sergio, Colombi, Marina · 2008 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  52. High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey
    Jennifer E Glayzer, Barbara L. McFarlin, Marco Castori, Marie L. Suarez, Monya Meinel, William H. Kobak, Alana D. Steffen, Judith M. Schlaeger · 2021 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
  53. Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management
    Peter Heim, Michael Raghunath, Ludwig A. Meiss, U. Heise, Raili Myllylä, Alfried Kohlschütter, Beat U. Steinmann · 1998 · Acta Paediatrica
  54. Sleep disorders and their management in children with Ehlers-Danlos syndrome referred to sleep clinics
    Domany, Keren Armoni, Hantragool, Sumalee, Smith, David F., Xu, Yuanfang, Hossain, Monir, Simakajornboon, Narong · 2018 · Journal of Clinical Sleep Medicine
  55. Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications
    Farouk Olubajo, Chandrasekaran Kaliaperumal, Kishor A. Choudhari · 2020 · Clinical Neurology and Neurosurgery
  56. Recommendations of the Task Force on Aortic Dissection, European Society of Cardiology†
    Raimund M. Erbel, Fernándo Alfonso, Cathérine Boileau, Olaf Dirsch, Bernd Eber, Axel Haverich, Harry Rakowski, Julien L. Struyven, Kjell Rådegran, Udo P Sechtem et al. · 2001
  57. Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1
    Viglio, Simona, Zoppi, Nicoletta, Sangalli, Antonella, Gallanti, Angelo, Barlati, Sergio, Mottes, Monica, Colombi, Marina, Valli, Maurizia · 2008 · Journal of Investigative Dermatology
  58. Bilateral anterior and posterior glenohumeral stabilization using Achilles tendon allograft augmentation in a patient with Ehlers-Danlos syndrome
    Salma Chaudhury, Selom Gasinu, Scott Alan Rodeo · 2012 · Journal of Shoulder and Elbow Surgery
  59. The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study
    Leganger, Julie, Fonnes, Siv, Kulas Søborg, M. L., Rosenberg, Jacob, Burcharth, Jakob · 2022 · Disability and Rehabilitation
  60. Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers–Danlos and Prader–Willi syndrome
    Verônica Cimolin, Manuela Galli, Luca Vismara, Graziano Grugni, Filippo Camerota, Claudia Celletti, Giorgio Albertini, Chiara Rigoldi, Paolo Capodaglio · 2011 · Research in Developmental Disabilities
  61. Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndrome
    Nicol Cornelia Voermans, Carsten G. Bönnemann, Martin M. Y. Lammens, Baziel G.M. van Engelen, Ben C.J. Hamel · 2009 · American Journal of Medical Genetics Part A
  62. Systematic investigation of the skin inChst14−/−mice: A model for skin fragility in musculocontractural Ehlers–Danlos syndrome caused byCHST14variants (mcEDS-CHST14)
    Takuya Hirose, Shuji Mizumoto, Ayana Hashimoto, Yuki Takahashi, Takahiro Yoshizawa, Yuko Nitahara‐Kasahara, Naoki Takahashi, Jun Nakayama, Kazushige TAKEHANA, Takashi Okada et al. · 2020 · Glycobiology
  63. Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype
    Ebtesam Mohamed Abdalla, Marianne Rohrbach, Céline Bürer, MARIUS E. KRAENZLIN, Hazem Mossad El-Tayeby, Mervat El-Belbesy, Amira Nabil, Cecilia Giunta · 2014 · European Journal of Pediatrics
  64. The Genetics and Development of Scoliosis
    Kenro Kusumi, Sally L. Dunwoodie · 2009 · Springer eBooks
  65. A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation
    Ayse Fahriye Tosun, Serkan Kurtgöz, Şiar Dursun, Gökay Bozkurt · 2014 · Pediatric Neurology
  66. A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome
    Miki Watanabe, Ryuji Nakagawa, Takuya Naruto, Tomohiro Kohmoto, Kenichi Suga, Aya Goji, Shoji Kagami, Kiyoshi Masuda, Issei Imoto · 2016 · Human Genome Variation
  67. Spinal manifestations in 12 patients with musculocontractural Ehlers‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐CHST14)
    Masashi Uehara, Tomoki Kosho, Noriaki Yamamoto, Hideaki E. Takahashi, Taketoshi Shimakura, Jun Nakayama, Hiroyuki Kato, Jun Takahashi · 2018 · American Journal of Medical Genetics Part A
  68. Aortic Dissection and Related Syndromes
    Eagle, Kim A, Nienaber, Christoph A, Isselbacher, Eric M, Baliga, Ragavendra R · 2007 · Developments in cardiovascular medicine
  69. The Ehlers-Danlos Syndromes
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  70. Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder
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  71. The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital
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  72. A Novel Mutation in the Lysyl Hydroxylase 1 Gene Causes Decreased Lysyl Hydroxylase Activity in an Ehlers–Danlos VIA Patient
    Linda C. Walker, Mayra A. Overstreet, Adnan Siddiqui, Anne De Paepe, Gülay Ceylaner, Fransiska Malfait, Sofie Symoens, Phimon Atsawasuwan, Mitsuo Yamauchi, Serdar Ceylaner et al. · 2005 · Journal of Investigative Dermatology
  73. Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation
    L.C. Walker, M.A. Overstreet, Marcia C. Willing, Joan C. Marini, Wayne A. Cabral, Gerard Pals, James D Bristow, Phimon Atsawasuwan, M. Yamauchi, Heather N. Yeowell · 2004 · American Journal of Medical Genetics Part A
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  75. A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb-Clubfoot Synd
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  76. Type III and V collagens modulate the expression and assembly of EDA+fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts
    Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina · 2012 · Biochimica et Biophysica Acta (BBA) - General Subjects
  77. Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome
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  78. Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome
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  79. Slc39a13/Zip13: A Crucial Zinc Transporter Involved in Tooth Development and Inherited Disorders
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  81. Ehlers–Danlos Syndrome Associated with Glycosaminoglycan Abnormalities
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  82. Matrix Molecules and Their Ligands
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  83. Further delineation of <i>FKBP14</i>‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review
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  84. Sudden death due to aortic pathology
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  85. Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential
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  86. Zinc Signal in Growth Control and Bone Diseases
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  87. Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl
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  88. Nutritional Implications of Patients with Dysautonomia and Hypermobility Syndromes
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  91. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations
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  92. Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum
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  93. Ehlers-Danlos Syndrome, Kyphoscoliotic Form
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  94. Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV
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  95. Reconstruction of chronic patellar tendon tear with allograft in a patient with Ehlers‐Danlos syndrome
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  96. Heritable Disorders of Connective Tissue
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  97. Disorders of Connective Tissue
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  99. Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome
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  100. The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
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