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
- Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers–Danlos syndrome hypermobility typeChiara Rigoldi, Verônica Cimolin, Filippo Camerota, Claudia Celletti, Giorgio Albertini, Luca Tommaso Mainardi, Manuela Galli · 2012 · Research in Developmental Disabilities
- Zinc signal: a new player in osteobiologyToshiyuki Fukada, Shintaro Hojyo, Tatsuya Furuichi · 2012 · Journal of Bone and Mineral Metabolism
- Homocysteine decreases chondrocyte-mediated matrix mineralization in differentiating chick limb-bud mesenchymal cell micro-mass culturesMohammad Badruzzaman Khan, M. Yamauchi, Sirivimol Srisawasdi, Dalina Stiner, Stephen B. Doty, Eleftherios P. Paschalis, Adele L. Boskey · 2001 · Bone
- Inherited diseases and syndromes leading to aortic aneurysms and dissectionsAhmet Okay Çağlayan, Munis Dündar · 2009 · European Journal of Cardio-Thoracic Surgery
- 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 urineDavid R. Eyre, Ping Shao, Mary Ann Weis, Beat U. Steinmann · 2002 · Molecular Genetics and Metabolism
- Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; managementRoberto Pinna, Fabio Cocco, Guglielmo Campus, Giulio Conti, Egle Patrizia Milia, Andrea Sardella, Maria Grazia Cagetti · 2019 · Periodontology 2000
- Ehlers-Danlos syndromesNeeti Ghali, Glenda J. Sobey, Nigel Burrows · 2019 · BMJ
- 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 stabilizationFraser C. Henderson, Clair A. Francomano, Myles B. Koby, Kelly Tuchman, Jessica Young Adcock, Sunil J. Patel · 2019 · Neurosurgical Review
- Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin‐X mutationsManon C. Zweers, W B Dean, Toin H. Van Kuppevelt, James D Bristow, Joost Schalkwijk · 2005 · Clinical Genetics
- Gait strategy in patients with Ehlers–Danlos syndrome hypermobility type: A kinematic and kinetic evaluation using 3D gait analysisManuela Galli, Verônica Cimolin, Chiara Rigoldi, Marco Castori, Claudia Celletti, Giorgio Albertini, Filippo Camerota · 2011 · Research in Developmental Disabilities
- Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndromeJulie F A De Backer, Bart Loeys, Bart Peter Leroy, Paul J. Coucke, Harry C. Dietz, Anne De Paepe · 2007 · Clinical Genetics
- Low- and high-anxious hypermobile Ehlers–Danlos syndrome patients: comparison of psychosocial and health variablesBaeza-Velasco, Carolina, Bourdon, Caroline, Montalescot, Lucile, de Cazotte, Cécile, Pailhez, Guillem, Bulbena, Antonio, Hamonet, Claude · 2018 · Rheumatology International
- Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center ExperienceAlomari, Mohammad, Hitawala, Asif, Chadalavada, Pravallika, Covut, Fahrettin, Al Momani, Laith, Khazaaleh, Shrouq, Gosai, Falgun, Al Ashi, Suleiman, Abushahin, Ashraf, Schneider, Alison · 2020 · Cureus
- CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndromeKosho, Tomoki · 2016 · Pediatrics International
- Joint hypermobility as a distinctive feature in the differential diagnosis of myopathiesNicol Cornelia Voermans, Carsten G. Bönnemann, Ben C.J. Hamel, Heinz Jungbluth, Baziel G.M. van Engelen · 2009 · Journal of Neurology
- The Vascular Type of Ehlers-Danlos SyndromeAtsushi Watanabe, Takashi Shimada · 2008 · Journal of Nippon Medical School
- Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girlsKosho, Tomoki, Takahashi, Jun, Ohashi, Hirofumi, Nishimura, Gen, Kato, Hiroyuki, Fukushima, Yoshimitsu · 2005 · American Journal of Medical Genetics Part A
- High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndromeGherardo Mazziotti, Chiara Dordoni, Mauro Doga, F. Galderisi, Marina Venturini, Piergiacomo Calzavara‐Pinton, Roberto Maroldi, A. Giustina, Marina Colombi · 2015 · Bone
- Complete Chorioamniotic Membrane SeparationLiesbeth Lewi, Myriam Hanssens, Bernard Spitz, Jan A. Deprest · 2003 · Fetal Diagnosis and Therapy
- Extracellular Matrix (ECM) MoleculesJasvir Kaur, Dieter Peter Reinhardt · 2014 · Elsevier eBooks
- Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort studyGaisl, Thomas, Giunta, Cecilia, Bratton, Daniel J, Sutherland, Kate, Schlatzer, Christian, Sievi, Noriane, Franzen, Daniel, Cistulli, Peter A, Rohrbach, Marianne, Kohler, Malcolm · 2017 · Thorax
- Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectivesCastori, Marco · 2016 · Expert Opinion on Orphan Drugs
- A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers–Danlos syndrome, hypermobility typeFrancesca Puledda, Alessandro Viganò, Claudia Celletti, Barbara Petolicchio, Massimiliano Toscano, Edoardo Vicenzini, Marco Castori, Guido Laudani, Donatella Valente, Filippo Camerota et al. · 2015 · Neurological Sciences
- Characteristics, Diagnosis, and Management of Ehlers-Danlos SyndromesAndrew William Joseph, Shannon S. Joseph, Clair A. Francomano, Theda C. Kontis · 2017 · JAMA Facial Plastic Surgery
- Management of Patients With Aortic DissectionErnst Weigang, Christoph Anton Nienaber, Tim C. Rehders, Hüseyin İnce, Christian‐Friedrich Vahl, Friedhelm Beyersdorf · 2008 · Deutsches Ärzteblatt international
- The effects of muscle hypotonia and weakness on balance: A study on Prader–Willi and Ehlers–Danlos syndrome patientsManuela Galli, Verônica Cimolin, Luca Vismara, Graziano Grugni, Filippo Camerota, Claudia Celletti, Giorgio Albertini, Chiara Rigoldi, Paolo Capodaglio · 2011 · Research in Developmental Disabilities
- Patients with Ehlers Danlos syndrome and CRPS: A possible association?Joan Marilyn Stoler, Anne Louise Oaklander · 2006 · Pain
- Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012Karin Mayer, Ingo Kennerknecht, Beat U. Steinmann · 2012 · European Journal of Human Genetics
- 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 reviewMarina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara‐Pinton, Marco Ritelli · 2016 · American Journal of Medical Genetics Part A
- P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIADavid M. Hudson, MaryAnn Weis, Jyoti Rai, Kyu Sang Joeng, Milena Dimori, Brendan Lee, Roy Morello, David R. Eyre · 2017 · Journal of Biological Chemistry
- Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers‐Danlos syndromeCecilia Giunta, Lieve Nuytinck, Michael Raghunath, Ingrid Haußer, Anne De Paepe, Beat U. Steinmann · 2002 · American Journal of Medical Genetics
- Differentiation of Secreted and Membrane-Type Matrix Metalloproteinase Activities Based on Substitutions and Interruptions of Triple-Helical SequencesDmitriy Minond, Janelle L. Lauer‐Fields, Mare Čudić, Christopher M. Overall, Duanqing Pei, Keith Brew, Marcia L. Moss, Gregg B. Fields · 2007 · Biochemistry
- Biochemical Markers of Bone MetabolismEckhard Schönaü, Frank Rauch · 2003 · Elsevier eBooks
- The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructureCecilia Giunta, Céline Chambaz, Marina Pedemonte, Sara Scapolan, Beat U. Steinmann · 2008 · American Journal of Medical Genetics Part A
- Syndrome d’Ehlers-Danlos vasculaireJérôme 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
- The lysyl hydroxylase isoforms are widely expressed during mouse embryogenesis, but obtain tissue- and cell-specific patterns in the adultAntti M. Salo, Laura Sipilä, Raija T. Sormunen, Heli J. Ruotsalainen, Seppo Juhani Vainio, Raili Myllylä · 2006 · Matrix Biology
- Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype?Miglis, Mitchell G., Schultz, Brittany, Muppidi, Srikanth · 2017 · Autonomic Neuroscience
- Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyJanine 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
- 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
- Degenerative Cervical Myelopathy: Towards a Personalized ApproachNader Hejrati, Ali Moghaddamjou, Nandan Amrit Marathe, Michael George Fehlings · 2021 · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
- 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 mutationsRitelli, Marco, Chiarelli, Nicola, Zoppi, Nicoletta, Dordoni, Chiara, Quinzani, Stefano, Traversa, Michele, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina · 2015 · Molecular Genetics and Metabolism Reports
- Automated HPLC Assay for Urinary Collagen Cross-links: Effect of Age, Menopause, and Metabolic Bone DiseasesMARIUS E. KRAENZLIN, Claude A. Kraenzlin, Christian Meier, Cecilia Giunta, Beat U. Steinmann · 2008 · Clinical Chemistry
- Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patientsVoermans, N.C., Altenburg, T.M., Hamel, B.C., de Haan, A., van Engelen, B.G. · 2007 · Neuromuscular Disorders
- The neuromuscular differential diagnosis of joint hypermobilitySandra C. Donkervoort, Carsten G. Bönnemann, Bart Loeys, Heinz Jungbluth, Nicol Cornelia Voermans · 2015 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patientsMarina 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
- Evaluation of balance and improvement of proprioception by repetitive muscle vibration in a 15‐year‐old girl with joint hypermobility syndromeClaudia Celletti, Marco Castori, Manuela Galli, Chiara Rigoldi, Paola Grammatico, Giorgio Albertini, Filippo Camerota · 2011 · Arthritis Care & Research
- The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility typeCamerota, Filippo, Galli, Manuela, Cimolin, Veronica, Celletti, Claudia, Ancillao, Andrea, Blow, David, Albertini, Giorgio · 2015 · Therapeutic Advances in Musculoskeletal Disease
- Heritable disorders of connective tissueVictor A. McKusick · 1956 · Journal of Chronic Diseases
- Lysine hydroxylation of collagen in a fibroblast cell culture systemKatsuhiro Uzawa, Heather N. Yeowell, Kazushi Yamamoto, Yoshiyuki Mochida, Hideki Tanzawa, Mitsuo Yamauchi · 2003 · Biochemical and Biophysical Research Communications
- Association Analysis of Bone Mineral Density and Single Nucleotide Polymorphisms in Two Candidate Genes on Chromosome 1p36Loretta D. Spotila, H. Rodriguez, Michael Koch, Harriet S. Tenenhouse, Alan Tenenhouse, H. Li, Marcella Devoto · 2003 · Calcified Tissue International
- FAK-independent αvβ3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblastsZoppi, Nicoletta, Barlati, Sergio, Colombi, Marina · 2008 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
- High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online surveyJennifer 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
- Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and managementPeter Heim, Michael Raghunath, Ludwig A. Meiss, U. Heise, Raili Myllylä, Alfried Kohlschütter, Beat U. Steinmann · 1998 · Acta Paediatrica
- Sleep disorders and their management in children with Ehlers-Danlos syndrome referred to sleep clinicsDomany, Keren Armoni, Hantragool, Sumalee, Smith, David F., Xu, Yuanfang, Hossain, Monir, Simakajornboon, Narong · 2018 · Journal of Clinical Sleep Medicine
- Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complicationsFarouk Olubajo, Chandrasekaran Kaliaperumal, Kishor A. Choudhari · 2020 · Clinical Neurology and Neurosurgery
- 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
- Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1Viglio, Simona, Zoppi, Nicoletta, Sangalli, Antonella, Gallanti, Angelo, Barlati, Sergio, Mottes, Monica, Colombi, Marina, Valli, Maurizia · 2008 · Journal of Investigative Dermatology
- Bilateral anterior and posterior glenohumeral stabilization using Achilles tendon allograft augmentation in a patient with Ehlers-Danlos syndromeSalma Chaudhury, Selom Gasinu, Scott Alan Rodeo · 2012 · Journal of Shoulder and Elbow Surgery
- The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort studyLeganger, Julie, Fonnes, Siv, Kulas Søborg, M. L., Rosenberg, Jacob, Burcharth, Jakob · 2022 · Disability and Rehabilitation
- Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers–Danlos and Prader–Willi syndromeVerônica Cimolin, Manuela Galli, Luca Vismara, Graziano Grugni, Filippo Camerota, Claudia Celletti, Giorgio Albertini, Chiara Rigoldi, Paolo Capodaglio · 2011 · Research in Developmental Disabilities
- Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndromeNicol 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
- 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
- Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotypeEbtesam 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
- The Genetics and Development of ScoliosisKenro Kusumi, Sally L. Dunwoodie · 2009 · Springer eBooks
- A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene MutationAyse Fahriye Tosun, Serkan Kurtgöz, Şiar Dursun, Gökay Bozkurt · 2014 · Pediatric Neurology
- A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndromeMiki Watanabe, Ryuji Nakagawa, Takuya Naruto, Tomohiro Kohmoto, Kenichi Suga, Aya Goji, Shoji Kagami, Kiyoshi Masuda, Issei Imoto · 2016 · Human Genome Variation
- 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
- Aortic Dissection and Related SyndromesEagle, Kim A, Nienaber, Christoph A, Isselbacher, Eric M, Baliga, Ragavendra R · 2007 · Developments in cardiovascular medicine
- The Ehlers-Danlos SyndromesMarlies Colman, Anne De Paepe, Fransiska Malfait · 2023 · Springer eBooks
- Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorderPiedimonte, Caterina, Penge, Roberta, Morlino, Silvia, Sperduti, Isabella, Terzani, Andrea, Giannini, Maria Teresa, Colombi, Marina, Grammatico, Paola, Cardona, Francesco, Castori, Marco · 2018 · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- 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 HospitalNimish Mittal, Daniel Santa Mina, Laura McGillis, Aliza Weinrib, Peter Maxwell Slepian, Maxim Rachinsky, Stephanie Buryk-Iggers, Camille Laflamme, Laura Lopez-Hernandez, Laura Hussey et al. · 2021 · Orphanet Journal of Rare Diseases
- A Novel Mutation in the Lysyl Hydroxylase 1 Gene Causes Decreased Lysyl Hydroxylase Activity in an Ehlers–Danlos VIA PatientLinda 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
- Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylationL.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
- Altered Arterial Homeostasis and Cerebral Aneurysms: A Review of the Literature and Justification for a Search of Molecular BiomarkersAmin B. Kassam, Michael Horowitz, Yue‐Fang Chang, David Gerard Peters · 2004 · Neurosurgery
- 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 SyndTomoki Kosho, Noriko Miyake, Shuji Mizumoto, Atsushi Hatamochi, Yoshimitsu Fukushima, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto · 2011 · Human Mutation
- Type III and V collagens modulate the expression and assembly of EDA+fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblastsZoppi, Nicoletta, Ritelli, Marco, Colombi, Marina · 2012 · Biochimica et Biophysica Acta (BBA) - General Subjects
- Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos SyndromeMaiken Møller, Michael Kjær, R. Lovind Andersen, S. Peter Magnusson, R.B. Nielsen · 2019 · Muscles Ligaments and Tendons Journal
- Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndromeOthman Yassin, Farouk Bassam Rihani · 2006 · Journal of Clinical Pediatric Dentistry
- Slc39a13/Zip13: A Crucial Zinc Transporter Involved in Tooth Development and Inherited DisordersToshiyuki Fukada, Yoshinobu Asada, Kenji Mishima, Shinji Shimoda, Ichiro Saito · 2011 · Journal of Oral Biosciences
- Distribution of extracellular matrix molecules in human uterine tubes during the menstrual cycle: a histological and immunohistochemical analysisCarlos Godoy‐Guzmán, Claudio Nuñez, Pedro A. Orihuela, Antonìo Campos, Víctor Carriel · 2018 · Journal of Anatomy
- Ehlers–Danlos Syndrome Associated with Glycosaminoglycan AbnormalitiesNoriko Miyake, Tomoki Kosho, Naomichi Matsumoto · 2013 · Advances in experimental medicine and biology
- Matrix Molecules and Their LigandsBjorn Reino Olsen · 2013 · Elsevier eBooks
- Further delineation of <i>FKBP14</i>‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature reviewDordoni, Chiara, Ciaccio, Claudia, Venturini, Marina, Calzavara‐Pinton, Piergiacomo, Ritelli, Marco, Colombi, Marina · 2016 · American Journal of Medical Genetics Part A
- Sudden death due to aortic pathologyJohn K. Papagiannis · 2017 · Cardiology in the Young
- Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational PotentialRobin Vroman, Anne‐Marie Malfait, Rachel E. Miller, Fransiska Malfait, Delfien Syx · 2021 · Frontiers in Genetics
- Zinc Signal in Growth Control and Bone DiseasesToshiyuki Fukada, Shintaro Hojyo, Bum-Ho Bin · 2014 · Springer eBooks
- Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girlIrene Brunk, Brigitte St�ver, Chrysanthy Ikonomidou, J�rgen Brinckmann, Luitgard M. Neumann · 2004 · European Journal of Pediatrics
- Nutritional Implications of Patients with Dysautonomia and Hypermobility SyndromesToan Do, Sarah J. Diamond, Caitlin Green, Malissa M. Warren · 2021 · Current Nutrition Reports
- Evaluating for Suspected Child Abuse: Conditions That Predispose to BleedingShannon L. Carpenter, Thomas C. Abshire, Emily Fitch Killough, James D. Anderst · 2022 · PEDIATRICS
- Characterisation of the Drosophila procollagen lysyl hydroxylase, dPlodStephanie M. Bunt, Barry Denholm, Helen Skaer · 2010 · Gene Expression Patterns
- Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutationsBruno Angelo Drera, Nicoletta Zoppi, Marco Ritelli, Sergio Barlati, Marina Colombi, Gianluca Tadini, Marina Venturini, Piergiacomo Calzavara‐Pinton, Anita Wischmeijer, Maria Anna Nicolazzi et al. · 2011 · Journal of Dermatological Science
- Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma ElasticumJouni Uitto, Leena Pulkkinen, Franziska Ringpfeil · 2002 · Journal of Investigative Dermatology Symposium Proceedings
- Ehlers-Danlos Syndrome, Kyphoscoliotic FormHeather N. Yeowell, Beat U. Steinmann · 2013
- Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IVSatya B. Allaparthi · 2013 · World Journal of Gastrointestinal Endoscopy
- Reconstruction of chronic patellar tendon tear with allograft in a patient with Ehlers‐Danlos syndromeVenanzio Iacono, Fabrizio Cigala, Flavio Fazioli, Donato Rosa, Nicola Maffulli · 2009 · Knee Surgery Sports Traumatology Arthroscopy
- Heritable Disorders of Connective TissueReed Edwin Pyeritz · 2008 · Springer eBooks
- Disorders of Connective TissueNigel Burrows, Christopher Roland Lovell · 2010 · Wiley eBooks
- Association between diverticular disease and Ehlers-Danlos syndrome: a 13-year nationwide population-based cohort studyJulie Leganger, Marie-Louise Kulas Søborg, Laura Quitzau Mortensen, Rasmus Gregersen, Jacob Rosenberg, Jakob Burcharth · 2016 · International Journal of Colorectal Disease
- Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndromeLawrence B. Afrin · 2021 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
- 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 CasesCamille Kumps, Belinda Campos‐Xavier, Yvonne Hilhorst‐Hofstee, Carlo Marcelis, MARIUS E. KRAENZLIN, Nicole Fleischer, Sheila Unger, Andrea Superti‐Furga · 2020 · Genes