Malfait, Fransiska

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

A framework for the classification of joint hypermobility and related conditions

Castori, M., Tinkle, B., Levy, H., Grahame, R., Malfait, F., & Hakim, A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 602

The Ehlers–Danlos syndrome, a disorder with many faces

De Paepe, A., & Malfait, F. (2012) · Clinical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 379

The Ehlers–Danlos syndromes, rare types

Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 258

Ehlers-Danlos syndromes and Marfan syndrome

Callewaert, B., Malfait, F., Loeys, B., & De Paepe, A. (2008) · Best Practice & Research Clinical Rheumatology

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 257

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers–Danlos syndrome hypermobility type

Rombaut, L., Malfait, F., Cools, A., De Paepe, A., & Calders, P. (2010) · Disability and Rehabilitation

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 236

Ehlers-Danlos syndrome, classical type

Bowen, J. M., Sobey, G. J., Burrows, N. P., Colombi, M., Lavallee, M. E., Malfait, F., & Francomano, C. A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 184

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

De Wandele, I., Rombaut, L., Leybaert, L., Van de Borne, P., De Backer, T., Malfait, F., De Paepe, A., & Calders, P. (2014) · Seminars in Arthritis and Rheumatism

Cardiovascular Syncope and Autonomic DisordersHeart Rate Variability and Autonomic Control

Cited by 168

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Malfait, F., Symoens, S., De Backer, J., Hermanns-Lê, T., Sakalihasan, N., Lapière, C. M., Coucke, P., & De Paepe, A. (2007) · Human Mutation

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 167

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., & De Paepe, A. (2012) · Human Mutation

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 165

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 142

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Colige, A., Nuytinck, L., Hausser, I., van Essen, A. J., Thiry, M., Herens, C., Adès, L. C., Malfait, F., Paepe, A. D., Franck, P., et al. (2004) · Journal of Investigative Dermatology

Connective tissue disorders researchProtease and Inhibitor Mechanisms

Cited by 139

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

Rombaut, L., Malfait, F., De Wandele, I., Cools, A., Thijs, Y., De Paepe, A., & Calders, P. (2011) · Archives of Physical Medicine and Rehabilitation

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 124

Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Malfait, F., Symoens, S., Coucke, P., Nunes, L., De Almeida, S., & De Paepe, A. (2006) · Journal of Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 124

The international consortium on the Ehlers–Danlos syndromes

Bloom, L., Byers, P., Francomano, C., Tinkle, B., Malfait, F., & on behalf of the Steering Committee of The International Consortium on the Ehlers‐Danlos Syndromes (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 123

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Malfait, F., Syx, D., Vlummens, P., Symoens, S., Nampoothiri, S., Hermanns-Lê, T., Van Laer, L., & De Paepe, A. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 122

Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: A comparative study with two other EDS types, fibromyalgia, and healthy controls

De Wandele, I., Calders, P., Peersman, W., Rimbaut, S., De Backer, T., Malfait, F., De Paepe, A., & Rombaut, L. (2014) · Seminars in Arthritis and Rheumatism

Connective tissue disorders researchCardiovascular Syncope and Autonomic Disorders

Cited by 119

Vascular aspects of the Ehlers-Danlos Syndromes

Malfait, F. (2018) · Matrix Biology

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 113

Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: A comparative study with fibromyalgia and rheumatoid arthritis

Rombaut, L., Malfait, F., De Paepe, A., Rimbaut, S., Verbruggen, G., De Wandele, I., & Calders, P. (2011) · Arthritis & Rheumatism

Musculoskeletal pain and rehabilitationConnective tissue disorders research

Cited by 91

Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: Evidence for generalized hyperalgesia

Rombaut, L., Scheper, M., De Wandele, I., De Vries, J., Meeus, M., Malfait, F., Engelbert, R., & Calders, P. (2015) · Clinical Rheumatology

Fibromyalgia and Chronic Fatigue Syndrome ResearchPain Mechanisms and Treatments

Cited by 91

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos Syndrome

De Wandele, I., Rombaut, L., Malfait, F., De Backer, T., De Paepe, A., & Calders, P. (2013) · Research in Developmental Disabilities

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 89

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

Syx, D., Van Damme, T., Symoens, S., Maiburg, M. C., van de Laar, I., Morton, J., Suri, M., Del Campo, M., Hausser, I., Hermanns-Lê, T., et al. (2015) · Human Mutation

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 84

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

D'hondt, S., Guillemyn, B., Syx, D., Symoens, S., De Rycke, R., Vanhoutte, L., Toussaint, W., Lambrecht, B. N., De Paepe, A., Keene, D. R., et al. (2018) · Matrix Biology

Connective tissue disorders researchCollagen: Extraction and Characterization

Cited by 79

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome

De Wandele, I., Rombaut, L., De Backer, T., Peersman, W., Da Silva, H., De Mits, S., De Paepe, A., Calders, P., & Malfait, F. (2016) · Rheumatology

Cardiovascular Syncope and Autonomic DisordersConnective tissue disorders research

Cited by 72