prof. dr. Fransiska Malfait
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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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- Journal Article
- A1
- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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- Journal Article
- A1
- open access
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review
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Updating the evidence on functional capacity evaluation methods : a systematic review
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- Conference Paper
- C3
- open access
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Hypermobility, the Ehlers-Danlos syndromes and chronic pain
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Foot kinematics in the hypermobility type of Ehlers-Danlos syndrome using the Ghent Foot Model
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Identification of a novel COL1A1 mutation associated with Caffey disease
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
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The Ehlers-Danlos syndromes, rare types
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The International Consortium on the Ehlers-Danlos Syndromes
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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- Journal Article
- A1
- open access
The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome : the impact of proprioception
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Ehlers-Danlos syndrome, classical type
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A framework for the classification of joint hypermobility and related conditions
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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- Journal Article
- A1
- open access
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay
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The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood : a phenomenological, hermeneutical study
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Evaluation of the role of germline RECQL variants in Belgian patients referred for genetic testing in the context of familial breast/ovarian cancer
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Differential expression of type III collagen in male and female mice
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Type III collagen is important for dermal and cardiovascular development, and type I collagen fibrillogenesis
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Y RIN2 syndrome : expanding the clinical phenotype
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Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients
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Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome
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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
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Cephalometrics in Stickler syndrome : objectification of the typical facial appearance
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The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study
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The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study
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Stickler syndrome: comprehensive clinical and molecular analysis
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- Journal Article
- A1
- open access
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
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- Journal Article
- A1
- open access
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation
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Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
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The G2 micronucleus-assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 mutation
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Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
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The genetics of soft connective tissue disorders
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Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
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Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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Postaxial polydactyly type A in a patient with Ellis-van Creveld syndrome: additional value of MR imaging
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Genetics of the Ehlers-Danlos syndrome: more than collagen disorders
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Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists
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A rare case of polycarpyly in a patient with Ellis-van Creveld syndrome: plain film findings and additional value of MRI
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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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A zebrafish model for Bruck syndrome caused by PLOD2 mutations
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Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia
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- Journal Article
- A1
- open access
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)
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The G2 micronucleus assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 or BRCA2 mutation
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Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3
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The G2-micronucleus assay for the detection of in vitro chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
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Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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A zebrafish model for Bruck Syndrome caused by PLOD2 mutations
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Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients
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Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
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Endogenous pain modulation in the Ehlers-Danlos syndrome, hypermobility type
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Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
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Osteogenesis imperfecta: meer dan alleen collageen?
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Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country
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Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
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Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls
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Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations
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The Ehlers-Danlos syndrome
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Compound heterozygous mutations of the TNXB gene cause primary myopathy: response
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Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome
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C-propeptide mutations in procollagen type I and V are associated with endoplasmic reticulum stress-specific unfolded protein responses
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Ehlers-Danlos Syndrome
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Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer
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Compound heterozygous mutations of the TNXB gene cause primary myopathy
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- Journal Article
- A1
- open access
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
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Sequence alterations in the carboxyl-terminal propeptide domain
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Disorders of connective tissue and extracellular matrix
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- Conference Paper
- C3
- open access
Arguments for dysfunctional pain in Ehlers-Danlos syndrome hypermobility type
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Hearing impairment in Stickler syndrome: a systematic review
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Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
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Clinical utility gene card for: osteogenesis imperfecta
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Copper deficiency in patients with cystinosis with cysteamine toxity
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Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
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Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
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- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity