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Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestationsNeurological manifestations of Ehlers-Danlos syndrome(s): A reviewNovel SMAD4 mutation causing Myhre syndromeMutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeAHI1 gene mutations cause specific forms of Joubert syndrome-related disordersFoot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing.Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case reportHeterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystoniaCentral sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.A patient with unilateral tibial aplasia and accessory scrotum: a pure coincidence or nonfortuitous association?Genetic skin diseases predisposing to basal cell carcinoma.Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.Discoveries and controversies in cutaneous mosaicism.Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility typeJejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms.A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.Chronic fatigue syndrome is commonly diagnosed in patients with Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome.Surgical recommendations in Ehlers-Danlos syndrome(s) need patient classification: the example of Ehlers-Danlos syndrome hypermobility type (a.k.a. joint hypermobility syndrome).Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.Ehlers-Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes.A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
P50
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P50
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hulumtues
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onderzoeker
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researcher
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հետազոտող
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name
Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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type
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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Marco Castori
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P1053
K-1099-2016
P106
P21
P31
P3829
P496
0000-0002-6069-0993