Search Results - "Castori, M"

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features by Guerra, L., Castori, M., Didona, B., Castiglia, D., Zambruno, G.

“…The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as…”
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Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood by Castori, M.

“…Maternal diabetes mellitus is one of the strongest human teratogens. Despite recent advances in the fields of clinical embryology, experimental teratology and…”
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Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy by Guerra, L., Castori, M., Didona, B., Castiglia, D., Zambruno, G.

“…Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at…”
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Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type by Di Stefano, G., Celletti, C., Baron, R., Castori, M., Di Franco, M., La Cesa, S., Leone, C., Pepe, A., Cruccu, G., Truini, A., Camerota, F.

“…Background Patients with joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type (JHS/EDS‐HT) commonly suffer from pain. How this hereditary…”
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Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type) by CASTORI, M, SPERDUTI, I, CELLETTI, C, CAMEROTA, F, GRAMMATICO, P

“…To evaluate progression of symptoms and joint mobility in the joint hypermobility syndrome (JHS) in order to identify specific disease pictures by age at…”
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Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association by Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F., Cacchiarelli, D.

“…The application of next-generation sequencing (NGS) to clinical practice is still hampered by the ability to interpret the clinical relevance of novel variants…”
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Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients by Colombi, M., Dordoni, C., Venturini, M., Ciaccio, C., Morlino, S., Chiarelli, N., Zanca, A., Calzavara‐Pinton, P., Zoppi, N., Castori, M., Ritelli, M.

“…Classical Ehlers‐Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision…”
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Pachydermoperiostosis: an update by Castori, M, Sinibaldi, L, Mingarelli, R, Lachman, RS, Rimoin, DL, Dallapiccola, B

“…Pachydermoperiostosis (PDP) is a rare genodermatosis, characterized by pachydermia, digital clubbing, periostosis and an excess of affected males. Although an…”
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Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology by Piceci, F., Morlino, S., Castori, M., Buffone, E., De Luca, A., Grammatico, P., Guida, V.

“…Microtia is a congenital defect affecting external ears, which appear smaller and sometimes malformed. Here we describe a five‐generation family with isolated…”
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A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations by Ritelli, M., Morlino, S., Giacopuzzi, E., Bernardini, L., Torres, B., Santoro, G., Ravasio, V., Chiarelli, N., D'Angelantonio, D., Novelli, A., Grammatico, P., Colombi, M., Castori, M.

“…Deletions encompassing TAK1‐binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in…”
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Entrapment neuropathies and polyneuropathies in joint hypermobility syndrome/Ehlers–Danlos syndrome by Granata, G, Padua, L, Celletti, C, Castori, M, Saraceni, V.M, Camerota, F

“…Highlights ► This study aims to investigate the involvement of the peripheral nervous system, with particular attention to entrapment syndromes, in JHS/EDS-HT…”
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Chronic fatigue syndrome is commonly diagnosed in patients with Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome by CASTORI, M, CELLETTI, C, CAMEROTA, F, GRAMMATICO, P

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Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1 by Rotunno, R., Diociaiuti, A., Agolini, E., Latorre, S., Carnevale, C., Novelli, A., El Hachem, M., Castori, M.

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A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report by Celletti, C, Camerota, F, Paolucci, T, Pezzi, L, De Meo, D, Castori, M, Villani, C, Persiani, P

“…De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa…”
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Novel mutations of the PRKAR1A gene in patients with acrodysostosis by Muhn, F, Klopocki, E, Graul-Neumann, L, Uhrig, S, Colley, A, Castori, M, Lankes, E, Henn, W, Gruber-Sedlmayr, U, Seifert, W, Horn, D

“…Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. Recently, it was…”
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39. Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type by Pepe, A, Leone, C, Di Stefano, G, Celletti, C, Baron, R, Castori, M, Di Franco, M, La Cesa, S, Cruccu, G, Truini, A, Camerota, F

“…Patients with joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective…”
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Pachydermodactyly with mild features of heritable connective tissue disorder and no sign of emotional distress by Castori, M., Paradisi, A.

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Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum by Castori, M, Castiglia, D, Brancati, F, Foglio, M, Heath, S, Floriddia, G, Madonna, S, Fischer, J, Zambruno, G

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Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) by LAINE, C. M, CHUNG, B. D, COLE, W. G, NETZER, C, MÄKITIE, O, SUSIC, M, PRESCOTT, T, SEMLER, O, FISKERSTRAND, T, D'EUFEMIA, P, CASTORI, M, PEKKINEN, M, SOCHETT, E

“…Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic…”
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Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2 by Castori, M., Morlino, S., Sana, M. E., Paradisi, M., Tadini, G., Angioni, A., Malacarne, M., Grammatico, P., Iascone, M., Forzano, F.

“…Summary Palmoplantar keratoderma–congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and…”
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