U.O. di Dermatologia Azienda Ospedaliera Spedali Civili di Brescia Piazzale Spedali Civili 1 25123 Brescia ITALY Dr. Andrea Brezzi Prof. Piergiacomo Calzavara Pinton Prof. Marina Colombi Dr. Marina Venturini dermatologia@spedalicivili. brescia.it
ARS RADIOLOGICA s.r.l. Piazza N. Sauro, 6 Ruffano (LECCE) 73049 ITALY Dr. Alessandro Castriota Scanderbeg scanderbeg@arsradiologica.it Radiologic diagnosis of genetic diseases (Acro-dermato-ungual-lacrimal-tooth syndrome, Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Arthrogryposis and ectodermal dysplasia, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, Cartilage-hair hypoplasia syndrome, Cleft lip/palate-ectodermal dysplasia sindrome, Congenital insensitivity to pain with anhidrosis, Cranioectodermal syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Ellis-van Creveld syndrome, Focal dermal hypoplasia syndrome, Growth retardation-alopecia-pseudoanodontia-optic atrophy, Hallerman-Streiff syndrome, Incontinentia pigmenti, Johanson-Blizzard syndrome, Johnson neuroectodermal syndrome, Limb-mammary syndrome, Mucoepithelial dysplasia, hereditary, Marshall syndrome, Oculodentodigital displasia, Odontoonychodermal dysplasia, Odontotrichomelic syndrome, Onychotrichodysplasia and neutropenia, Orofaciodigital syndrome type I, Rothmund-Thomson syndrome, Taurodontia, absent teeth and sparse hair, Trichodental dysplasia, Trichodentoosseous syndrome, Ulnar mammary syndrome, and Weyer acrofacial dysostosis)
Centro per le malattie cutanee ereditarie Istituto di Scienze Dermatologiche – Università di Milano Via Pace 9 20122 Milano Italy Dr. Gianluca Tadini gtadinicmce@unimi.it Outpatient clinic for Genodermatoses or rare diseases
Department of Specialistic and Experimental Clinical Medicine, Division of Dermatology University of Bologna via Massarenti 1 Bologna 40138 Italy Prof. Annalisa Patrizi Dr. Iria Neri irianeri@aosp.bo.it Outpatient clinic for Genodermatoses or rare diseases (Autoimmune polyendocrinopathy-candiasis-ectodermal dystrophy syndrome, Cleft lip/palate-ectodermal dysplasia syndrome, Clouston syndrome, Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Focal dermal hypoplasia syndrome, Incontinentia pigmenti, Orofaciodigital syndrome type I, Rapp-Hodgkin syndrome, Rothmund-Thomson syndrome, Trichodental dysplasia)
Dipartimento di scienze dermatologiche Via della Pergola, 58 Florence 50121 Italy Prof. Paolo Fabbri fabbri@unifi.it Outpatient clinic for Genodermatoses or rare diseases
U.O.C. di Dermatologia Dipartimento di Medicina Pediatrica IRCCS Ospedale Pediatrico Bambino Gesù Piazza S. Onofrio 4 00165 Roma Italy Dr May El Hachem (chief Unit of Dermatology) Dr Andrea Diociaiuti Dr Annalisa Ciasulli may.elhachem@opbg.net andrea.diociaiuti@opbg.net Managing multidisciplinary approaches for Epidermolysis bullosa, Ichthyosis, Incontinentia Pigmenti and Vascular anomalies. Also for other several disorders, e.g. Ehlers-Danlos, NF, Ectodermal dysplasia etc
Medical Genetic Unit Bambino Gesù Children’s Hospital Piazza S. Onofrio, 4 00165 Rome Italy Dr. Maria Cristina Digilio digilio@opbg.net Outpatient clinic for Genodermatoses or rare diseases (for Ectrodactyly-ectodermal dysplasia-cleft lip/palate sindrome and Incontinentia pigmenti)
Neurology Unit Bambino Gesù Children’s Hospital Piazza S. Onofrio, 4 00165 Rome Italy Prof. Federico Vigevano vigevano@opbg.net Outpatient clinic for Epileptic disorders (for Incontinentia Pigmenti and Johnson neuroectodermal dysplasia)
Unità Operativa Semplice di Genetica Clinica Dipartimento Ostetrico-Ginecologico e Pediatrico Arcispedale S. Maria Nuova Viale Risorgimento, 80 42100 Reggio Emilia Italy Dr.ssa Livia Garavelli garavelli.livia@asmn.re.it Outpatient clinic for Genodermatoses or rare diseases (Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, and Incontinentia Pigmenti)
U.O. Riabilitazione Infantile Terzo Livello Arcispedale Santa Maria Nuova Viale Risorgimento 80 42100 Reggio Emilia Italy Prof. Adriano Ferrari Dr. Silvia Sassi sassi.silvia@asmn.re.it Outpatient clinic for Rehabilitative clinic (for Incontinentia pigmenti)
VII Division of Paediatric Dermatology Istituto Dermopatico dell’Immacolata, IDI-IRCCS Via dei Monti di Creta 104 00167 Rome Italy Dr. Corrado Angelo c.angelo@idi.it Outpatient clinic for Genodermatoses and rare diseases
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U.O. di Dermatologia Azienda Ospedaliera Spedali Civili di Brescia Piazzale Spedali Civili 1 25123 Brescia ITALY Dr. Andrea Brezzi Prof. Piergiacomo Calzavara Pinton Prof. Marina Colombi Dr. Marina Venturini dermatologia@spedalicivili. brescia.it
CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering) via Comunale Margherita 482 Naples Italy 80145 Dr. Caterina Missero missero@ceinge.unina.it Molecular analysis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Department of Specialistic and Experimental Clinical Medicine, Division of Clinical Dermatology University of Bologna via Massarenti 1 Bologna 40138 Italy Prof. Claudio Varotti Dr. Beatrice Passarini beatrice.passarini@unibo.it Histology/ Immunohistochemistry of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome) Histology/ Immunohistochemistry of Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) Histology/ Immunohistochemistry of Cleft lip/palate-ectodermal dysplasia syndrome Histology/ Immunohistochemistry of Clouston syndrome Histology/ Immunohistochemistry of Dyskeratosis congenita Histology/ Immunohistochemistry of Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome) Histology/ Immunohistochemistry of Focal dermal hypoplasia syndrome Histology/ Immunohistochemistry of Hypohidrotic ectodermal displasia Histology/ Immunohistochemistry of Incontinentia pigmenti Histology/ Immunohistochemistry of Orofaciodigital syndrome type I Histology/ Immunohistochemistry of Rapp-Hodgkin syndrome Histology/ Immunohistochemistry of Rothmund-Thomson syndrome Histology/ Immunohistochemistry of Trichodental syndrome
Human Molecular genetics Institute of Genetics and Biophysics Via P.Castellino 111 Naples Italy 80131 Dr. Matilde Valeria Ursini Dr. Francesca Fusco ursini@igb.cnr.it fuscof@igb.crn.it Molecular analysis of Hypohidrotic ectodermal dysplasia, with immune deficiency Molecular analysis of Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema Molecular analysis of Incontinentia pigmenti
Laboratorio di Biologia molecolare e Genetica "Cante di Montevecchio" Associazione Cante di Montevecchio Via Negusanti s.n. Fano (PU) 61032 Italy Dr. Luigia Varriale luigia.varriale@genetica-cante.it Molecular diagnosis of hypohidrotic ectodermal dysplasia
TIGEM - Telethon Institute of Genetics and Medicine Via Pietro Castellino 111 Naples Italy 80131 Dr. Brunella Franco franco@tigem.it Molecular diagnosis of Orofaciodigital sindrome type I
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U.O. di Dermatologia Azienda Ospedaliera Spedali Civili di Brescia Piazzale Spedali Civili 1 25123 Brescia ITALY Dr. Andrea Brezzi Prof. Piergiacomo Calzavara Pinton Prof. Marina Colombi Dr. Marina Venturini dermatologia@spedalicivili. brescia.it
CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering) via Comunale Margherita 482 Naples Italy 80145 Dr. Caterina Missero missero@ceinge.unina.it Project title: Pathogenetic mechanisms underlying the AEC syndrome: generation of mouse models and characterization of target genes
Department of Structural and Functional Biology Molecular Genetics University of Naples "Federico II" via Cinzia, 26 Naples Italy 80126 Prof. Girolama La Mantia lamantia@unina.it Project title: a molecular and functional study on p63 mutant proteinsoccurring in EEC, AEC and other human hereditary ectodermal syndromes
Department of Structural and Functional Biology University of Naples "Federico II" via Cinzia, 26 Naples Italy 80126 Prof. Maria Furia Dr. Mimmo Turano mimmo.turano@unina.it Project title: Expression and biological role of the human DKC1 gene and its orthologue in D. melanogaster
Human Molecular genetics Institute of Genetics and Biophysics Via P.Castellino 111 Naples Italy 80131 Dr. Matilde Vaerlia Ursini Dr. Francesca Fusco ursini@igb.cnr.it fuscof@igb.cnr.it Project title: Unravelling the molecular mechanisms of impaired NEMO function in IP pathogenesis
Telethon Institute of Genetics and Medicine Via Pietro Castellino 111 Naples Italy 80131 Dr. Brunella Franco franco@tigem.it Project title: the molecular basis of Oral-facial-digital type 1 syndrome
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