Connective Tissue - Specialized Centers
CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Department of Dermatology, Venereology and Allergology |
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CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Center for Medical Genetics Ghent University Hospital C. Heymanslaan 10 9000 Ghent Belgium Clinical service: Outpatient clinic for Cutis laxa: Prof. Dr. Bert Callewaert Bert.Callewaert@Ugent.be Outpatient clinic for Ehlers-Danlos syndrome (all variants): Prof. Dr. Fransiska Malfait Fransiska.Malfait@Ugent.be Outpatient clinic for Pseudoxanthoma Elasticum: Prof. Dr. Olivier Vanakker Olivier.Vanakker@Ugent.be Outpatient clinic for arterial tortuosity syndrome/aortic aneurysm syndromes: Prof. Dr. Bert Callewaert Bert.Callewaert@Ugent.be |
Center for Medical Genetics
Ghent University Hospital C. Heymanslaan 10 9000 Ghent Belgium Molecular diagnosis: Molecular diagnosis of Ehlers-Danlos syndrome, all types: Paul.Coucke@Ugent.be Sofie.Symoens@Ugent.be Fransiska.Malfait@Ugent.be
Molecular diagnosis of Cutis laxa, all types: and geroderma osteodysplasticum: Paul.Coucke@Ugent.be Olivier.Vanakker@Ugent.be
Molecular diagnosis of arterial tortuosity syndrome and arterial aneurysm syndromes: Paul.Coucke@Ugent.be
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Center for Medical Genetics
Ghent University Hospital C. Heymanslaan 10 9000 Ghent Belgium Research: Project title: Clinical, biochemical, ultrastructural characterization in cutis laxa. Unraveling of the molecular causes and disease mechanisms in cutis laxa. Bert.Callewaert@Ugent.be
Project title: Clinical characterization, molecular causes and disease mechanisms in arterial tortuosity syndrome:
Project title:
Unravelling the molecular -genetic basis of hereditary disorders of Pseudoxanthoma Elasticum:
Olivier.Vanakker@Ugent.be
Project title: Integration of the clinical, ultrastructural, biochemical and molecular-genetic findings in the Ehlers-Danlos syndrome Exploration of the clinical characteristics and genetic determinants of ectopic mineralization disorders. Project title: Clinical characterization, molecular causes and disease mechanisms in hereditable disorders of the thoracic aorta
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CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Department of Pediatric Dermatology
Children's Hospital - Faculty Hospital Brno, Masaryk University Brno Genodermatoses Center Cernopolni 9 66263 Brno Czech Republic Hana Buckova Assist. Prof., MD., Ph.D. buckova.hana@fnbrno.cz Blanka Pinková MD pinkova.blanka@fnbrno.cz Jana Kýrová MD., Ing. jana.kyrova@email.cz Outpatient clinic for Genodermatoses or rare diseases |
Centre of Molecular Biology and Genetics (CMBG)
Faculty Hospital Brno, Masaryk University Brno Jihlavská 20 62500 Brno Czech Republic Lenka Fajkusová, Assist. Prof., Ph.D. fajkusova.lenka@fnbrno.cz Lenka Kopecková, Ph.D. kopeckova.lenka@fnbrno.cz Romana Borská, Mgr. borska.romana@fnbrno.cz Molecular diagnosis of Genodermatoses and rare diseases |
Centre of Molecular Biology and Genetics (CMBG)
Faculty Hospital Brno, Masaryk University Brno Jihlavská 20 62500 Brno Czech Republic Lenka Fajkusová, Assist. Prof., Ph.D. fajkusova.lenka@fnbrno.cz Lenka Kopecková, Ph.D. kopeckova.lenka@fnbrno.cz Romana Borská, Mgr. borska.romana@fnbrno.cz Molecular diagnosis of Genodermatoses and rare diseases |
CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Center for applied Human Molecular Genetics Kennedy Center |
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CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Department of Dermatology and Pediatric Dermatology, National reference centre for rare skin diseases
CHU de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie Raba Léon, Bordeaux France 33076 cedex Prof. Alain Taïeb alain.taieb@chu-bordeaux.fr Dr. Fanny Morice-Picard
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology
Necker hospital for sick children MAGEC centre, Dermatology department Service de Dermatologie Outpatient clinic for Genodermatoses or rare diseases
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MAGEC centre, Dermatology department |
Dermatologic Diseases MAGEC centre, Dermatology department |
CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Center for Human Genetics Freiburg
SYNLAB MVZ Humangenetik Freiburg GmbH
Heinrich-von-Stephan-Str. 5 Freiburg 79100 Germany Prof. Dr. Jürgen Kohlhase, MD juergen.kohlhase@synlab.com Outpatient clinic for Genodermatoses or rare diseases (Ehlers-Danlos syndrome, classic and vascular types)
Department of Dermatology
Center for Rare and Genetic Skin Diseases
Department of Dermatology
Ludwig-Maximilian University Munich Hauptstraße 7 80337 Munich
Germany
Prof. Dr. med. Kathrin Giehl
Outpatient clinic for genodermatoses and rare skin diseases
Outpatient clinic for Pediatric Dermatology
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Center for Human Genetics Freiburg
SYNLAB MVZ Humangenetik Freiburg GmbH
Heinrich-von-Stephan-Str. 5 Freiburg 79100 Germany Prof. Dr. Jürgen Kohlhase, MD Molecular diagnosis of Ehlers-Danlos syndrome, classic type
Molecular diagnosis of Ehlers-Danlos syndrome, vascular type Universitätsklinikum Heidelberg
Institute of Pathology Heidelberg IPH EM-Labor INF 224 69120 Heidelberg GERMANY Dr. Ingrid Haußer-Siller Ingrid.Hausser-Siller@med.uni-heidelberg.de Ultrastructural analysis/electron microscopy of connective tissue disorders
Center for Human Genetics and Laboratory Diagnostics DIAGENOS Institute of Human Genetics |
Center for Human Genetics and Laboratory Diagnostics Physiological Psychology Institute of Human Genetics |
CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Department of Dermatology, Venereology and Dermatooncology
Semmelweis University
Budapest
Maria utca 41
Hungary
H-1085
Dr. Marta Medvecz
Dr. Norbert Kiss
medvecz.marta@med.semmelweis-univ.hukiss.norbert@med.semmelweis-univ.hu Outpatient clinic for Genodermatoses and rare skin dirorders (Ehlers-Danlos syndome, Cutis laxa and Pseudoxanthoma elasticum) |
Department of Dermatology, Venereology and Dermatooncology
Semmelweis University
Budapest
Maria utca 41
Hungary
H-1085
Dr. Marta Medvecz
Dr. Norbert Kiss
medvecz.marta@med.semmelweis-univ.hu Histopathology and optical imaging techniques of Connective tissue disorders
Molecular diagnosis of Connective tissue disorders
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Department of Dermatology, Venereology and Dermatooncology
Semmelweis University
Budapest
Maria utca 41
Hungary
H-1085
Dr. Marta Medvecz
Dr. Norbert Kiss
medvecz.marta@med.semmelweis-univ.hu Project title: Novel non-invasive optical imaging techniques in rare dermatological disorders |
CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Department of Dermatology |
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CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Piazzale Spedali Civili 1
25123 Brescia
ITALY
Prof. Piergiacomo Calzavara Pinton
Prof. Marina Venturini
Prof. Marina Colombi
Outpatient clinic for heritable connective tissue disorders with cutaneous involvement, Epithelial adhesion disorders, Keratinization Disorders Foundation IRCCS-Casa Sollievo della Sofferenza
Viale Cappuccini 1
71013 San Giovanni Rotondo (Foggia), Italy
Marco Castori, MD, PhD
Clinical center for Ehlers-Danlos syndromes, Cutis laxa syndromes, pseudoxanthoma elasticum & TP63-related disorders
ARS RADIOLOGICA s.r.l. Centro per le malattie cutanee ereditarie Dermatologia - IRCCS Policlinico di S.Orsola
Dermatology, Department of Experimental, Diagnostic and Specialty Medicine
University of Bologna
Via Massarenti, 1 40138
Bologna, Italy
Dr Iria Neri
iria.neri@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, Epidermolysis bullosa, Ichthyosis, Vascular anomalies and others)
Dipartimento Medicina Interna e Specialità Mediche - Dermatologia Dipartimento di scienze dermatologiche Medical Genetic Unit Unità Operativa Semplice di Genetica Clinica U.O.C. Angiologia - ASL Bologna I Division of Dermatology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS Via dei Monti di Creta 104 00167 Rome Italy Dr. Biagio Didona b.didona@idi.it Center for Rare Diseases Dermatology Unit
Responsible: Dr May El Hachem
Dipartimento Pediatrico Universitario Ospedaliero
Ospedale Pediatrico Bambino Gesù, IRCCS Piazza S. Onofrio 4 00165 Roma ITALY Dr May El Hachem (chief Unit of Dermatology) Dr Andrea Diociaiuti Managing multidisciplinary approaches for genodermatoses and rare disorders (e.g.Epidermolysis bullosa, Ichthyosis, Incontinentia Pigmenti, ectodermal dysplasia, Ehlers-Danlos, palmo-plantar keratoderma) and for Vascular anomalies.
Immunofluorescence antigen mapping and electron microscopy for all disorders, if required
Pathology Unit
Responsible: Prof. Rita Alaggio Molecular testing for all the previous disorders in our laboratory of Genetic Medicine
Director: Dr Antonio Novelli
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Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Prof. Marina Colombi
Prof. Nicoletta Zoppi
Prof. Marina Venturini
Dr. Marco Ritelli
Dr. Nicola Chiarelli
Molecular analysis of hereditary Cutis laxa
Molecular analysis of Pseudoxantoma elasticum
Molecular analysis of Ehlers-Danlos syndrome, classical
Molecular analysis of Ehlers-Danlos syndrome, vascular
Molecular analysis of Ehlers-Danlos syndrome kyphoscoliotic
Molecular analysis of Ehlers-Danlos syndrome, arthrochalasis
Molecular analysis of Ehlers-Danlos syndrome, dermatosparaxis
Molecular analysis of Ehlers-Danlos syndrome, rare variants
Molecular analysis of arterial tortuosity syndrome
Molecular analysis of Epidermolysis bullosa dystrophic, dominant and recessive
Foundation IRCCS-Casa Sollievo della Sofferenza
Viale Cappuccini 1
71013 San Giovanni Rotondo (Foggia), Italy
Marco Castori, MD, PhD
Clinical center for Ehlers-Danlos syndromes, Cutis laxa syndromes, pseudoxanthoma elasticum & TP63-related disorders
Centro per le malattie cutanee ereditarie Department of Life Sciences Unit of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna,
via Massarenti 1, Bologna
40138 Italy
Laboratorio di Istopatologia
Dr. Cosimo Misciali
cosimo.misciali@unibo.it Histology/ Immunohistochemistry of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome),Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED),Cleft lip/palate-ectodermal dysplasia syndrome, Clouston syndrome, Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome), Focal dermal hypoplasia syndrome, Hypohidrotic ectodermal displasia, Incontinentia pigmenti, Orofaciodigital syndrome type I, Rapp-Hodgkin syndrome, Rothmund-Thomson syndrome, Trichodental syndrome Dipartimento Medicina Interna e Specialità Mediche - Dermatologia Dipartimento di scienze dermatologiche Laboratory of Molecular and Cell Biology |
Department of Molecular and Translational Medicine, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Prof. Marina Colombi
Prof. Nicoletta Zoppi
Dr. Marco Ritelli
Dr. Nicola Chiarelli
Research titles: Genomic, Transcriptomic and Proteomic studies on hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders
Study of the pathogenetic mechanisms involved in classical, vascular and hypermobile Ehlers-Danlos syndromes
Connective tissue disorders
Cutis laxa, hereditary
Ehlers-Danlos syndrome, arthrochalasis type
Ehlers-Danlos syndrome, classic al
Ehlers-Danlos syndrome, dermatosparaxis
Ehlers-Danlos syndrome, hypermobility
Ehlers-Danlos syndrome, kyphoscoliotic
Ehlers-Danlos syndrome, rare variants
Ehlers-Danlos syndrome, vascular
Pseudoxanthoma Elasticum
Arterial tortuosity syndrome
Foundation IRCCS-Casa Sollievo della Sofferenza
Viale Cappuccini 1
71013 San Giovanni Rotondo (Foggia), Italy
Marco Castori, MD, PhD
Clinical center for Ehlers-Danlos syndromes
Department of Life Sciences |
CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Service de Dermatologie et Vénéréologie |
Division of Human Genetics / Dept. of Paediatrics |
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CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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University Medical Center Groningen, Rijksuniversiteit Groningen
Postbus 30.001
9700 RB Groningen, The Netherlands
Department of Dermatology
Dr. M.C. Bolling, MD PhD, dermatologist
Department of Clinical Genetics
Dr. P.C. Van den Akker, MD PhD, Clinical Geneticist
Outpatient clinic for Genodermatoses or rare diseases
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CLINICAL CENTER | DIAGNOSTIC CENTER | RESEARCH CENTER |
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Genetic Skin Disease Group Division of Genetics and Molecular Medicine |
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