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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav, F Buket; Cesarato, Nicole; Kumar, Sheetal; Borisov, Oleg; Kokordelis, Pavlos; Ralser, Damian J; Wehner, Maria; Axt, Daisy; Xiong, Xing; Thiele, Holger; Dolgin, Vadim; Gossmann, Yasmina; Fricker, Nadine; Dewenter, Malin Katharina; Weller, Karsten; Suri, Mohnish; Reichenbach, Herbert; Oji, Vinzenz; Addor, Marie-Claude; Ramirez, Karla; Stewart, Helen; Garcia Bartels, Natalie; Weibel, Lisa; Wagner, Nicola; George, Susannah; Kilic, Arzu; Tantcheva-Poor, Iliana; Stewart, Alison; Dikow, Nicola; Blaumeiser, Bettina; Medvecz, Márta; Blume-Peytavi, Ulrike; Farrant, Paul; Grimalt, Ramon; Bertok, Sara; Bradley, Lisa; Eskin-Schwartz, Marina; Birk, Ohad Samuel; Bygum, Anette; Simon, Michel; Krawitz, Peter; Fischer, Christine; Hamm, Henning; Fritz, Günter; Betz, Regina C.
Afiliação
  • Basmanav FB; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Cesarato N; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Kumar S; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Borisov O; Institute for Genomic Statistics and Bioinformatics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Kokordelis P; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Ralser DJ; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Wehner M; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Axt D; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Xiong X; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Dolgin V; Genetics Institute at Soroka University Medical Center, Beer-Sheva, Israel.
  • Gossmann Y; Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases at the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Fricker N; National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Dewenter MK; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Weller K; Institute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Suri M; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Reichenbach H; Department of Dermatology, Venereology and Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Oji V; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, England, United Kingdom.
  • Addor MC; MVZ Mitteldeutscher Praxisverbund Humangenetik, Praxis Leipzig, Leipzig, Germany.
  • Ramirez K; Department of Dermatology, University of Münster, Münster, Germany.
  • Stewart H; Department of Woman-Mother-Child, University Hospital Center CHUV CH 1011, Lausanne, Switzerland.
  • Garcia Bartels N; Neurología Pediátrica, Division de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Weibel L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, England, United Kingdom.
  • Wagner N; Department of Dermatology, Venereology and Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • George S; Pediatric Dermatology Department, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland.
  • Kilic A; Dermatology Department, University Hospital Zurich, Zurich, Switzerland.
  • Tantcheva-Poor I; Department of Dermatology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Stewart A; Dermatology Department, Brighton General Hospital, University Hospitals Sussex NHS Foundation Trust, Brighton, England, United Kingdom.
  • Dikow N; Department of Dermatology, Faculty of Medicine, Balikesir University, Balikesir, Turkey.
  • Blaumeiser B; Department of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany.
  • Medvecz M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, South Yorkshire, England, United Kingdom.
  • Blume-Peytavi U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Farrant P; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Grimalt R; Department of Dermatology, Venereology, and Dermatooncology, Semmelweis University, Budapest, Hungary.
  • Bertok S; Department of Dermatology, Venereology and Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Bradley L; Dermatology Department, Brighton General Hospital, University Hospitals Sussex NHS Foundation Trust, Brighton, England, United Kingdom.
  • Eskin-Schwartz M; Universitat Internacional de Catalunya, Barcelona, Spain.
  • Birk OS; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre, Ljubljana, Slovenia.
  • Bygum A; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Simon M; Genetics Institute at Soroka University Medical Center, Beer-Sheva, Israel.
  • Krawitz P; Genetics Institute at Soroka University Medical Center, Beer-Sheva, Israel.
  • Fischer C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Hamm H; Clinical Institute, University of Southern Denmark, Odense, Denmark.
  • Fritz G; Toulouse Institute for Infectious and Inflammatory diseases, Toulouse University, Toulouse, France.
  • Betz RC; CNRS, Inserm, Paul Sabatier Toulouse III University, Toulouse, France.
JAMA Dermatol ; 158(11): 1245-1253, 2022 11 01.
Article em En | MEDLINE | ID: mdl-36044230
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças do Cabelo Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: JAMA Dermatol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças do Cabelo Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: JAMA Dermatol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha