An exemplary model of genetic counselling for highly specialised services.

Autor: Harris J; National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK. juliette.harris1@nhs.net., Bartlett M; North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK., Baker D; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Berlin C; North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK., Bowen J; National Ehlers-Danlos Syndrome Service, Northern General Hospital, Sheffield, UK., Cummings C; National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK., Fallows C; Annabelle's Challenge Vascular EDS Charity, Bury, UK., Green C; National Ehlers-Danlos Syndrome Service, Northern General Hospital, Sheffield, UK., Griffin J; Annabelle's Challenge Vascular EDS Charity, Bury, UK., Julier K; The Ehlers-Danlos Support UK, Borehamwood, UK., Kammin T; National Ehlers-Danlos Syndrome Service, Northern General Hospital, Sheffield, UK., Sehra R; National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK., Stacey C; Annabelle's Challenge Vascular EDS Charity, Bury, UK., Cobben J; North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK., Ghali N; National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK., Johnson D; National Ehlers-Danlos Syndrome Service, Northern General Hospital, Sheffield, UK., Sobey G; National Ehlers-Danlos Syndrome Service, Northern General Hospital, Sheffield, UK., van Dijk FS; National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, HA1 3UJ, UK.

Publikováno v: Journal of community genetics [J Community Genet] 2023 Apr; Vol. 14 (2), pp. 115-119. Date of Electronic Publication: 2023 Mar 09.

Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.

Autor: Lepperdinger U; Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, Austria., Angwin C; National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK.; Department of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, London, UK., Milnes D; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Sobey G; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Ghali N; National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK.; Department of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, London, UK., Johnson D; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Brady AF; National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK.; Department of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, London, UK., Kammin T; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Bowen JM; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Gröbner R; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Lundberg P; Department of Molecular Periodontology, Umeå University, Umeå, Sweden., Scott J; Academic Unit of Restorative Dentistry, Sheffield University, Sheffield, UK., Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., van Dijk FS; National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK.; Department of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, London, UK., Kapferer-Seebacher I; Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, Austria.

Publikováno v: Journal of clinical periodontology [J Clin Periodontol] 2022 Dec; Vol. 49 (12), pp. 1244-1252. Date of Electronic Publication: 2022 Jul 29.

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 ).

Autor: Minatogawa M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan., Unzaki A; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project, Matsumoto, Japan., Morisaki H; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan., Syx D; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Sonoda T; Department of Occupational Therapy, School of Health and Science, Kyushu University of Health and Welfare, Nobeoka, Japan., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Slavotinek A; Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands., Lacassie Y; Department of Pediatrics, Louisiana State University Health Science Center, New Orleans, LA, USA.; Division of Clinical Genetics and Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA, USA., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Gahl WA; Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft CJ; Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Figuera LE; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maugeri A; Department of Clinical Genetics, VU University Medical Centre Amsterdam, Amsterdam, The Netherlands., Ishikawa K; Department of Pediatrics, Iwate Medical University, Morioka, Japan., Kobayashi T; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.; Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Graduate School of Medicine, Tohoku University, Senda, Japan., Aoki Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan., Ohura T; Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan., Kawame H; Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Miyagi Children's Hospital, Sendai, Japan.; Division of Clinical Genetics, Jikei University Hospital, Tokyo, Japan., Kono M; Department of Dermatology, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Japan.; Department of Dermatology and Plastic Surgery, Akita University Graduate School of Medicine School of Medicine, Akita, Akita, Japan., Mochida K; Department of Dermatology, University of Miyazaki Faculty of Medicine, Miyazaki, Japan., Tokorodani C; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan., Kikkawa K; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan., Morisaki T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan.; Division of Molecular Pathology, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.; Department of Internal Medicine, IMSUT Hospital, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan., Kobayashi T; Department of Internal Medicine, Nagano Chuo Hospital, Nagano, Japan., Nakane T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan., Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan., Ranells JD; Department of Pediatrics, University of South Florida, College of Medicine, Tampa, FL, USA., Migita O; Department of Clinical Genetics, St. Marianna University, School of Medicine, Kawasaki, Japan., Sobey G; EDS National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Kaur A; Department of Pediatrics (Genetics Division), Advanced Pediatric Cente, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India., Ishikawa M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan., Yamaguchi T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Malfait F; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan ktomoki@shinshu-u.ac.jp.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.; Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Sep; Vol. 59 (9), pp. 865-877. Date of Electronic Publication: 2021 Nov 23.

Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease

Autor: Hunter, W N, Cole, C, Mann, J A, Tiffin, N, Simpson, E, McLean, W H I, Sabroe, R A, Kroboth, K, Borradori, Luca, Kernland Lang, K, Smith, F J D, Wilson, N J, Beltraminelli, Helmut, Sobey, G J

Publikováno v: Wilson, N J; Cole, C; Kroboth, K; Hunter, W N; Mann, J A; McLean, W H I; Kernland Lang, K; Beltraminelli, Helmut; Sabroe, R A; Tiffin, N; Sobey, G J; Borradori, Luca; Simpson, E; Smith, F J D (2017). Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. British journal of dermatology, 176(1), pp. 270-274. Wiley-Blackwell 10.1111/bjd.14914

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c39079e0feaf764124d54921117050e
https://boris.unibe.ch/93943/8/bjd14914.pdf

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

Autor: Redman MG; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK., Wagner BE; Histopathology Department, Royal Hallamshire Hospital, Sheffield, UK., Cadden S; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Baker D; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Bowen JM; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Johnson D; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Sobey G; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.

Publikováno v: Ultrastructural pathology [Ultrastruct Pathol] 2021 Nov 02; Vol. 45 (6), pp. 414-420. Date of Electronic Publication: 2021 Sep 20.