Glaukom bei Frühgeburtlichkeit (FGK)

Autor: C Brenner, B Käsmann-Kellner, KW Ruprecht

Publikováno v: Klinische Monatsblätter für Augenheilkunde. 221

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::290a89d17c2e7c92ba1608e8ff787d7a
https://doi.org/10.1055/s-2004-835467

Visus- und Refraktionsentwicklung bei Kolobom und Aniridie

Autor: B Käsmann-Kellner, KW Ruprecht, H Klemm

Publikováno v: Klinische Monatsblätter für Augenheilkunde. 221

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e0e5d24eefddaf10158063eb59e2ccac
https://doi.org/10.1055/s-2004-835516

[Clinical aspects of ataxia teleangiectatica (Louis-Bar syndrome)]

Autor: Spang S, Lindemuth R, Käsmann B, Kw, Ruprecht

Publikováno v: Europe PubMed Central

Ataxia telangiectasia is an autosomal recessive inherited multisystem disease of childhood characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, immunological defects with increased susceptibility to infection and malignant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5b2b91e81a1486430a436e88041ca266
https://pubmed.ncbi.nlm.nih.gov/7791290

[Initial clinical experiences with the Dresden 3D display in conjunction with the Heidelberg Retina Tomograph (HRT)]

Autor: Urs Müller-Richter, Hj, Malig, Schwerdtner A, Lang M, Hille K, Kw, Ruprecht

Publikováno v: Europe PubMed Central

For years the Heidelberg Retina Tomograph has been an established method to diagnose early glaucomatous damages at the optic nerve head. The major difficulty consists in defining the outlayer of the optic nerve head in a 2-dimensional reflective or t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cfebda66c3cce9b80d08086dd79cbeac
http://europepmc.org/abstract/med/10528284

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Autor: Shaw ND; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA., Brand H; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Kupchinsky ZA; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Bengani H; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Plummer L; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Jones TI; Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Erdin S; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Williamson KA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Rainger J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Stortchevoi A; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA., Samocha K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Currall BB; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA., Dunican DS; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Collins RL; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, USA., Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Lek A; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Nassan M; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota, USA., Pereira S; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Kammin T; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Lucente D; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA., Silva A; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA., Seabra CM; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.; GABBA Program, University of Porto, Porto, Portugal., Chiang C; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA., An Y; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA., Ansari M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Rainger JK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Joss S; West of Scotland Genetics Service, South Glasgow University Hospitals, Glasgow, UK., Smith JC; Faculty of Medical and Human Sciences, Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Lippincott MF; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Singh SS; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Patel N; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Jing JW; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Law JR; Division of Pediatric Endocrinology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Ferraro N; Department of Oral and Maxillofacial Surgery, Boston Children's Hospital, Boston, Massachusetts, USA., Verloes A; Department of Genetics, Robert Debré Hospital, Paris, France., Rauch A; Institute of Medical Genetics and Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Schlieren-Zurich, Switzerland., Steindl K; Institute of Medical Genetics and Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Schlieren-Zurich, Switzerland., Zweier M; Institute of Medical Genetics and Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Schlieren-Zurich, Switzerland., Scheer I; Department of Diagnostic Imaging, Children's Hospital, Zurich, Switzerland., Sato D; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan., Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan., Jacobsen C; Division of Endocrinology and Genetics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Tryggestad J; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Chernausek S; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Schimmenti LA; Departments of Otorhinolaryngology and Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Brasseur B; DeWitt Daughtry Family Department of Surgery, University of Miami Leonard M. Miller School of Medicine, Miami, Florida, USA., Cesaretti C; Medical Genetics Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy., García-Ortiz JE; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico., Buitrago TP; Fundación Hospital Infantil Universitario de San José, Bogotá, Colombia., Silva OP; Academia Nacional de Medicina de Colombia, Bogotá, Colombia., Hoffman JD; Divisions of Genetics and Maternal Fetal Medicine, Tufts Medical Center, Boston, Massachusetts, USA., Mühlbauer W; Department of Plastic and Aesthetic Surgery, ATOS Klinik, Munich, Germany., Ruprecht KW; Department of Ophthalmology, University Hospital of the Saarland, Homburg, Germany., Loeys BL; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Shino M; Department of Otolaryngology and Head and Neck Surgery, Gunma University Graduate School of Medicine, Gunma, Japan., Kaindl AM; Biology and Neurobiology, Charité-University Medicine Berlin and Berlin Institute of Health, Berlin, Germany., Cho CH; Department of Diagnostic, Interventional and Pediatric Radiology, Inselspital, University Hospital of Bern, Bern, Switzerland., Morton CC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Meehan RR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., van Heyningen V; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Liao EC; Center for Regenerative Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Division of Plastic and Reconstructive Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.; Harvard Stem Cell Institute, Cambridge, Massachusetts, USA., Balasubramanian R; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Hall JE; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA., Seminara SB; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Macarthur D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Moore SA; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Yoshiura KI; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Gusella JF; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Graham JM Jr; Department of Pediatrics, Cedars Sinai Medical Center, Los Angeles, California, USA., Lin AE; Medical Genetics, MassGeneral Hospital for Children and Harvard Medical School, Boston, Massachusetts, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Jones PL; Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Crowley WF Jr; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK., Talkowski ME; Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Publikováno v: Nature genetics [Nat Genet] 2017 Feb; Vol. 49 (2), pp. 238-248. Date of Electronic Publication: 2017 Jan 09.