Zobrazeno 1 - 10
of 4 292
pro vyhledávání: '"Bardet–Biedl syndrome"'
Autor:
Cetiner M; Children's Hospital, Pediatrics II, Pediatric Nephrology, University of Duisburg-Essen, Essen, Germany. metin.cetiner@uk-essen.de., Finkelberg I; Children's Hospital, Pediatrics II, Pediatric Nephrology, University of Duisburg-Essen, Essen, Germany., Schiepek F; Children's Hospital, Pediatrics II, Pediatric Nephrology, University of Duisburg-Essen, Essen, Germany., Pape L; Children's Hospital, Pediatrics II, Pediatric Nephrology, University of Duisburg-Essen, Essen, Germany., Hirtz R; Children's Hospital, Pediatrics II, Pediatric Nephrology, University of Duisburg-Essen, Essen, Germany., Büscher AK; Children's Hospital, Pediatrics II, Pediatric Nephrology, University of Duisburg-Essen, Essen, Germany.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 12; Vol. 19 (1), pp. 425. Date of Electronic Publication: 2024 Nov 12.
Autor:
Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Di Biagio M; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Carraro L; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Rossetto G; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Scarpelli L; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Scognamillo I; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Signorini S; Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63723. Date of Electronic Publication: 2024 May 27.
Autor:
Pincay J; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA.; State University of New York at Downstate Medical Center, Brooklyn, NY, USA., Rodriguez M; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA., Kaushal D; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA., Tsang SH; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA. sht2@cumc.columbia.edu.; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY, USA. sht2@cumc.columbia.edu.
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2024 Oct; Vol. 149 (2), pp. 133-138. Date of Electronic Publication: 2024 Jul 30.
Autor:
Kanitkar S; General Medicine, Dr D Y Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India., Ande SP; General Medicine, Dr D Y Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India andepriya181@gmail.com., Shivnitwar SK; General Medicine, Dr D Y Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India., Edara M; General Medicine, Dr D Y Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2024 Nov 14; Vol. 17 (11). Date of Electronic Publication: 2024 Nov 14.
Autor:
Dollfus H; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. dollfus@unistra.fr.; Université de Strasbourg, UMRS_1112, Strasbourg, France. dollfus@unistra.fr., Lilien MR; ERKNet Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands., Maffei P; Endo-ERN Department of Medicine (DIMED), 3rd Medical Clinic, Padua University, Padua, Italy., Verloes A; ERN-ITHACA Department of Genetics, AP-HP - Université de Paris; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert Debré, Paris, France., Muller J; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Bacci GM; ERN-EYE Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy., Cetiner M; ERKNet Children's Hospital, Pediatrics II, University of Essen, Essen, Germany., van den Akker ELT; Endo-ERN Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands., Grudzinska Pechhacker M; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Testa F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Lacombe D; ERN-ITHACA Department of Medical Genetics, CHU Bordeaux, INSERM Unit_1211, Laboratory 'Rare Diseases: Genetics and Metabolism', University of Bordeaux, Bordeaux, France., Stokman MF; ERKNet Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Simonelli F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Gouronc A; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Université de Strasbourg, UMRS_1112, Strasbourg, France.; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Gavard A; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., van Haelst MM; ERN-ITHACA Department of Human Genetics, Section Clinical Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Koenig J; ERKNet University Children's Hospital Muenster, Muenster, NRW, Germany., Rossignol S; Endo-ERN Département de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Zacchia M; ERKNet Division of Nephrology, Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Leroy BP; ERN-EYE Department of Ophthalmology & Department of Head & Skin, Ghent University Hospital and Ghent University, Ghent, Belgium.; Center for Cellular and Molecular Therapeutics and Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mosbah H; Endo-ERN Department of Endocrinology, Diabetology & Nutrition, University Hospital of Poitiers, Poitiers, France., Van Eerde AM; ERKNet Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mekahli D; ERKNet PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Servais A; ERKNet Department of Kidney and Metabolic Diseases, Transplantation and Clinical Immunology, Necker Hospital, AP-HP, Centre of Reference for the French Nationwide MARHEANetwork (CNR-MARHEA), Paris, France.; Inserm U1163, Imagine Institute, Paris, France., Poitou C; Endo-ERN Centre de Référence pour les obésités rares (CRMR PRADORT), Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Sorbonne Université, INSERM, Nutrition & Obesities: Systemic Approaches Research Group (NutriOmics), Paris, France., Valverde D; CINBIO, Universidad de Vigo, Grupo de Investigación en Enfermedades Raras, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Vigo, Spain.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1347-1360. Date of Electronic Publication: 2024 Jul 31.
Autor:
Yavuz Saricay L; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Baldwin G; Harvard Medical School, Boston, Massachusetts, USA., Moulton EA; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Anesthesia, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Brain and Eye Pain Imaging Lab, Pain and Affective Neuroscience Center, Boston, Massachusetts, USA., Gonzalez E; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Rajabi F; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Oct; Vol. 45 (5), pp. 435-440. Date of Electronic Publication: 2024 Jul 02.
Autor:
Cetiner M; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Bergmann C; Human genetic diagnostics, Medical Genetics Mainz, Mainz, Germany., Bettendorf M; Pediatric Endocrinology and Diabetes, Heidelberg University Hospital Department of General Pediatrics Pediatric Neurology Metabolic Diseases Gastroenterology and Nephrology, Heidelberg, Germany., Faust J; Psychiatry and psychotherapy, Max-Planck-Institute for Psychiatry, München, Germany., Gäckler A; Department of Nephrology, University Hospital Essen, Essen, Germany., Gillissen B; Bardet Biedl syndrome Working Group, PRO RETINA Deutschland e V, Bonn, Germany., Hansen M; KFH Kidney Center for Children and Adolescents, Clementine Children's Hospital - Dr Christ'sche Foundation, Frankfurt am Main, Germany., Kerber M; Bardet Biedl syndrome Working Group, PRO RETINA Deutschland e V, Bonn, Germany., Klaus G; KFH Kidney Center for Children and Adolescents, University Hospitals Giessen and Marburg Campus Giessen, Marburg, Germany., König J; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Kühlewein L; Department of Ophthalmology, University Hospital Tübingen Clinic of Ophthalmology, Tübingen, Germany., Oh J; Pediatric Nephrology, University Medical Center Hamburg-Eppendorf Department of Pediatrics, Hamburg, Germany., Richter-Unruh A; Department of Pediatric Endocrinology and Diabetology, University Hospital of the Ruhr University Bochum, Bochum, Germany., von Schnurbein J; Department of Pediatrics and Adolescent Medicine, Ulm University Hospital, Ulm, Germany., Wabitsch M; Department of Pediatrics and Adolescent Medicine, Ulm University Hospital, Ulm, Germany., Weihrauch-Blüher S; Department of Pediatrics I, University Hospital Halle, Halle, Germany., Pape L; Department of Pediatrics II, University Hospital Essen, Essen, Germany.
Publikováno v:
Klinische Padiatrie [Klin Padiatr] 2024 Sep; Vol. 236 (5), pp. 269-279. Date of Electronic Publication: 2024 Mar 08.
Autor:
Shende A; Department of Dermatology, HBTMC and R N Cooper Hospital, Vile Parle, Mumbai, India., Rambhia K; Department of Dermatology, HBTMC and R N Cooper Hospital, Vile Parle, Mumbai, India., Kapadia F; Department of Dermatology, HBTMC and R N Cooper Hospital, Vile Parle, Mumbai, India.
Publikováno v:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2024 Sep-Oct; Vol. 90 (5), pp. 681.
Autor:
Li M; Optometry Center, Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, China., Li Y; Optometry Center, Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, China., Wen T; Optometry Center, Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, China., Zhou H; National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China., Xie W; National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
Publikováno v:
The Journal of international medical research [J Int Med Res] 2024 Aug; Vol. 52 (8), pp. 3000605241274239.
Autor:
Stellacci E; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy., Niceta M; Genetica Molecolare e Genomica Funzionale, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Bruselles A; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy., Straface E; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy., Tatti M; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy., Carvetta M; Genetica Molecolare e Genomica Funzionale, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Mancini C; Genetica Molecolare e Genomica Funzionale, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Cecchetti S; Confocal Microscopy Unit-Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy., Parravano M; Fondazione Bietti, IRCCS, 00198 Rome, Italy., Barbano L; Fondazione Bietti, IRCCS, 00198 Rome, Italy., Varano M; Fondazione Bietti, IRCCS, 00198 Rome, Italy., Tartaglia M; Genetica Molecolare e Genomica Funzionale, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Ziccardi L; Fondazione Bietti, IRCCS, 00198 Rome, Italy., Cordeddu V; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jul 30; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 30.