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Tytuł:
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Autorzy:
Abosabie SAS; Faculty of Medicine, Julius-Maximilians-Universität Würzburg, Wurzburg, Germany.
Abosabie SA; Faculty of Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Alfaifi J; Department of Child Health, College of Medicine, University of Bisha, Bisha, Saudi Arabia.
Alqahtani YA; Department of Child Health, College of Medicine, King Khalid University, Abha, Saudi Arabia.
Shati AA; Department of Child Health, College of Medicine, King Khalid University, Abha, Saudi Arabia.
Alotaibi NA; Department of Pediatrics, Alhada Armed Forces Hospital, Taif, Saudi Arabia.
Alghamdi OA; Faculty of Medicine, Taif University, Taif, Saudi Arabia.
Alotaibi GN; Faculty of Medicine, Taif University, Taif, Saudi Arabia.
Baabdullah AA; College of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.
Kabrah LK; Faculty of Medicine, Taif University, Taif, Saudi Arabia.
Kamal NM; Department of Pediatrics and Pediatric Hepatology, Kasralainy Faculty of Medicine, Cairo, Egypt.
Oshi MAM; Departement of Pediatrics, Gaafar Ibnauf Children's Emergency Hospital, Khartoum, Sudan.
Abdallah EAA; Department of Pediatrics and Pediatric Hepatology, Kasralainy Faculty of Medicine, Cairo, Egypt.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2314. Date of Electronic Publication: 2023 Nov 08.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Alstrom Syndrome*/genetics
Alstrom Syndrome*/diagnosis
Cardiomyopathies*
Humans ; Cell Cycle Proteins/genetics ; Extended Family ; Saudi Arabia ; Obesity ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes.
Autorzy:
Bea-Mascato B; CINBIO Facultad de Biología, Universidad de Vigo, Campus As Lagoas-Marcosende s/n, Vigo, 36310, Spain.; Grupo de Investigación en Enfermedades Raras y Medicina Pediátrica, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain.
Gómez-Castañeda E; Molecular and Cellular Immunology Section, Great Ormond Street Institute of Child Health, University College London, London, UK.
Sánchez-Corrales YE; Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London, UK.
Castellano S; Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London, UK.; Zayed Centre for Research into Rare Disease in Children, UCL Genomics, University College London, London, UK.
Valverde D; CINBIO Facultad de Biología, Universidad de Vigo, Campus As Lagoas-Marcosende s/n, Vigo, 36310, Spain. .; Grupo de Investigación en Enfermedades Raras y Medicina Pediátrica, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain. .
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Źródło:
Biology direct [Biol Direct] 2023 Dec 08; Vol. 18 (1), pp. 84. Date of Electronic Publication: 2023 Dec 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Mellitus, Type 2*/metabolism
Alstrom Syndrome*/genetics
Alstrom Syndrome*/metabolism
Humans ; Lipid Metabolism ; Proteome/metabolism ; Phosphatidylinositol 3-Kinases/metabolism ; Proteomics ; Proto-Oncogene Proteins c-akt ; Cell Cycle Proteins/metabolism ; Transforming Growth Factor beta/metabolism ; Extracellular Matrix/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.
Autorzy:
Dedeoglu S; Department of Pediatrics, Uskudar University, Istanbul, Turkey.
Dede E; Department of Pediatric Cardiology, Cerrahpasa Medical School, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
Oztunc F; Department of Pediatric Cardiology, Cerrahpasa Medical School, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
Gedikbasi A; Division of Medical Genetics, Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, Turkey.
Yesil G; Department of Medical Genetics, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Dedeoglu R; Department of Pediatric Cardiology, Cerrahpasa Medical School, Istanbul University-Cerrahpaşa, Istanbul, Turkey. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 15; Vol. 17 (1), pp. 359. Date of Electronic Publication: 2022 Sep 15.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Alstrom Syndrome*/diagnosis
Alstrom Syndrome*/genetics
Cardiomyopathies*/genetics
Cardiomyopathy, Dilated*/diagnosis
Cardiomyopathy, Dilated*/genetics
Adult ; Child ; Homozygote ; Humans ; Mutation/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome.
Autorzy:
Huang L; Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Guo M; Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Zhou Y; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Liang T; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Li N; Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, Beijing, China.; Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing, China.; Department of Ophthalmology, Children's Hospital, Capital Institute of Pediatrics, Beijing, .
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2022 Aug; Vol. 43 (4), pp. 573-575. Date of Electronic Publication: 2022 Jul 04.
Typ publikacji:
Letter
MeSH Terms:
Alstrom Syndrome*/diagnosis
Alstrom Syndrome*/genetics
Asian People/genetics ; Cell Cycle Proteins/genetics ; China/epidemiology ; Humans ; Mutation
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Alström Syndrome with Early Vision and Hearing Impairement.
Autorzy:
Beqiri-Jashari A; University Clinic for Paediatrics, Medical Faculty Skopje, RN Macedonia.
Janchevska A; University Clinic for Paediatrics, Medical Faculty Skopje, RN Macedonia.
Ahmeti I; University Clinic for Endocrinology, Diabetes and Metabolic Diseases, Medical Faculty Skopje, RN Macedonia.
Doksimovski F; University Clinic for Paediatrics, Medical Faculty Skopje, RN Macedonia.
Cipanovska M; University Clinic for Paediatrics, Medical Faculty Skopje, RN Macedonia.
Teov B; University Clinic for Paediatrics, Medical Faculty Skopje, RN Macedonia.
Stefanovska ES; Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, Skopje Macedonia.
Plaseska-Karanfilska D; Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, Skopje Macedonia.
Gucev Z; University Clinic for Paediatrics, Medical Faculty Skopje, RN Macedonia.
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Źródło:
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) [Pril (Makedon Akad Nauk Umet Odd Med Nauki)] 2022 Jul 13; Vol. 43 (2), pp. 159-162. Date of Electronic Publication: 2022 Jul 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Alstrom Syndrome*/complications
Alstrom Syndrome*/diagnosis
Alstrom Syndrome*/genetics
Diabetes Mellitus, Type 2*
Pediatric Obesity*
Cell Cycle Proteins/genetics ; Child ; Child, Preschool ; Hearing ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Consensus clinical management guidelines for Alström syndrome.
Autorzy:
Tahani N; Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Maffei P; Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.; Adult MTG3 Chair of ENDO-ERN, Azienda Ospedaliera Padova, Padua, Italy.
Dollfus H; Centre de référence pour les affections rares ophtalmologiques CARGO, FSMR SENSGENE, ERN-EYE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace, Université de Strasbourg, Strasbourg, France.
Paisey R; Diabetes Research Unit, Torbay and South Devon NHS Foundation Trust, Torquay, UK.
Valverde D; CINBIO (Centro de Investigacion Biomedica), Universidad de Vigo, Vigo, Spain.
Milan G; Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Han JC; Departments of Pediatrics and Physiology, College of Medicine, University of Tennessee Health Science Center and Pediatric Obesity Program, Children's Foundation Research Institute, Le Bonheur Children's Hospital, Memphis, TN, USA.
Favaretto F; Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Madathil SC; Department of Respiratory Medicine, University Hospital Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK.
Dawson C; Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Armstrong MJ; Liver and Hepatobiliary Unit, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK.
Warfield AT; Department of Cellular Pathology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK.
Düzenli S; Department of Medical Genetics, Abant İzzet Baysal University, Bolu, Turkey.
Francomano CA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Gunay-Aygun M; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Dassie F; Department of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Marion V; Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace, Université de Strasbourg, Strasbourg, France.
Valenti M; Italian Association Alström Syndrome, Padua, Italy.; ENDO-ERN ePAG representative in MTG3, Padua, Italy.
Leeson-Beevers K; Alström Syndrome UK, Torquay, Devon, UK.
Chivers A; Alström Syndrome UK, Torquay, Devon, UK.
Steeds R; Department of Cardiology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK.
Barrett T; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
Geberhiwot T; Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK. .; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 21; Vol. 15 (1), pp. 253. Date of Electronic Publication: 2020 Sep 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
MeSH Terms:
Alstrom Syndrome*/diagnosis
Alstrom Syndrome*/genetics
Alstrom Syndrome*/therapy
Child ; Consensus ; Humans ; Practice Guidelines as Topic ; Quality of Life
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Autorzy:
Gatticchi L; Department of Experimental Medicine, Laboratory of Biochemistry, University of Perugia, Perugia, Italy.
Miertus J; Génius n. o, Trnava, Slovakia.; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.
Maltese PE; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy. .
Bressan S; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.
De Antoni L; MAGI Euregio, Via Maso della Pieve, 60/A, 39100, Bolzano, Italy.
Podracká L; Department of Pediatrics, National Institute for Sick Children, Commenius University, Bratislava, Slovakia.
Piteková L; Department of Pediatrics, National Institute for Sick Children, Commenius University, Bratislava, Slovakia.
Rísová V; Institute of Histology and Embryology, Faculty of Medicine, Commenius University, Bratislava, Slovakia.
Mällo M; Asper Biogene LLC, Tartu, Estonia.
Jaakson K; Asper Biogene LLC, Tartu, Estonia.
Joost K; Asper Biogene LLC, Tartu, Estonia.
Colombo L; Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
Bertelli M; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.; MAGI Euregio, Via Maso della Pieve, 60/A, 39100, Bolzano, Italy.
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Źródło:
BMC medical genetics [BMC Med Genet] 2020 Sep 01; Vol. 21 (1), pp. 173. Date of Electronic Publication: 2020 Sep 01.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Early Diagnosis*
Mutation*
Alstrom Syndrome/*genetics
Cell Cycle Proteins/*genetics
High-Throughput Nucleotide Sequencing/*methods
Alstrom Syndrome/diagnosis ; Codon, Nonsense ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Infant
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.
Autorzy:
Lombardo B; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies, Naples, Italy.
D'Argenio V; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies, Naples, Italy.
Monda E; Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Cardiomyopathies and Heart Failure Department, Monaldi Hospital, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Vitale A; CEINGE Advanced Biotechnologies, Naples, Italy.; Department of Motor Science and Health, University of Naples, Parthenope, Naples, Italy.
Caiazza M; Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Cardiomyopathies and Heart Failure Department, Monaldi Hospital, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Sacchetti L; CEINGE Advanced Biotechnologies, Naples, Italy.
Pastore L; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies, Naples, Italy.
Limongelli G; Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Cardiomyopathies and Heart Failure Department, Monaldi Hospital, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Frisso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies, Naples, Italy.
Mazzaccara C; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies, Naples, Italy.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1260. Date of Electronic Publication: 2020 May 12.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alstrom Syndrome/*genetics
Cardiomyopathy, Dilated/*genetics
Genetic Testing/*methods
Adaptor Proteins, Signal Transducing/genetics ; Alstrom Syndrome/diagnosis ; Cadherin Related Proteins ; Cadherins/genetics ; Cardiomyopathy, Dilated/diagnosis ; Comparative Genomic Hybridization/methods ; Cytoskeletal Proteins/genetics ; Diagnosis, Differential ; Electron Transport Complex I/genetics ; Gene Deletion ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Whole Genome Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis.
Autorzy:
Baig S; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK.
Dowd R; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.
Edwards NC; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK.; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.
Hodson J; Institute of Translational Medicine, Queen Elizabeth Hospital, Birmingham, UK.
Fabritz L; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK.; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.
Vijapurapu R; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK.
Liu B; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK.
Geberhiwot T; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Steeds RP; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK. .; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK. .; Department of Cardiology, First Floor, Nuffield House, University Hospital Birmingham NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2GW, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jun 05; Vol. 15 (1), pp. 139. Date of Electronic Publication: 2020 Jun 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alstrom Syndrome*/pathology
Cardiomyopathies*/pathology
Adult ; Female ; Fibrosis ; Humans ; Magnetic Resonance Imaging ; Male ; Myocardium/pathology ; Prospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.
Autorzy:
Baig S; Centre for Rare Disease, Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2TH, UK.; Institute of Cardiovascular Science, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
Veeranna V; Centre for Rare Disease, Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2TH, UK.
Bolton S; Centre for Rare Disease, Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2TH, UK.
Edwards N; Institute of Cardiovascular Science, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.; Department of Cardiology, Queen Elizabeth Hospital, Edgbaston, Birmingham, B15 2TH, UK.
Tomlinson JW; Oxford Centre for Diabetes, Endocrinology & Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, OX3 7LJ, UK.
Manolopoulos K; Institute of Metabolism and Systems Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
Moran J; Prometic Pharma SMT Ltd., Horizon Park, Barton Road, Cambridge, CB23 7AJ, UK.
Steeds RP; Institute of Cardiovascular Science, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.; Department of Cardiology, Queen Elizabeth Hospital, Edgbaston, Birmingham, B15 2TH, UK.
Geberhiwot T; Centre for Rare Disease, Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2TH, UK. .; Institute of Metabolism and Systems Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. .; Inherited Metabolic Disorders, University Hospital Birmingham NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TH, UK. .
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2018 Nov 26; Vol. 18 (1), pp. 88. Date of Electronic Publication: 2018 Nov 26.
Typ publikacji:
Clinical Trial, Phase II; Journal Article
MeSH Terms:
Alstrom Syndrome/*diagnostic imaging
Alstrom Syndrome/*drug therapy
Anti-Inflammatory Agents/*therapeutic use
Liver Cirrhosis/*diagnostic imaging
Liver Cirrhosis/*drug therapy
Alstrom Syndrome/blood ; Anti-Inflammatory Agents/chemistry ; Female ; Humans ; Liver Cirrhosis/blood ; Male ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
Autorzy:
Nasser F; Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
Maffei P; Department of Medicine (DIMED), University of Padua, Padua, Italy.
Milan G; Department of Medicine (DIMED), University of Padua, Padua, Italy.
Heller C; CeGaT GmbH and Praxis fuer Humangenetik Tuebingen, Tuebingen, Germany.
Zrenner E; Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.; Werner Reichardt Centre for Integrative Neuroscience (CIN), Tuebingen, Germany.
Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
Kuehlewein L; Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2018 Jun; Vol. 96 (4), pp. e445-e454. Date of Electronic Publication: 2017 Nov 30.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Visual Acuity*
Visual Fields*
Alstrom Syndrome/*genetics
Cone-Rod Dystrophies/*genetics
DNA/*genetics
Proteins/*genetics
Adolescent ; Adult ; Alstrom Syndrome/diagnosis ; Alstrom Syndrome/metabolism ; Cell Cycle Proteins ; Child ; Cone-Rod Dystrophies/diagnosis ; Cone-Rod Dystrophies/metabolism ; DNA Mutational Analysis ; Electroretinography ; Female ; Genetic Testing ; Humans ; Male ; Pedigree ; Phenotype ; Proteins/metabolism ; Retina/diagnostic imaging ; Retina/physiopathology ; Tomography, Optical Coherence ; Visual Field Tests ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.
Autorzy:
Weiss S; a The Krieger Eye Research Laboratory , Felsenstein Medical Research Center , Petach Tikva , Israel.; b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
Cohen L; b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.; c Raphael Recanati Genetics Institute , Schneider Children's Medical Center of Israel , Petach Tikva , Israel.
Ben-Yosef T; d Rappaport Faculty of Medicine , Technion - Israel Institute of Technology , Haifa , Israel.
Ehrenberg M; e Pediatric Ophthalmology Unit , Schneider Children's Medical Center of Israel , Petach Tikva , Israel.
Goldenberg-Cohen N; a The Krieger Eye Research Laboratory , Felsenstein Medical Research Center , Petach Tikva , Israel.; d Rappaport Faculty of Medicine , Technion - Israel Institute of Technology , Haifa , Israel.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2019 Feb; Vol. 40 (1), pp. 7-11. Date of Electronic Publication: 2019 Jan 02.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Delayed Diagnosis*
Mutation*
Alstrom Syndrome/*diagnosis
Cell Cycle Proteins/*genetics
Adolescent ; Alstrom Syndrome/genetics ; Child ; Child, Preschool ; Genetic Testing ; Humans ; Israel ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spectral-domain optical coherence tomography findings in Alström syndrome.
Autorzy:
Dotan G; a Ophthalmology Department, Tel Aviv Medical Center, Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.; b Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.
Khetan V; b Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.; c Department of Vitreoretina and Ocular Oncology , Sankara Nethralaya , Chennai , India.
Marshall JD; d The Jackson Laboratory , Bar Harbor , Maine , USA.
Affel E; e Diagnostic Center, Wills Eye Hosptial , Philadelphia , Pennsylvania , USA.
Armiger-George D; f Bioptigen, Inc., Research Triangle Park , North Carolina , USA.
Naggert JK; d The Jackson Laboratory , Bar Harbor , Maine , USA.
Collin GB; d The Jackson Laboratory , Bar Harbor , Maine , USA.
Levin AV; b Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.; g Sidney Kimmel Medical College of Thomas Jefferson University , Philadelphia , Pennsylvania , USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2017 Sep-Oct; Vol. 38 (5), pp. 440-445. Date of Electronic Publication: 2017 Jan 23.
Typ publikacji:
Journal Article
MeSH Terms:
Tomography, Optical Coherence*
Alstrom Syndrome/*diagnostic imaging
Retinal Diseases/*diagnostic imaging
Adolescent ; Adult ; Alstrom Syndrome/genetics ; Cell Cycle Proteins ; Child ; Child, Preschool ; Female ; Fluorescein Angiography ; Humans ; Male ; Photoreceptor Cells, Vertebrate/pathology ; Proteins/genetics ; Retinal Pigment Epithelium/pathology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.
Autorzy:
Larrañaga-Fragoso P; a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
Pastora N; a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
Bravo-Ljubetic L; a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.; b Ophthalmology Department , Hospital Clínico San Borja Arriarán , Santiago , Chile.
Peralta J; a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
Abelairas-Gómez J; a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2016 Dec; Vol. 37 (4), pp. 427-429. Date of Electronic Publication: 2016 Feb 19.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Alstrom Syndrome/*drug therapy
Carbonic Anhydrase Inhibitors/*therapeutic use
Macular Edema/*drug therapy
Sulfonamides/*therapeutic use
Thiophenes/*therapeutic use
Administration, Topical ; Alstrom Syndrome/diagnosis ; Alstrom Syndrome/genetics ; Cell Cycle Proteins ; Female ; Humans ; Infant ; Macular Edema/diagnosis ; Macular Edema/genetics ; Ophthalmic Solutions ; Proteins/genetics ; Tomography, Optical Coherence ; Visual Acuity/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.
Autorzy:
Hostelley TL; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, 660 W. Redwood Street, Howard Hall 487, Baltimore, MD, 21201, USA.
Lodh S; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, 660 W. Redwood Street, Howard Hall 487, Baltimore, MD, 21201, USA.
Zaghloul NA; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, 660 W. Redwood Street, Howard Hall 487, Baltimore, MD, 21201, USA. .
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Źródło:
BMC genomics [BMC Genomics] 2016 May 03; Vol. 17, pp. 318. Date of Electronic Publication: 2016 May 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Gene Expression Profiling*
Phenotype*
Transcriptome*
Alstrom Syndrome/*genetics
Bardet-Biedl Syndrome/*genetics
Zebrafish/*genetics
Alstrom Syndrome/diagnosis ; Animals ; Bardet-Biedl Syndrome/diagnosis ; Computational Biology/methods ; Disease Models, Animal ; Gene Expression Regulation ; Gene Ontology ; Gene Regulatory Networks ; Light Signal Transduction ; Neural Pathways ; Visual Pathways
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
Autorzy:
Safieh LA; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Al-Otaibi HM; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Lewis RA; Department of Ophthalmology, Medicine, Pediatrics, Molecular and Human Genetics, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA.
Kozak I; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
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Źródło:
Middle East African journal of ophthalmology [Middle East Afr J Ophthalmol] 2016 Jan-Mar; Vol. 23 (1), pp. 139-41.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
Alstrom Syndrome/*genetics
Guanylate Cyclase/*genetics
Leber Congenital Amaurosis/*genetics
Proteins/*genetics
Receptors, Cell Surface/*genetics
Retina/*physiology
Retinal Dystrophies/*genetics
Alstrom Syndrome/diagnosis ; Alstrom Syndrome/physiopathology ; Cell Cycle Proteins ; Child ; Consanguinity ; DNA Mutational Analysis ; Electroretinography ; Female ; Humans ; Infant ; Leber Congenital Amaurosis/diagnosis ; Leber Congenital Amaurosis/physiopathology ; Pedigree ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/physiopathology ; Saudi Arabia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease.
Autorzy:
Van Groenendael S; London School of Economics, London, UK. .
Giacovazzi L; London School of Economics, London, UK. .
Davison F; London School of Economics, London, UK. .
Holtkemper O; Oliver Holtkemper, London, UK. .
Huang Z; London School of Economics, London, UK. .
Wang Q; London School of Economics, London, UK. .
Parkinson K; Alstrom UK, London, UK. .
Barrett T; Institute of Cancer and Genomic Sciences, University of Birmingham, London, UK. .
Geberhiwot T; Department of Endocrinology, University Hospital of Birmingham, London, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Nov 24; Vol. 10, pp. 149. Date of Electronic Publication: 2015 Nov 24.
Typ publikacji:
Journal Article
MeSH Terms:
Quality of Life*
Alstrom Syndrome/*economics
Alstrom Syndrome/*therapy
Patient-Centered Care/*economics
Rare Diseases/*economics
Rare Diseases/*therapy
Alstrom Syndrome/epidemiology ; Costs and Cost Analysis/methods ; Cross-Sectional Studies ; Humans ; Patient-Centered Care/methods ; Rare Diseases/epidemiology ; United Kingdom/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.
Autorzy:
Edwards NC; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK. .; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK. .
Moody WE; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.
Yuan M; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.
Warfield AT; Department of Pathology, Queen Elizabeth Hospital, Birmingham, England.
Cramb R; Department of Biochemistry, Queen Elizabeth Hospital, Birmingham, UK.
Paisey RB; Department of Diabetes, Torbay Hospital, Torbay, UK.
Geberhiwot T; Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK.
Steeds RP; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Jun 24; Vol. 10, pp. 83. Date of Electronic Publication: 2015 Jun 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alstrom Syndrome/*pathology
Cardiomyopathies/*pathology
Heart Ventricles/*pathology
Adolescent ; Adult ; Alstrom Syndrome/physiopathology ; Cardiomyopathies/physiopathology ; Female ; Heart Ventricles/physiopathology ; Humans ; Magnetic Resonance Imaging ; Male ; Ventricular Function, Left/physiology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance.
Autorzy:
Favaretto F; Department of Medicine, University of Padua, Padua, Italy.
Milan G; Department of Medicine, University of Padua, Padua, Italy.
Collin GB; The Jackson Laboratory, Bar Harbor, Maine, United States of America.
Marshall JD; The Jackson Laboratory, Bar Harbor, Maine, United States of America.
Stasi F; Department of Medicine, University of Padua, Padua, Italy.
Maffei P; Department of Medicine, University of Padua, Padua, Italy.
Vettor R; Department of Medicine, University of Padua, Padua, Italy.
Naggert JK; The Jackson Laboratory, Bar Harbor, Maine, United States of America.
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Źródło:
PloS one [PLoS One] 2014 Oct 09; Vol. 9 (10), pp. e109540. Date of Electronic Publication: 2014 Oct 09 (Print Publication: 2014).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Adipocytes/*metabolism
Alstrom Syndrome/*genetics
DNA-Binding Proteins/*genetics
Hyperinsulinism/*genetics
Adipocytes/drug effects ; Adipocytes/pathology ; Adipogenesis/genetics ; Adipose Tissue/metabolism ; Adipose Tissue/pathology ; Alstrom Syndrome/metabolism ; Alstrom Syndrome/pathology ; Animals ; Biological Transport ; Body Weight ; Cell Cycle Proteins ; Chloride-Bicarbonate Antiporters/genetics ; Chloride-Bicarbonate Antiporters/metabolism ; DNA-Binding Proteins/deficiency ; Disease Models, Animal ; Gene Expression Regulation ; Glucose/metabolism ; Glucose Intolerance ; Humans ; Hyperinsulinism/metabolism ; Hyperinsulinism/pathology ; Insulin/metabolism ; Insulin/pharmacology ; Insulin Resistance ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Phosphorylation ; Primary Cell Culture ; Signal Transduction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 320

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