Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Jan D Marshall"'
Autor:
Hans-Erik Ivert Frölander, Claes eMöller, Mary eRudner, Sushmit eMishra, Jan D Marshall, Heather Marie Piacentini, Björn eLyxell
Publikováno v:
Frontiers in Psychology, Vol 6 (2015)
Objective: This study focuses on cognitive prerequisites for the development of Theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS). AS is a recessively inherited ciliopathic disord
Externí odkaz:
https://doaj.org/article/2603622b170e42c696e854cc3e4d325a
Autor:
Francesca Favaretto, Gabriella Milan, Gayle B Collin, Jan D Marshall, Fabio Stasi, Pietro Maffei, Roberto Vettor, Jürgen K Naggert
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e109540 (2014)
Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders. Alström Syndrome, a recessive ciliopathy, caused by mutations in ALMS1, is characterized by
Externí odkaz:
https://doaj.org/article/799ff5044e734e85b48807b54c907445
Autor:
Gayle B Collin, Jan D Marshall, Benjamin L King, Gabriella Milan, Pietro Maffei, Daniel J Jagger, Jürgen K Naggert
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e37925 (2012)
Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström sy
Externí odkaz:
https://doaj.org/article/d644ace79fb945ea8c3f464729273908
Autor:
Elisabetta Zulato, Francesca Favaretto, Caterina Veronese, Stefano Campanaro, Jan D Marshall, Sara Romano, Anna Cabrelle, Gayle B Collin, Barbara Zavan, Anna S Belloni, Enrica Rampazzo, Jürgen K Naggert, Giovanni Abatangelo, Nicola Sicolo, Pietro Maffei, Gabriella Milan, Roberto Vettor
Publikováno v:
PLoS ONE, Vol 6, Iss 4, p e19081 (2011)
Alström Syndrome (ALMS) is a rare genetic disorder (483 living cases), characterized by many clinical manifestations, including blindness, obesity, type 2 diabetes and cardiomyopathy. ALMS is caused by mutations in the ALMS1 gene, encoding for a lar
Externí odkaz:
https://doaj.org/article/2274e355fc9f41a88d2f5d86a1327916
Autor:
Baris Turkbey, William A. Gahl, Joy Bryant, Juergen K Naggert, Daniela P Reyes-Capo, Peter L. Choyke, Meral Gunay-Aygun, Joan C. Han, Kathryn A. Carson, Meryl Waldman, Jan D. Marshall
Publikováno v:
Mol Genet Metab
Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss, progressive liver and kidney disease, and normal cognitive function. ALMS1, the protein defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab9c6c6411293bd8602c793c1f6ed64
https://doi.org/10.1016/j.ymgme.2018.07.010
https://doi.org/10.1016/j.ymgme.2018.07.010
Autor:
Gayle B. Collin, Gad Dotan, Vikas Khetan, Jan D. Marshall, Elizabeth Affel, Jürgen K. Naggert, Alex V. Levin, Denise Armiger-George
Publikováno v:
Ophthalmic Genetics. 38:440-445
Alström syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. The aim of this study was to characterize morphological retinal changes in Alström patients using spectral-domain optical coherence tomography.We studied volun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2e47ccac427317e0f01144a4475280
https://doi.org/10.1080/13816810.2016.1257029
https://doi.org/10.1080/13816810.2016.1257029
Autor:
Jan D. Marshall, Kenneth N. Olivier, Caroline Boerwinkle, Joy Bryant, Meral Gunay-Aygun, William A. Gahl
Publikováno v:
Pediatric Pulmonology. 52:487-493
Summary Objectives: Alstrom syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91910ac50a22a9f54ea9410b63ca8a73
https://doi.org/10.1002/ppul.23607
https://doi.org/10.1002/ppul.23607
Autor:
Juergen K Naggert, Chia-Ying Liu, Jack A. Yanovski, Joy Bryant, Ismail B. Turkbey, James C. Reynolds, William A. Gahl, Daniela P Reyes-Capo, Jan D. Marshall, Meral Gunay-Aygun, Evrim B. Turkbey, Joan C. Han
Publikováno v:
The Journal of clinical endocrinology and metabolism. 103(7)
BACKGROUND: Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body–associated gene ALMS1. AS is characterized by retinal dystrophy, sensory hearing loss, cardiomyopathy, childhood obe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db4b71a871ffaef24d1e1e053636b1a
https://pubmed.ncbi.nlm.nih.gov/29718281
https://pubmed.ncbi.nlm.nih.gov/29718281
Autor:
Guzide Aksu, Aysegul Ozanturk, Neslihan Edeer Karaca, Taha Reşid Özdemir, Hamiyet Hekimci Özdemir, Jan D. Marshall, Ozgur Cogulu, Necil Kutukculer, Rıza Köksal Özgül, Ferda Ozkinay, Bilçağ Akgün, Esra Isik, Şükran Darcan
PubMed ID: 30155784
[No abstract available]
[No abstract available]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a283b8e0c74a240708fdb2295704d4f
https://hdl.handle.net/11454/29933
https://hdl.handle.net/11454/29933
Autor:
Nicola C. Edwards, S. Bunce, Fiona Campbell, Richard P. Steeds, Christopher Paisey, Tarekegn Geberhiwot, Catherine Carey, Timothy Barrett, Pietro Maffei, Jan D. Marshall, Jamie Smith, Richard B Paisey
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context: Alström syndrome is characterized by increased risk of cardiovascular disease from childhood. Objective: To explore the association between risk factors for cardiovascular disease, aortic pulse wave velocity, and vascular events in Alström
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eadc9faf68ad1f7ea6aa5790d879aa8
http://europepmc.org/articles/PMC4525001
http://europepmc.org/articles/PMC4525001