Search Results - "Marshall, Jan D"

Alstrom Syndrome: Genetics and Clinical Overview by Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K

“…Alstrom syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin…”
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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance by Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B, Marshall, Jan D, Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K

“…Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders…”
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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway by Collin, Gayle B, Marshall, Jan D, King, Benjamin L, Milan, Gabriella, Maffei, Pietro, Jagger, Daniel J, Naggert, Jürgen K

“…Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin…”
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Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients by Brofferio, Alessandra, Sachdev, Vandana, Hannoush, Hwaida, Marshall, Jan D., Naggert, Jürgen K., Sidenko, Stanislav, Noreuil, Anna, Sirajuddin, Arlene, Bryant, Joy, Han, Joan C., Arai, Andrew E., Gahl, William A., Gunay-Aygun, Meral

“…Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Complex metabolic disturbances are common and cardiomyopathy is a…”
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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis by Zulato, Elisabetta, Favaretto, Francesca, Veronese, Caterina, Campanaro, Stefano, Marshall, Jan D, Romano, Sara, Cabrelle, Anna, Collin, Gayle B, Zavan, Barbara, Belloni, Anna S, Rampazzo, Enrica, Naggert, Jürgen K, Abatangelo, Giovanni, Sicolo, Nicola, Maffei, Pietro, Milan, Gabriella, Vettor, Roberto

“…Alström Syndrome (ALMS) is a rare genetic disorder (483 living cases), characterized by many clinical manifestations, including blindness, obesity, type 2…”
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Histopathology of the human inner ear in Alström's syndrome by Nadol, Jr, Joseph B, Marshall, Jan D, Bronson, Roderick T

“…Alström's syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene. Sensorineural hearing loss occurs in greater…”
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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome by PEREIRO, Ines, HOSKINS, Bethan E, MARSHALL, Jan D, COLLIN, Gayle B, NAGGERT, Jürgen K, PINEIRO-GALLEGO, Teresa, OITMAA, Eneli, KATSANIS, Nicholas, VALVERDE, Diana, BEALES, Philip L

“…Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alström syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly…”
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Brain involvement in Alström syndrome by Citton, Valentina, Favaro, Angela, Bettini, Vera, Gabrieli, Joseph, Milan, Gabriella, Greggio, Nella Augusta, Marshall, Jan D, Naggert, Jürgen K, Manara, Renzo, Maffei, Pietro

“…Alström Syndrome (AS) is a rare ciliopathy characterized by cone-rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and…”
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Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability by Frölander, Hans-Erik, Möller, Claes, Rudner, Mary, Mishra, Sushmit, Marshall, Jan D, Piacentini, Heather, Lyxell, Björn

“…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…”
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The progression from obesity to type 2 diabetes in Alström syndrome by Bettini, Vera, Maffei, Pietro, Pagano, Claudio, Romano, Sara, Milan, Gabriella, Favaretto, Francesca, Marshall, Jan D., Paisey, Richard, Scolari, Francesco, Greggio, Nella A., Tosetto, Ilaria, Naggert, Jürgen K., Sicolo, Nicola, Vettor, Roberto

“…Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R, Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R. The…”
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Alström Syndrome: Mutation Spectrum of ALMS1 by Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.

“…ABSTRACT Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement…”
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Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes by Paisey, Richard B, Paisey, Rosamund M, Thomson, Mary P, Bower, Lynne, Maffei, Pietro, Shield, Julian P.H, Barnett, Sue, Marshall, Jan D

“…OBJECTIVE:--Alström syndrome, with type 2 diabetes, and blindness could confer a high risk of foot ulceration. Clinical testing for neuropathy in Alström…”
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Alström Syndrome by MARSHALL, Jan D, BECK, Sebastian, MAFFEI, Pietro, NAGGERT, Jürgen K

“…Alström Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function…”
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Cardiac Manifestations of Alström Syndrome: Echocardiographic Findings by Makaryus, Amgad N., MD, Zubrow, Michael E., BA, Marshall, Jan D., MS, Gillam, Linda D., MD, FASE, Mangion, Judy R., MD, FASE, FACC, FAHA

“…Background Alström syndrome is an extremely rare autosomal recessive genetic disorder characterized by infantile-onset cardiomyopathy (CMP), blindness, hearing…”
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Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls by Han, Joan C, Reyes-Capo, Daniela P, Liu, Chia-Ying, Reynolds, James C, Turkbey, Evrim, Turkbey, Ismail Baris, Bryant, Joy, Marshall, Jan D, Naggert, Jürgen K, Gahl, William A, Yanovski, Jack A, Gunay-Aygun, Meral

“…Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1. AS is…”
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Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center by Waldman, Meryl, Han, Joan C., Reyes-Capo, Daniela P., Bryant, Joy, Carson, Kathryn A., Turkbey, Baris, Choyke, Peter, Naggert, Jürgen K., Gahl, William A., Marshall, Jan D., Gunay-Aygun, Meral

“…Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss,…”
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Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report by Mihai, Cristina M, Marshall, Jan D, Stoicescu, Ramona M

“…Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality…”
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Respiratory manifestations in 38 patients with Alström syndrome by Boerwinkle, Caroline, Marshall, Jan D., Bryant, Joy, Gahl, William A., Olivier, Kenneth N., Gunay‐Aygun, Meral

“…Summary Objectives: Alström syndrome (AS) is a rare, multi‐system condition characterized by retinal degeneration, sensorineural hearing loss, obesity,…”
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Clinical utility gene card for: Alström Syndrome - update 2013 by Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard, Naggert, Jürgen K

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Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome by Paisey, Richard B, Smith, Jamie, Carey, Catherine, Barrett, Timothy, Campbell, Fiona, Maffei, Pietro, Marshall, Jan D, Paisey, Christopher, Steeds, Richard P, Edwards, Nicola C, Bunce, Susan, Geberhiwot, Tarekegn

“…Context: Alström syndrome is characterized by increased risk of cardiovascular disease from childhood. Objective: To explore the association between risk…”
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