Clinical utility gene card for: Alström syndrome

מאת Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard B
יצא לאור 2011

Refining genotype–phenotype correlation in Alström syndrome through study of primary human fibroblasts

מאת Chen, Jian‐Hua, Geberhiwot, Tarekegn, Barrett, Timothy G., Paisey, Richard, Semple, Robert K.
הוצא לאור ב Mol Genet Genomic Med (2017)

Empowering youth sport environments: Implications for daily moderate-to-vigorous physical activity and adiposity

מאת Fenton, Sally A.M., Duda, Joan L., Appleton, Paul R., Barrett, Timothy G.
הוצא לאור ב J Sport Health Sci (2017)

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

מאת Haghighi, Amirreza, Haghighi, Alireza, Setoodeh, Aria, Saleh-Gohari, Nasrollah, Astuti, Dewi, Barrett, Timothy G
יצא לאור 2013

Clinical utility gene card for: Alström Syndrome - update 2013

מאת Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard, Naggert, Jürgen K
יצא לאור 2013

Microstructural abnormalities in white and gray matter in obese adolescents with and without type 2 diabetes

מאת Nouwen, Arie, Chambers, Alison, Chechlacz, Magdalena, Higgs, Suzanne, Blissett, Jacqueline, Barrett, Timothy G., Allen, Harriet A.
הוצא לאור ב Neuroimage Clin (2017)

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model

מאת Chen, Jian-Hua, Goh, Kim Jee, Rocha, Nuno, Groeneveld, Matthijs P., Minic, Marina, Barrett, Timothy G., Savage, David, Semple, Robert K.
הוצא לאור ב Dis Model Mech (2017)

Sodium-potassium ATPase beta 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum (ER) protein involved in ER stress

מאת Zatyka, Malgorzata, Ricketts, Christopher, da Silva Xavier, Gabriela, Minton, Jayne A., Fenton, Sarah, Hofmann-Thiel, Sabine, Rutter, Guy A., Barrett, Timothy G.
הוצא לאור ב Hum Mol Genet (2007)

Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression

מאת Zatyka, Malgorzata, Da Silva Xavier, Gabriela, Bellomo, Elisa A., Leadbeater, Wendy, Astuti, Dewi, Smith, Joel, Michelangeli, Frank, Rutter, Guy A., Barrett, Timothy G.
הוצא לאור ב Hum Mol Genet (2015)

Maternal but Not Paternal Association of Ambulatory Blood Pressure With Albumin Excretion in Young Offspring With Type 1 Diabetes

מאת Marcovecchio, M. Loredana, Tossavainen, Paivi H., Acerini, Carlo L., Barrett, Timothy G., Edge, Julie, Neil, Andrew, Shield, Julian, Widmer, Barry, Dalton, R. Neil, Dunger, David B.
יצא לאור 2010

Prevalence of Abnormal Lipid Profiles and the Relationship With the Development of Microalbuminuria in Adolescents With Type 1 Diabetes

מאת Marcovecchio, M. Loredana, Dalton, R. Neil, Prevost, A. Toby, Acerini, Carlo L., Barrett, Timothy G., Cooper, Jason D., Edge, Julie, Neil, Andrew, Shield, Julian, Widmer, Barry, Todd, John A., Dunger, David B.
יצא לאור 2009

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

מאת Farmer, Amy, Aymé, Ségolène, de Heredia, Miguel Lopez, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes, Virginia, Parkinson, Kay, Paquis-Flucklinger, Véronique, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjærg, Lisbeth, Barrett, Timothy G
יצא לאור 2013

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

מאת Idkowiak, Jan, Taylor, Angela E., Subtil, Sandra, O'Neil, Donna M., Vijzelaar, Raymon, Dias, Renuka P., Amin, Rakesh, Barrett, Timothy G., Shackleton, Cedric H. L., Kirk, Jeremy M. W., Moss, Celia, Arlt, Wiebke
הוצא לאור ב J Clin Endocrinol Metab (2016)

Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children

מאת Idkowiak, Jan, Elhassan, Yasir S, Mannion, Pascoe, Smith, Karen, Webster, Rachel, Saraff, Vrinda, Barrett, Timothy G, Shaw, Nicholas J, Krone, Nils, Dias, Renuka P, Kershaw, Melanie, Kirk, Jeremy M, Högler, Wolfgang, Krone, Ruth E, O’Reilly, Michael W, Arlt, Wiebke
הוצא לאור ב Eur J Endocrinol (2018)

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

מאת Astuti, Dewi, Sabir, Ataf, Fulton, Piers, Zatyka, Malgorzata, Williams, Denise, Hardy, Carol, Milan, Gabriella, Favaretto, Francesca, Yu‐Wai‐Man, Patrick, Rohayem, Julia, López de Heredia, Miguel, Hershey, Tamara, Tranebjaerg, Lisbeth, Chen, Jian‐Hua, Chaussenot, Annabel, Nunes, Virginia, Marshall, Bess, McAfferty, Susan, Tillmann, Vallo, Maffei, Pietro, Paquis‐Flucklinger, Veronique, Geberhiwot, Tarekign, Mlynarski, Wojciech, Parkinson, Kay, Picard, Virginie, Bueno, Gema Esteban, Dias, Renuka, Arnold, Amy, Richens, Caitlin, Paisey, Richard, Urano, Fumihiko, Semple, Robert, Sinnott, Richard, Barrett, Timothy G.
הוצא לאור ב Hum Mutat (2017)