An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease

por Dias, Renuka P, Maher, Eamonn R
Publicado 2012

Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics

por Cummings, Katherine, Watkins, Alice, Jones, Chris, Dias, Renuka, Welham, Alice
Publicado 2022

Factors affecting the support for physical activity in children and adolescents with type 1 diabetes mellitus: a national survey of health care professionals’ perceptions

por Cockcroft, Emma J., Wooding, Eva L., Narendran, Parth, Dias, Renuka P., Barker, Alan R., Moudiotis, Christopher, Clarke, Ross, Andrews, Robert C.
Publicado 2023

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

por Ibrahim, Abdulla, Kirby, Gail, Hardy, Carol, Dias, Renuka P, Tee, Louise, Lim, Derek, Berg, Jonathan, MacDonald, Fiona, Nightingale, Peter, Maher, Eamonn R
Publicado 2014

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

por Tee, Louise, Lim, Derek HK, Dias, Renuka P, Baudement, Marie-Odile, Slater, Amy A, Kirby, Gail, Hancocks, Tom, Stewart, Helen, Hardy, Carol, Macdonald, Fiona, Maher, Eamonn R
Publicado 2013

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

por Hu, Kun, Zatyka, Malgorzata, Astuti, Dewi, Beer, Nicola, Dias, Renuka P, Kulkarni, Archana, Ainsworth, John, Wright, Benjamin, Majander, Anna, Yu-Wai-Man, Patrick, Williams, Denise, Barrett, Timothy
Publicado 2022

Frequent Monitoring of C-Peptide Levels in Newly Diagnosed Type 1 Subjects Using Dried Blood Spots Collected at Home

por Willemsen, Ruben H, Burling, Keith, Barker, Peter, Ackland, Fran, Dias, Renuka P, Edge, Julie, Smith, Anne, Todd, John, Lopez, Boryana, Mander, Adrian P, Guy, Catherine, Dunger, David B
Publicado 2018

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

por 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
Publicado 2016

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

por 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
Publicado 2018

2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma

por Lebbink, Chantal A, Links, Thera P, Czarniecka, Agnieszka, Dias, Renuka P, Elisei, Rossella, Izatt, Louise, Krude, Heiko, Lorenz, Kerstin, Luster, Markus, Newbold, Kate, Piccardo, Arnoldo, Sobrinho-Simões, Manuel, Takano, Toru, Paul van Trotsenburg, A S, Verburg, Frederik A, van Santen, Hanneke M
Publicado 2022

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

por 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.
Publicado 2017