Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination
López-Espíndola, Daniela, Morales-Bastos, Carmen, Grijota-Martínez, Carmen, Liao, Xiao-Hui, Lev, Dorit, Sugo, Ella, Verge, Charles F, Refetoff, Samuel, Bernal, Juan, Guadaño-Ferraz, Ana
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
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Journal Article
Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency
Verge, Charles F, Konrad, Daniel, Cohen, Michal, Di Cosmo, Caterina, Dumitrescu, Alexandra M, Marcinkowski, Teresa, Hameed, Shihab, Hamilton, Jill, Weiss, Roy E, Refetoff, Samuel
Published in The journal of clinical endocrinology and metabolism (01.12.2012)
Published in The journal of clinical endocrinology and metabolism (01.12.2012)
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Journal Article
Cystic fibrosis-related diabetes and lung disease: an update
Prentice, Bernadette J, Jaffe, Adam, Hameed, Shihab, Verge, Charles F, Waters, Shafagh, Widger, John
Published in European respiratory review (31.03.2021)
Published in European respiratory review (31.03.2021)
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Journal Article
Early Glucose Abnormalities in Cystic Fibrosis Are Preceded by Poor Weight Gain
Hameed, Shihab, Morton, John R, Jaffé, Adam, Field, Penny I, Belessis, Yvonne, Yoong, Terence, Katz, Tamarah, Verge, Charles F
Published in Diabetes care (01.02.2010)
Published in Diabetes care (01.02.2010)
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The Role of Autoimmunity at Diagnosis of Type 1 Diabetes in the Development of Thyroid and Celiac Disease and Microvascular Complications
GLASTRAS, Sarahj, CRAIG, Maria E, VERGE, Charles F, CHAN, Albert K, CUSUMANO, Janine M, DONAGHUE, Kim C
Published in Diabetes care (01.09.2005)
Published in Diabetes care (01.09.2005)
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Journal Article
Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children
Hameed, Shihab, Ellard, Sian, Woodhead, Helen J, Neville, Kristen A, Walker, Jan L, Craig, Maria E, Armstrong, Taylor, Yu, Liping, Eisenbarth, George S, Hattersley, Andrew T, Verge, Charles F
Published in Pediatric diabetes (01.05.2011)
Published in Pediatric diabetes (01.05.2011)
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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
Banerjee, Indraneel, Senniappan, Senthil, Laver, Thomas W, Caswell, Richard, Zenker, Martin, Mohnike, Klaus, Cheetham, Tim, Wakeling, Matthew N, Ismail, Dunia, Lennerz, Belinda, Splitt, Miranda, Berberoğlu, Merih, Empting, Susann, Wabitsch, Martin, Pötzsch, Simone, Shah, Pratik, Siklar, Zeynep, Verge, Charles F, Weedon, Michael N, Ellard, Sian, Hussain, Khalid, Flanagan, Sarah E
Published in Wellcome open research (2019)
Published in Wellcome open research (2019)
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Journal Article
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A, Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M, Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R, Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F, Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F, Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M, Ono, Makato, Lafferty, Antony R, Huynh, Tony, Visser, Uma, Choong, Catherine S, McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M, Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J, Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I, Krausz, Csilla, van Ravenswaaij-Arts, Conny M A, Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, Thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L, Sinclair, Andrew H
Published in Genome Biology (29.11.2016)
Published in Genome Biology (29.11.2016)
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Visual function and retinal thickness in children with type 1 diabetes mellitus
Bodduluri, Lakshmi, Dain, Stephen J, Hameed, Shihab, Verge, Charles F, Boon, Mei Ying
Published in Clinical and experimental optometry (01.09.2024)
Published in Clinical and experimental optometry (01.09.2024)
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Journal Article
Early glucose abnormalities are associated with pulmonary inflammation in young children with cystic fibrosis
Prentice, Bernadette J., Ooi, Chee Y., Strachan, Roxanne E., Hameed, Shihab, Ebrahimkhani, Saeideh, Waters, Shafagh A., Verge, Charles F., Widger, John
Published in Journal of cystic fibrosis (01.11.2019)
Published in Journal of cystic fibrosis (01.11.2019)
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Journal Article
The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome
Frith, Katie, Joly, Anne-Laure, Ma, Cindy S., Tangye, Stuart G., Lohse, Zuzana, Seitz, Christina, Verge, Charles F., Andersson, John, Gray, Paul
Published in Journal of allergy and clinical immunology (01.07.2019)
Published in Journal of allergy and clinical immunology (01.07.2019)
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Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
Robevska, Gorjana, den Bergen, Jocelyn A., Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M., Baxendale, Anne, Verge, Charles F., Lafferty, Antony R., Marzuki, Nanis S., Santosa, Ardy, Listyasari, Nurin A., Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L., Sinclair, Andrew H.
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Advances in the detection and management of cystic fibrosis related diabetes
Hameed, Shihab, Jaffé, Adam, Verge, Charles F
Published in Current opinion in pediatrics (01.08.2015)
Published in Current opinion in pediatrics (01.08.2015)
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Sleep‐disordered breathing in Australian children with Prader‐Willi syndrome following initiation of growth hormone therapy
Caudri, Daan, Nixon, Gillian M, Nielsen, Aleisha, Mai, Linda, Hafekost, Claire R, Kapur, Nitin, Seton, Chris, Tai, Andrew, Blecher, Greg, Ambler, Geoff, Bergman, Philip B, Vora, Komal A, Crock, Patricia, Verge, Charles F, Tham, Elaine, Musthaffa, Yassmin, Lafferty, Antony R, Jacoby, Peter, Wilson, Andrew C, Downs, Jenny, Choong, Catherine S
Published in Journal of paediatrics and child health (01.02.2022)
Published in Journal of paediatrics and child health (01.02.2022)
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Autoantibodies Directed Toward a Novel IA-2 Variant Protein Enhance Prediction of Type 1 Diabetes
Acevedo-Calado, Maria J, Pietropaolo, Susan L, Morran, Michael P, Schnell, Santiago, Vonberg, Andrew D, Verge, Charles F, Gianani, Roberto, Becker, Dorothy J, Huang, Shuai, Greenbaum, Carla J, Yu, Liping, Davidson, Howard W, Michels, Aaron W, Rich, Stephen S, Pietropaolo, Massimo
Published in Diabetes (New York, N.Y.) (01.09.2019)
Published in Diabetes (New York, N.Y.) (01.09.2019)
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SHIFTing goals in cystic fibrosis—managing extrapulmonary disease in the era of CFTR modulator therapy; Proceedings of the International Shaping Initiatives and Future Trends (SHIFT) Symposium
O'Donnell, Jonathan E. M., Hastings, Lucy A., Briody, Julie N., Chan, Christine L., Colombo, Carla, Douglas, Tonia A., Freedman, Steven D., Gonska, Tanja, Greenfield, Jerry R., Leung, Daniel H., Lim, Adeline Y. L., Moran, Antoinette, Prentice, Bernadette J., Putman, Melissa S., Trotter, Michael, Tullis, Elizabeth, Westall, Glen P., Verge, Charles F., Wainwright, Claire E., Ooi, Chee Y., Engelhardt, John F., Katz, Tamarah, King, Susannah, Lewindon, Peter J., Matson, Angela G., McDonald, Catherine M., Moheet, Amir, Narkewicz, Michael R., Oliver, Mark, Ramm, Grant A., Sellers, Zachary M., Wilschanski, Michael
Published in Pediatric pulmonology (01.06.2024)
Published in Pediatric pulmonology (01.06.2024)
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