Improvement in glycaemic parameters using SGLT-2 inhibitor and GLP-1 agonist in combination in an adolescent with diabetes mellitus and Prader-Willi syndrome: a case report
Candler, Toby, McGregor, David, Narayan, Kruthika, Moudiotis, Chris, Burren, Christine P.
Published in Journal of Pediatric Endocrinology & Metabolism (28.07.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (28.07.2020)
Get full text
Journal Article
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins
Xue, Jing-Yi, Wang, Zheng, Smithson, Sarah F, Burren, Christine P, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro, Guo, Long
Published in Journal of human genetics (01.04.2021)
Published in Journal of human genetics (01.04.2021)
Get full text
Journal Article
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants
Di Zanni, Eleonora, Palagano, Eleonora, Lagostena, Laura, Strina, Dario, Rehman, Asma, Abinun, Mario, De Somer, Lien, Martire, Baldassarre, Brown, Justin, Kariminejad, Ariana, Balasubramaniam, Shanti, Baynam, Gareth, Gurrieri, Fiorella, Pisanti, Maria A, De Maggio, Ilaria, Abboud, Miguel R, Chiesa, Robert, Burren, Christine P, Villa, Anna, Sobacchi, Cristina, Picollo, Alessandra
Published in Journal of bone and mineral research (01.03.2021)
Published in Journal of bone and mineral research (01.03.2021)
Get full text
Journal Article
Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant
Fecher-Trost, Claudia, Wolske, Karin, Wesely, Christine, Löhr, Heidi, Klawitter, Daniel S, Weissgerber, Petra, Gradhand, Elise, Burren, Christine P, Mason, Anna E, Winter, Manuel, Wissenbach, Ulrich
Published in International journal of molecular sciences (24.11.2021)
Published in International journal of molecular sciences (24.11.2021)
Get full text
Journal Article
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report
Mason, Anna E, Grier, David, Smithson, Sarah F, Burren, Christine P, Gradhand, Elise
Published in BMC medical genetics (30.03.2020)
Published in BMC medical genetics (30.03.2020)
Get full text
Journal Article
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
Get full text
Journal Article
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Published in Genome medicine (26.07.2022)
Published in Genome medicine (26.07.2022)
Get full text
Journal Article
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial
Bishop, Nick, Prof, Adami, Silvano, MD, Ahmed, S Faisal, MD, Antón, Jordi, MD, Arundel, Paul, MD, Burren, Christine P, MD, Devogelaer, Jean-Pierre, MD, Hangartner, Thomas, PhD, Hosszú, Eva, MD, Lane, Joseph M, MD, Lorenc, Roman, MD, Mäkitie, Outi, MD, Munns, Craig F, MD, Paredes, Ana, MD, Pavlov, Helene, MD, Plotkin, Horacio, MD, Raggio, Cathleen L, MD, Reyes, Maria Loreto, MD, Schoenau, Eckhard, MD, Semler, Oliver, MD, Sillence, David O, MD, Steiner, Robert D, MD
Published in The Lancet (British edition) (26.10.2013)
Published in The Lancet (British edition) (26.10.2013)
Get full text
Journal Article
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B., Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Published in Therapeutic advances in musculoskeletal disease (01.03.2022)
Published in Therapeutic advances in musculoskeletal disease (01.03.2022)
Get full text
Journal Article
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C, Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N, Gabrovska, Plamena, Larkin, Sarah J, Ansorge, Olaf, Rodd, Celia, Vance, Mary L, Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P, Buchfelder, Michael, Burren, Christine P, Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S, Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A, Lopes, Maria-Beatriz, Grossman, Ashley B, Trouillas, Jacqueline, Lupski, James R, Ellard, Sian, Sampson, Julian R, Roncaroli, Federico, Korbonits, Márta
Published in Acta neuropathologica communications (01.06.2016)
Published in Acta neuropathologica communications (01.06.2016)
Get full text
Journal Article
Growth reference charts for children with hypochondroplasia
Cheung, Moira S., Cole, Tim J., Arundel, Paul, Bridges, Nicola, Burren, Christine P., Cole, Trevor, Davies, Justin Huw, Hagenäs, Lars, Högler, Wolfgang, Hulse, Anthony, Mason, Avril, McDonnell, Ciara, Merker, Andrea, Mohnike, Klaus, Sabir, Ataf, Skae, Mars, Rothenbuhler, Anya, Warner, Justin, Irving, Melita
Published in American journal of medical genetics. Part A (01.02.2024)
Published in American journal of medical genetics. Part A (01.02.2024)
Get full text
Journal Article
AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination
Edgerley, Katharine, Barnicoat, Angela, Offiah, Amaka C., Calder, Alistair D., Mankad, Kshitij, Thomas, Nicholas Simon, Bunyan, David J., Williams, Maggie, Buxton, Chris, Majumdar, Arniban, Vijayakumar, Kayal, Hilliard, Tom, Turner, James, Burren, Christine P., Monsell, Fergal, Smithson, Sarah F.
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
Get full text
Journal Article
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome
Ashraf, Tazeen, Vaina, Camelia, Giri, Dinesh, Burren, Christine P., James, Margaret, Offiah, Amaka C., Overton, Timothy, Baptista, Julia, Ellard, Sian, Smithson, Sarah F.
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
Get full text
Journal Article
Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis
Taylor-Miller, Tashunka, Sivaprakasam, Ponni, Smithson, Sarah F., Steward, Colin G., Burren, Christine P.
Published in Bone Reports (01.06.2021)
Published in Bone Reports (01.06.2021)
Get full text
Journal Article
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
Get full text
Journal Article