المؤلفون: Savarirayan, R, De Bergua, JM, Arundel, P, McDevitt, H, Cormier-Daire, V, Saraff, V, Skae, M, Delgado, B, Leiva-Gea, A, Santos-Simarro, F, Salles, JP, Nicolino, M, Rossi, M, Kannu, P, Bober, MB, Phillips, J, Saal, H, Harmatz, P, Burren, C, Gotway, G, Cho, T, Muslimova, E, Weng, R, Rogoff, D, Hoover-Fong, J, Irving, M

Relation: pii: 10.1177_1759720X221084848; Savarirayan, R., De Bergua, J. M., Arundel, P., McDevitt, H., Cormier-Daire, V., Saraff, V., Skae, M., Delgado, B., Leiva-Gea, A., Santos-Simarro, F., Salles, J. P., Nicolino, M., Rossi, M., Kannu, P., Bober, M. B., Phillips, J., Saal, H., Harmatz, P., Burren, C. ,. Irving, M. (2022). Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. THERAPEUTIC ADVANCES IN MUSCULOSKELETAL DISEASE, 14, https://doi.org/10.1177/1759720X221084848.; http://hdl.handle.net/11343/307122

الاتاحة: http://hdl.handle.net/11343/307122

المؤلفون: Marques, P, Caimari, F, Hernández-Ramírez, LC, Collier, D, Iacovazzo, D, Ronaldson, A, Magid, K, Lim, CT, Stals, K, Ellard, S, Grossman, AB, Korbonits, M, Abraham, P, Aflorei, E, Agha, A, Ahlquist, J, Akker, SA, Alexandraki, K, Alföldi, S, Anselmo, J, Arlt, W, Atkinson, B, Aulinas-Masó, A, Aylwin, SJ, Baborie, A, Backeljauw, PF, Badiu, C, Baldeweg, S, Ball, S, Bano, G, Barkan, A, Barton, J, Barwell, J, Bates, P, Bernal-González, C, Besser, M, Bevan, JS, Bickerton, A, Blair, J, Bolanowski, M, Bouloux, P, Bradley, L, Bradley, K, Brain, C, Brooke, A, Brown, R, Buchfelder, M, Burren, C, Cakir, M, Canham, N, Capraro, J, Carroll, P, Carter, P, Carty, D, Cavlan, D, Chahal, HS, Cheetham, T, Chentli, F, Choong, C, Christ-Crain, M, Chung, T-T, Clayton, P, Clayton, RN, Cohen, M, Courtney, H, Cove, D, Crowne, E, Cuthbertson, D, Dal, J, Dalantaeva, N, Damjanovic, S, Daousi, C, Darzy, K, Dattani, M, Davies, M, Davies, J, Davis, J, de Castro, M, de Marinis, L, Deal, C, Dénes, J, Dimitri, P, Dorward, N, Dow, G, Drake, W, Druce, M, Drummond, J, Dutta, P, Dzeranova, L, Edén-Engström, B, Eeles, R, Elfving, M, Ellis, K, Elston, M, Emmerson, L, Ezzat, S, Fersht, N, Fica, S, Fischli, S, Fleseriu, M, Forsythe, E, Foulkes, W, Freda, P, Friedman, T, Gadelha, M, Gainsborough, M, Gallacher, S, Gallego, P, Gan, H-W, Georgescu, C, Gevers, E, Gilkes, C, Glynn, N, Goldman, JE, Goldstone, AP, Góth, M, Green, A, Greenhalgh, L, Grieve, J, Griz, L, Guitelman, M, Gürlek, A, Gurnell, M, Hamblin, PS, Hana, V, Harding, P, Hay, E, Hilton, DA, Ho, W, Hong, G, Horváth, K, Howell, S, Howlett, TA, Höybye, C, Hunter, S, Idampitiya, C, Igaz, P, Imran, A, Inder, WJ, Iwata, T, Izatt, L, Jagadeesh, S, Johnston, C, Jose, B, Kaltsas, G, Kaplan, F, Karavitaki, N, Kastelan, D, Katz, M, Kearney, T, Kershaw, M, Khoo, B, Kiraly-Borri, C, Knispelis, R, Kovács, GL, Kumar, A, Kumar, AV, Kun, IZ, Kyriaku, A, Lambrescu, I, Lampe, AK, Laws, ER, Lebek-Szatanska, A, Lechan, RM, Leese, G, Levy, A, Levy, MJ, Lewandowski, K, Lin, E, Lo, J, Lyons, C, Maartens, N, Maghnie, M, Makaya, T, Marcus, H, Niedziela, M, Martin, N, Matsuno, A, McGowan, B, McQuaid, SE, Medic-Stojanoska, M, Mendoza, N, Mercado-Atri, M, Mettananda, S, Mezősi, E, Miljic, D, Miller, KK, Modenesi, S, Molitch, ME, Monson, J, Morris, DG, Morrison, PJ, Mosterman, B, Munir, A, Murray, RD, Musat, M, Musolino, N, Nachtigall, L, Nagi, D, Nair, R, Nelson, R, Newell-Price, J, Nikookam, K, Ogilivie, A, Orme, SM, O´Weickert, M, Pal, A, Pascanu, I, Patócs, A, Patterson, C, Pearce, SH, Giraldi, FP, Penney, L, Perez-Rivas, LG, Pfeifer, M, Pirie, F, Poplawski, N, Popovic, V, Powell, M, Pullan, P, Quinton, R, Radian, S, Randeva, H, Reddy, N, Rees, A, Renals, V, de Oliveira, AR, Richardson, T, Rodd, C, Ross, RJM, Roncaroli, F, Ryan, F, Salvatori, R, Schöfl, C, Shears, D, Shotliff, K, Skelly, R, Snape, K, Soares, BS, Somasundaram, N, Spada, A, Sperber, J, Spoudeas, H, Stelmachowska-Banas, M, Stewart, S, Storr, HL, Strasburger, C, Street, ME, Suter-Widmer, I, Suthers, G, Swords, F, Syro, LV, Swantje, B, Sze, C, Taylor, J, Thakker, RV, Tham, E, Thompson, C, Thorner, MO, Tóth, M, Trainer, PJ, Tsagarakis, S, Twine, G, Tzanela, M, Vadasz, J, Vaidya, B, Vaks, V, Vance, ML, Verkauskiene, R, Von Esch, H, Wass, JA, Waterhouse, M, Webb, S, Weber, A, Wernig, F, Widell, H, Yamada, S, Yap, P, Yarman, S, Yeoh, P, Yoshimoto, K, Yuen, K, Zammitt, NN

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/161800/1/AIP%20mutations%20JCEM.pdf; Marques, P, Caimari, F, Hernández-Ramírez, LC et al. (280 more authors) (2020) Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors. The Journal of Clinical Endocrinology & Metabolism, 105 (6). ISSN 0021-972X

الاتاحة: https://eprints.whiterose.ac.uk/161800/
https://eprints.whiterose.ac.uk/161800/1/AIP%20mutations%20JCEM.pdf

المؤلفون: Clark, R., Burren, C. P., John, R.

المصدر: Clark , R , Burren , C P & John , R 2019 , ' Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta ' , European Archive of Paediatric Dentistry , vol. 20 , pp. 473-480 . https://doi.org/10.1007/s40368-019-00424-w

مصطلحات موضوعية: Bisphosphonate therapy, Dental caries, Dentinogenesis imperfecta, Osteogenesis imperfecta, Tertiary dental assessment

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/1983/652325d9-15b5-4051-ad18-52a9c25148d6
https://research-information.bris.ac.uk/en/publications/652325d9-15b5-4051-ad18-52a9c25148d6
https://doi.org/10.1007/s40368-019-00424-w
https://research-information.bris.ac.uk/ws/files/188473194/Full_text_PDF_final_published_version_.pdf
http://www.scopus.com/inward/record.url?scp=85073920208&partnerID=8YFLogxK

المؤلفون: Arundel, Paul, Ahmed, S F, Allgrove, J, Bishop, N J, Burren, C P, Jacobs, B, Mughal, M Z, Offiah, A C, Shaw, N J

المصدر: BMJ: British Medical Journal, 2012 Dec 01. 345(7886), 28-28.

URL الوصول: https://www.jstor.org/stable/41724493

المؤلفون: Thornley, P., Bishop, N., Baker, D., Brock, J., Arundel, P., Burren, C., Smithson, S., DeVile, C., Crowe, B., Allgrove, J., Saraff, V., Shaw, N., Balasubramanian, M.

Relation: Thornley, P., Bishop, N. orcid.org/0000-0001-7263-8546 , Baker, D. et al. (10 more authors) (2022) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood, 107 (5). pp. 486-490. ISSN 0003-9888

الاتاحة: https://eprints.whiterose.ac.uk/182718/

المؤلفون: Nicholls, R, Kumar, Y, Crowne, E, Burren, C

المصدر: Archives of Disease in Childhood ; volume 99, issue Suppl 2, page A278.1-A278 ; ISSN 0003-9888 1468-2044

الاتاحة: http://dx.doi.org/10.1136/archdischild-2014-307384.757
https://syndication.highwire.org/content/doi/10.1136/archdischild-2014-307384.757

المؤلفون: Arundel, Paul, Ahmed, S F, Allgrove, J, Bishop, N J, Burren, C P, Jacobs, B, Mughal, M Z, Offiah, A C, Shaw, N J

مصطلحات موضوعية: LETTERS

وصف الملف: text/html

Relation: http://www.bmj.com/cgi/content/short/345/dec03_2/e8182; http://dx.doi.org/10.1136/bmj.e8182

الاتاحة: http://www.bmj.com/cgi/content/short/345/dec03_2/e8182
https://doi.org/10.1136/bmj.e8182

المؤلفون: Hannan, F. M., Nesbit, M. A., Zhang, C., Cranston, T., Curley, A. J., Harding, B., Fratter, C., Rust, N., Christie, P. T., Turner, J. J. O., Lemos, M. C., Bowl, M. R., Bouillon, R., Brain, C., Bridges, N., Burren, C., Connell, J. M., Jung, H., Marks, E., McCredie, D., Mughal, Z., Rodda, C., Tollefsen, S., Brown, E. M., Yang, J. J., Thakker, R. V.

المصدر: Human Molecular Genetics ; volume 21, issue 12, page 2768-2778 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/dds105

المؤلفون: Modgil, G, Williams, B, Oakley, G, Burren, C P

مصطلحات موضوعية: Postscript

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/95/7/568-b; http://dx.doi.org/10.1136/adc.2010.187435

الاتاحة: http://adc.bmj.com/cgi/content/short/95/7/568-b
https://doi.org/10.1136/adc.2010.187435

المؤلفون: Purayil, T, Kumar, Y, Burren, C

مصطلحات موضوعية: British Society for Paediatric Endocrinology and Diabetes/British Paediatric and Adolescent Bone Group

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/95/1_MeetingAbstracts/A93; http://dx.doi.org/10.1136/adc.2010.186338.202

الاتاحة: http://adc.bmj.com/cgi/content/short/95/1_MeetingAbstracts/A93
https://doi.org/10.1136/adc.2010.186338.202

المؤلفون: Buckway, C. K., Guevara-Aguirre, J., Pratt, K. L., Burren, C. P., Rosenfeld, R. G.

المصدر: Buckway , C K , Guevara-Aguirre , J , Pratt , K L , Burren , C P & Rosenfeld , R G 2001 , ' The IGF-I generation test revisited : A marker of GH sensitivity ' , Journal of Clinical Endocrinology and Metabolism , vol. 86 , no. 11 , pp. 5176-5183 . https://doi.org/10.1210/jcem.86.11.8019

الاتاحة: https://hdl.handle.net/1983/dca2799d-f4dc-4d41-8ae3-485995d4b4d2
https://research-information.bris.ac.uk/en/publications/dca2799d-f4dc-4d41-8ae3-485995d4b4d2
https://doi.org/10.1210/jcem.86.11.8019
http://www.scopus.com/inward/record.url?scp=0035176304&partnerID=8YFLogxK

المؤلفون: Bownass, L., Abbs, S., Armstrong, R., Baujat, G., Behzadi, G., Berentsen, R.D., Burren, C., Calder, A., Cormier‐Daire, V., Newbury‐Ecob, R., Foulds, N., Juliusson, P.B., Kant, S.G., Lefroy, H., Mehta, S.G., Merckoll, E., Michot, C., Monsell, F., Offiah, A.C., Richards, A., Rosendahl, K., Rustad, C.F., Shears, D., Tveten, K., Wellesley, D., Wordsworth, P., Smithson, S.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/149945/3/Main_Text_Revised.pdf; Bownass, L., Abbs, S., Armstrong, R. et al. (24 more authors) (2019) PAPSS2‐related brachyolmia : clinical and radiological phenotype in 18 new cases. American Journal of Medical Genetics Part A, 179 (9). pp. 1884-1894. ISSN 1552-4825

الاتاحة: https://eprints.whiterose.ac.uk/149945/
https://eprints.whiterose.ac.uk/149945/3/Main_Text_Revised.pdf

المؤلفون: Iacovazzo D., Jose S., Bunce B., Caswell R., Hernández-Ramírez L. C., Caimari F., Ferraù F., Kapur S., Gabrovska P., Dang M., Vance M. L., Ramírez C., Mercado Atri M., Goldstone A. P., Buchfelder M., Rodd C., Burren C., Dutta P., Choong C., Cheetham T., Roncaroli F., Ellard S., Sampson J., Korbonits M.

المساهمون: Iacovazzo, D., Jose, S., Bunce, B., Caswell, R., Hernández-Ramírez, L. C., Caimari, F., Ferraù, F., Kapur, S., Gabrovska, P., Dang, M., Vance, M. L., Ramírez, C., Mercado Atri, M., Goldstone, A. P., Buchfelder, M., Rodd, C., Burren, C., Dutta, P., Choong, C., Cheetham, T., Roncaroli, F., Ellard, S., Sampson, J., Korbonits, M.

Relation: ispartofbook:ENEA WORKSHOP, Marsiglia (Francia), 10-12 dicembre 2015; European Neuroendocrine Association WORKSHOP; firstpage:1; lastpage:1; numberofpages:1; http://hdl.handle.net/11570/3119405

الاتاحة: http://hdl.handle.net/11570/3119405

المؤلفون: Burren, C. P., Caswell, R., Castle, B., Welch, C. R., Hilliard, T. N., Smithson, S. F., Ellard, Sian

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: https://doi.org/10.1002/ajmg.a.40484; TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. 2018, 176 (9):1950-1955 Am. J. Med. Genet. A; http://hdl.handle.net/11287/620831; American journal of medical genetics. Part A

الاتاحة: http://hdl.handle.net/11287/620831
https://doi.org/10.1002/ajmg.a.40484

المؤلفون: Prasad, R., Brewer, Carole, Burren, C. P.

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: http://dx.doi.org/10.1002/ajmg.a.37731; Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. 2016 Aug;170(8):2222-5: Am. J. Med. Genet. A; http://hdl.handle.net/11287/610463; American journal of medical genetics. Part A

الاتاحة: http://hdl.handle.net/11287/610463
https://doi.org/10.1002/ajmg.a.37731

المؤلفون: Boyce, A.M., Turner, A., Watts, L., Forestier-Zhang, L., Underhill, A., Pinedo-Villanueva, R., Monsell, F., Tessaris, D., Burren, C., Masi, L., Hamdy, N., Brandi, M.L., Chapurlat, R., Collins, M.T., Javaid, M.K.

المصدر: Archives of Osteoporosis

مصطلحات موضوعية: Fibrous dysplasia, McCune-Albright syndrome, Patient-centered care, Epidemiology

وصف الملف: application/pdf

Relation: lumc-id: 43070557; https://hdl.handle.net/1887/94857

الاتاحة: https://hdl.handle.net/1887/94857
https://doi.org/10.1007/s11657-016-0271-6

المؤلفون: Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernández-Ramírez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferraù, F., Dang, M. N., Gabrovska, P., Larkin, S. J., Ansorge, O., Rodd, C., Vance, M. L., Ramírez-Renteria, C., Mercado, M., Goldstone, A. P., Buchfelder, M., Burren, C. P., Gurlek, A., Dutta, P., Choong, C. S., Cheetham, T., Trivellin, G., Stratakis, C. A., Lopes, M-B, Grossman, A. B., Trouillas, J., Lupski, J. R., Ellard, Sian, Sampson, J. R., Roncaroli, F., Korbonits, M.

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Acromegaly, Adenoma, Adolescent, Child, Preschool, Female, Gene Duplication, Germ-Line Mutation, Gigantism, Humans, Infant, Intracellular Signaling Peptides and Proteins, Male, Pituitary Neoplasms, Receptors, G-Protein-Coupled, Treatment Outcome, Young Adult

Relation: https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-016-0328-1; Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. 2016, 4 (1):56 Acta Neuropathol Commun; http://hdl.handle.net/11287/620515; Acta neuropathologica communications

الاتاحة: http://hdl.handle.net/11287/620515
https://doi.org/10.1186/s40478-016-0328-1

المؤلفون: Burren, C, Curley, A, Christie, P, Rodda, C, Thakker, R

Relation: https://ora.ox.ac.uk/objects/uuid:5e8f6493-fa6f-46d9-a860-de5a6827cb5c; https://doi.org/10.1515/jpem.2005.18.7.689

الاتاحة: https://doi.org/10.1515/jpem.2005.18.7.689
https://ora.ox.ac.uk/objects/uuid:5e8f6493-fa6f-46d9-a860-de5a6827cb5c

المؤلفون: Blair, J. C., Camacho-Hubner, C., Miraki Moud, F., Rosberg, Sten, 1945, Burren, C., Lim, S., Clayton, P. E., Bjarnason, Ragnar, 1959, Albertsson-Wikland, Kerstin, 1947, Savage, M. O.

المصدر: Clin Endocrinol (Oxf). 60(2):163-8

مصطلحات موضوعية: Pediatrics, Pediatrik

URL الوصول: https://gup.ub.gu.se/publication/42976

المؤلفون: Hwa V, Oh Y, Burren C, Choi Wh, Graham DL, Ingermann A, Kim H, Bermejo AL, Minniti G, K Pai, Spagnoli A, Vorwerk P, WaneK DLV, Wilson EM, Yamanaka Y, Yang DH, Rosenfeld RG

المساهمون: Ron Rosenfeld and Charlie Roberts Jr, Hwa, V, Oh, Y, Burren, C, Choi, Wh, Graham, Dl, Ingermann, A, Kim, H, Bermejo, Al, Minniti, G, K, Pai, Spagnoli, A, Vorwerk, P, Wanek, Dlv, Wilson, Em, Yamanaka, Y, Yang, Dh, Rosenfeld, Rg

Relation: ispartofbook:The IGF system: Molecular biology, phisiology and clinical applications’; https://hdl.handle.net/11573/1676317

الاتاحة: https://hdl.handle.net/11573/1676317