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Akademický článek

Clinical guidelines for the management of craniofacial fibrous dysplasia

Autor: Lee JS, FitzGibbon EJ, Chen YR, Kim HJ, Lustig LR, Akintoye SO, Collins MT, Kaban LB

Publikováno v: Orphanet Journal of Rare Diseases, Vol 7, Iss Suppl 1, p S2 (2012)

Abstract Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement

Externí odkaz: https://doaj.org/article/d1fa5366e7e2443ba0da2d8c1b9751f4

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Hypoparathyroidism

Autor: Gafni RI, Collins MT

Publikováno v: Yearbook of Paediatric Endocrinology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2792e85e234869747e8f2e9db941a18f
https://doi.org/10.1530/ey.16.5.10

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The Consensus from the Mycobacterium avium ssp. paratuberculosis (MAP) Conference 2017

Autor: Kuenstner, JT, Naser, S, Chamberlin, W, Borody, T, Graham, DY, McNees, A, Hermon-Taylor, J, Hermon-Taylor, A, Dow, CT, Thayer, W, Biesecker, J, Collins, MT, Sechi, LA, Singh, SV, Zhang, P, Shafran, I, Weg, S, Telega, G, Rothstein, R, Oken, H, Schimpff, S, Bach, H, Bull, T, Grant, I, Ellingson, J, Dahmen, H, Lipton, J, Gupta, S, Chaubey, K, Singh, M, Agarwal, P, Kumar, A, Misri, J, Sohal, J, Dhama, K, Hemati, Z, Davis, W, Hier, M, Aitken, J, Pierce, E, Parrish, N, Goldberg, N, Kali, M, Bendre, S, Agrawal, G, Baldassano, R, Linn, P, Sweeney, RW, Fecteau, M, Hofstaedter, C, Potula, R, Timofeeva, O, Geier, S, John, K, Zayanni, N, Malaty, HM, Kahlenborn, C, Kravitz, A, Bulfon, A, Daskalopoulos, G, Mitchell, H, Neilan, B, Timms, V, Cossu, D, Mameli, G, Angermeier, P, Jelic, T, Goethe, R, Juste, RA, Kuenstner, L

On March 24 and 25, 2017 researchers and clinicians from around the world met at Temple University in Philadelphia to discuss the current knowledge of Mycobacterium avium ssp. paratuberculosis (MAP) and its relationship to human disease. The conferen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::fecec3964f86138fb3ba0f17747fd462
https://openaccess.sgul.ac.uk/id/eprint/109239/1/fpubh-05-00208.pdf

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Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

Autor: Ovejero, D, Lim, YH, Boyce, AM, Gafni, RI, McCarthy, E, Nguyen, TA, Eichenfield, LF, DeKlotz, CMC, Guthrie, LC, Tosi, LL, Thornton, PS, Choate, KA, Collins, MT

Publikováno v: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, vol 27, iss 12

Cutaneous skeletal hypophosphatemia syndrome (CSHS), caused by somatic RAS mutations, features excess fibroblast growth factor-23 (FGF23) and skeletal dysplasia. Records from 56 individuals were reviewed and demonstrated fractures, scoliosis, and non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::684aacb3c5e1db0be0fe2be0e33ab015
https://escholarship.org/uc/item/7rz554qz

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Identification of contaminating bacteria when attempting to isolate Mycobacterium avium subsp. paratuberculosis (MAP) from bovine faecal and tissue samples using the BACTEC MGIT 960 system

Autor: Steuer, P, de Waard, J, Collins, MT, Troncoso, EP, Martínez, OA, Tejeda, C, Salgado, MA

Publikováno v: Archivos de medicina veterinaria, Volume: 47, Issue: 1, Pages: 100-97, Published: 2015

Diagnosis of Mycobacterium avium subsp. paratuberculosis infection by liquid culture is sensitive, faster than conventional solid culture and automated. However, a disadvantage of these culture systems is the potential for high frequency of culture c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______614::f0293b4e7ae091a25755f7ec6980863a
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0301-732X2015000100016&lng=en&tlng=en

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