Choroba Camuratiego-Engelmanna (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Choroba Camuratiego-Engelmanna" in Polish language version.

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K. Janssens, F. Vanhoenacker, M. Bonduelle, L. Verbruggen i inni. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.. „J Med Genet”. 43 (1), s. 1-11, 2006. DOI: 10.1136/jmg.2005.033522. PMID: 15894597.

doi.org

MP. Whyte, WG. Totty, DV. Novack, X. Zhang i inni. Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.. „J Bone Miner Res”. 26 (5), s. 920-33, May 2011. DOI: 10.1002/jbmr.283. PMID: 21541994.
Edward B. D. Neuhauser, Harry Shwachman, Martin Wittenborg, Jonathan Cohen. Progressive diaphyseal dysplasia.. „Radiology”. 51 (1), s. 11-22, Jul 1948. DOI: 10.1148/51.1.11. PMID: 18869144.
A. Kinoshita, T. Saito, H. Tomita, Y. Makita i inni. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.. „Nat Genet”. 26 (1), s. 19-20, Sep 2000. DOI: 10.1038/79128. PMID: 10973241.
K. Janssens, F. Vanhoenacker, M. Bonduelle, L. Verbruggen i inni. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.. „J Med Genet”. 43 (1), s. 1-11, 2006. DOI: 10.1136/jmg.2005.033522. PMID: 15894597.
M. Toumba, V. Neocleous, C. Shammas, V. Anastasiadou i inni. A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands.. „J Pediatr Endocrinol Metab”. 26 (11-12), s. 1189-95, 2013. DOI: 10.1515/jpem-2013-0150. PMID: 23846138.

google.pl

books.google.pl

Peter Beighton, Greta Beighton: The Man Behind the Syndrome. Springer Science & Business Media, 2012, s. 210. ISBN 978-1-4471-1415-4.

icm.edu.pl

yadda.icm.edu.pl

Piotr Zakrzewski. Zaburzenia kaskady transformujących czynnikow wzrostu typu β w wybranych patologiach człowieka. „Folia Medica Lodziensia”. 39 (2), s. 265-292, 2012. ISSN 0071-6731.

imdb.com

John Belluso w bazie IMDb (ang.)

nih.gov

ncbi.nlm.nih.gov

Edward Alfred Cockayne. Case for Diagnosis.. „Proc R Soc Med”. 13 (Sect Study Dis Child), s. 132-6, 1920. PMID: 19981348.
E. A. COCKAYNE.. „Br Med J”. 2 (5005), s. 1370, 1956. PMID: 13374339.
MP. Whyte, WG. Totty, DV. Novack, X. Zhang i inni. Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.. „J Bone Miner Res”. 26 (5), s. 920-33, May 2011. DOI: 10.1002/jbmr.283. PMID: 21541994.
Edward B. D. Neuhauser, Harry Shwachman, Martin Wittenborg, Jonathan Cohen. Progressive diaphyseal dysplasia.. „Radiology”. 51 (1), s. 11-22, Jul 1948. DOI: 10.1148/51.1.11. PMID: 18869144.
A. Kinoshita, T. Saito, H. Tomita, Y. Makita i inni. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.. „Nat Genet”. 26 (1), s. 19-20, Sep 2000. DOI: 10.1038/79128. PMID: 10973241.
K. Janssens, F. Vanhoenacker, M. Bonduelle, L. Verbruggen i inni. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.. „J Med Genet”. 43 (1), s. 1-11, 2006. DOI: 10.1136/jmg.2005.033522. PMID: 15894597.
M. Toumba, V. Neocleous, C. Shammas, V. Anastasiadou i inni. A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands.. „J Pediatr Endocrinol Metab”. 26 (11-12), s. 1189-95, 2013. DOI: 10.1515/jpem-2013-0150. PMID: 23846138.
G. Nishimura, H. Nishimura, Y. Tanaka, Y. Makita i inni. Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.. „Am J Med Genet”. 107 (1), s. 5-11, Jan 2002. PMID: 11807860.

pubmed.ncbi.nlm.nih.gov

Edward B. D. Neuhauser, Harry Shwachman, Martin Wittenborg, Jonathan Cohen. Progressive diaphyseal dysplasia.. „Radiology”. 51 (1), s. 11-22, Jul 1948. DOI: 10.1148/51.1.11. PMID: 18869144.

nytimes.com

Jesse McKinley: John Belluso, Who Wrote Plays About Disability, Is Dead at 36. The New York Times Company, 2016-02-15. [dostęp 2016-05-14]. (ang.).

omim.org

CAMURATI-ENGELMANN DISEASE; CAEND. Online Mendelian Inheritance in Man, 2012-10-07. [dostęp 2016-05-14].
CAMURATI-ENGELMANN DISEASE, TYPE 2. Online Mendelian Inheritance in Man, 2011-07-12. [dostęp 2016-05-14].

orpha.net

Camurati-Engelmann disease ORPHA1328. Orphanet, 2013. [dostęp 2016-05-14]. (ang.).

termedia.pl

Aleksandra Zoń-Giebel, Danuta Kapołka. Trudności diagnostyczne w chorobie Camuratiego-Engelmanna – opis przypadku. „Reumatologia”. 44 (3), 2006.

wiley.com

onlinelibrary.wiley.com

MP. Whyte, WG. Totty, DV. Novack, X. Zhang i inni. Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.. „J Bone Miner Res”. 26 (5), s. 920-33, May 2011. DOI: 10.1002/jbmr.283. PMID: 21541994.

worldcat.org

Piotr Zakrzewski. Zaburzenia kaskady transformujących czynnikow wzrostu typu β w wybranych patologiach człowieka. „Folia Medica Lodziensia”. 39 (2), s. 265-292, 2012. ISSN 0071-6731.