Syndroom van Bruck (Dutch Wikipedia)

Analysis of information sources in references of the Wikipedia article "Syndroom van Bruck" in Dutch language version.

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doi.org

(en) Ishikawa, Yoshihiro (14 november 2008). The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens. Journal of Biological Chemistry 283 (46): 31584–31590. ISSN: 0021-9258. PMID 18786928. DOI: 10.1074/jbc.M802535200.
(en) Slot, Annemarie J. van der (17 oktober 2003). Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. Journal of Biological Chemistry 278 (42): 40967–40972. ISSN: 0021-9258. PMID 12881513. DOI: 10.1074/jbc.M307380200.
(en) Bank, Ruud A. (2 februari 1999). Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proceedings of the National Academy of Sciences 96 (3): 1054–1058. ISSN: 0027-8424. PMID 9927692. DOI: 10.1073/pnas.96.3.1054.
(en) Zhou, Peiran (19 september 2014). Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients. PLOS ONE 9 (9): e107594. ISSN: 1932-6203. PMID 25238597. PMC 4169569. DOI: 10.1371/journal.pone.0107594.
(en) Puig-Hervás, Maria Trinidad (1 oktober 2012). Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum. Human Mutation 33 (10): 1444–1449. ISSN: 1098-1004. DOI: 10.1002/humu.22133.

jbc.org

(en) Ishikawa, Yoshihiro (14 november 2008). The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens. Journal of Biological Chemistry 283 (46): 31584–31590. ISSN: 0021-9258. PMID 18786928. DOI: 10.1074/jbc.M802535200.
(en) Slot, Annemarie J. van der (17 oktober 2003). Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. Journal of Biological Chemistry 278 (42): 40967–40972. ISSN: 0021-9258. PMID 12881513. DOI: 10.1074/jbc.M307380200.

nih.gov

ncbi.nlm.nih.gov

(en) Ishikawa, Yoshihiro (14 november 2008). The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens. Journal of Biological Chemistry 283 (46): 31584–31590. ISSN: 0021-9258. PMID 18786928. DOI: 10.1074/jbc.M802535200.
(en) Slot, Annemarie J. van der (17 oktober 2003). Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. Journal of Biological Chemistry 278 (42): 40967–40972. ISSN: 0021-9258. PMID 12881513. DOI: 10.1074/jbc.M307380200.
(en) Bank, Ruud A. (2 februari 1999). Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proceedings of the National Academy of Sciences 96 (3): 1054–1058. ISSN: 0027-8424. PMID 9927692. DOI: 10.1073/pnas.96.3.1054.
(en) Zhou, Peiran (19 september 2014). Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients. PLOS ONE 9 (9): e107594. ISSN: 1932-6203. PMID 25238597. PMC 4169569. DOI: 10.1371/journal.pone.0107594.
(en) Viljoen, D., Versfeld, G., Beighton, P. Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Clin. Genet. 36: 122-126, 1989. PubMed: 2766569

plos.org

journals.plos.org

(en) Zhou, Peiran (19 september 2014). Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients. PLOS ONE 9 (9): e107594. ISSN: 1932-6203. PMID 25238597. PMC 4169569. DOI: 10.1371/journal.pone.0107594.

pnas.org

(en) Bank, Ruud A. (2 februari 1999). Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proceedings of the National Academy of Sciences 96 (3): 1054–1058. ISSN: 0027-8424. PMID 9927692. DOI: 10.1073/pnas.96.3.1054.

viamedica.pl

journals.viamedica.pl

In 2015 waren er in totaal 28 casussen van aangedane personen of families beschreven, volgens Endokrynologia Polska.

wiley.com

onlinelibrary.wiley.com

(en) Puig-Hervás, Maria Trinidad (1 oktober 2012). Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum. Human Mutation 33 (10): 1444–1449. ISSN: 1098-1004. DOI: 10.1002/humu.22133.
(en) Russia Ha-Vinh, Yasemin Alanay, Ruud A. Bank, Ana Belinda Campos-Xavier, Andreas Zankl, Andrea Superti-Furga1, Luisa Bonafé: Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

worldcat.org

(en) Ishikawa, Yoshihiro (14 november 2008). The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens. Journal of Biological Chemistry 283 (46): 31584–31590. ISSN: 0021-9258. PMID 18786928. DOI: 10.1074/jbc.M802535200.
(en) Slot, Annemarie J. van der (17 oktober 2003). Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. Journal of Biological Chemistry 278 (42): 40967–40972. ISSN: 0021-9258. PMID 12881513. DOI: 10.1074/jbc.M307380200.
(en) Bank, Ruud A. (2 februari 1999). Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proceedings of the National Academy of Sciences 96 (3): 1054–1058. ISSN: 0027-8424. PMID 9927692. DOI: 10.1073/pnas.96.3.1054.
(en) Zhou, Peiran (19 september 2014). Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients. PLOS ONE 9 (9): e107594. ISSN: 1932-6203. PMID 25238597. PMC 4169569. DOI: 10.1371/journal.pone.0107594.
(en) Puig-Hervás, Maria Trinidad (1 oktober 2012). Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum. Human Mutation 33 (10): 1444–1449. ISSN: 1098-1004. DOI: 10.1002/humu.22133.