| 1 | DPD1, TGFB1
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| Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
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| Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guanabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melancon S, Cundy T, Van Hul W.
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| J Med Genet 43(1):1-11. Epub 2005 May 13. 2006
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| 2 | TGFB1, DPD1
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| TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
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| Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K.
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| Am J Med Genet 127A(1):104-7. No abstract available. 2004
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| 3 | TGFB1, DPD1
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| Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
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| Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR.
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| Am J Med Genet 129A(3):235-47. 2004
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| 4 | DPD1, TGFB1
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| Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
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| Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V.
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| Hum Genet 109(6):653-8. 2001
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| 5 | DPD1, TGFB1
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| Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
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| Saito T, Kinoshita A, Yoshiura Ki, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N.
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| J Biol Chem 276(15):11469-72. 2001
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| 6 | DPD1
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| Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.
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| Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita Ha.
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| Am J Hum Genet 66(1):143-7. 2000
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| 7 | DPD1
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| Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.
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| Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guanabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W.
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| J Med Genet 37(4):245-9. 2000
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| 8 | DPD1
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| Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
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| Vaughn SP, Broussard S, Hall CR, Scott A, Blanton SH, Milunsky JM, Hecht JT.
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| Genomics 66(1):119-21. 2000
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| 9 | DPD1, TGFB1
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| TGF-beta1 stimulates expression of the aromatase (CYP19) gene in human osteoblast-like cells and THP-1 cells.
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| Shozu M, Zhao Y, Simpson ER.
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| Mol Cell Endocrinol 160(1-2):123-33. 2000
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| 10 | DPD1, TGFB1
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| Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
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| Kinoshita A, Saito T, Tomita Ha, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura Ki.
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| Nat Genet 26(1):19-20. No abstract available. 2000
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| 11 | DPD1, TGFB1
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| Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
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| Janssens K, Gershoni-Baruch R, Guanabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W.
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| Nat Genet 26(3):273-5. 2000
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| 12 | DPD1
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| Genetic homogeneity of the Camurati-Engelmann disease.
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| Belinda A, Xavier CF, Saraiva JM, Le Merrer M, Dagoneau N, Huber C, Penet C, Munnich A, Cormier-Daire V.
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| Clin Genet 58(2):150-2. No abstract available. 2000
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