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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 2
2004 1
2005 1
2008 1
2009 2
2011 2
2012 2
2013 1
2014 2
2015 2
2016 1
2017 1
2023 1
2024 0

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18 results

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Page 1
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonafé L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Paganini C, et al. Among authors: campos xavier ab. Bone. 2023 Oct;175:116838. doi: 10.1016/j.bone.2023.116838. Epub 2023 Jul 16. Bone. 2023. PMID: 37454964 Free article.
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. Garcia Segarra N, et al. Among authors: campos xavier ab. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791401 Review.
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
Lindert U, Kraenzlin M, Campos-Xavier AB, Baumgartner MR, Bonafé L, Giunta C, Rohrbach M. Lindert U, et al. Among authors: campos xavier ab. Orphanet J Rare Dis. 2015 Aug 27;10:104. doi: 10.1186/s13023-015-0315-9. Orphanet J Rare Dis. 2015. PMID: 26306627 Free PMC article.
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Machol K, et al. Among authors: campos xavier ab. Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26. Am J Med Genet A. 2017. PMID: 27888646 Free PMC article.
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A. Simon M, et al. Among authors: campos xavier ab. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):230-7. doi: 10.1002/ajmg.c.31339. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791571
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. Bonafé L, et al. Among authors: campos xavier ab. Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648384
18 results