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Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, Ng BK, Cheng JC, Dobbs MB, Gurnett CA. Buchan JG, et al. Among authors: morcuende ja. Hum Mol Genet. 2014 Oct 1;23(19):5271-82. doi: 10.1093/hmg/ddu224. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833718 Free PMC article.
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.
Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, Whittle J, Upshaw Z, Shin J, Baschal E, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise C, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA. Haller G, et al. Among authors: morcuende ja. Nat Commun. 2018 Oct 9;9(1):4171. doi: 10.1038/s41467-018-06705-0. Nat Commun. 2018. PMID: 30301978 Free PMC article.
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Sadler B, et al. J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25. J Med Genet. 2019. PMID: 30803986 Free PMC article.
Treatment of the complex idiopathic clubfoot.
Ponseti IV, Zhivkov M, Davis N, Sinclair M, Dobbs MB, Morcuende JA. Ponseti IV, et al. Among authors: morcuende ja. Clin Orthop Relat Res. 2006 Oct;451:171-6. doi: 10.1097/01.blo.0000224062.39990.48. Clin Orthop Relat Res. 2006. PMID: 16788408
133 results