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Items: 1 to 20 of 101

1.

Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.

Baschal EE, Terhune EA, Wethey CI, Baschal RM, Robinson KD, Cuevas MT, Pradhan S, Sutphin BS, Taylor MRG, Gowan K, Pearson CG, Niswander LA, Jones KL, Miller NH.

G3 (Bethesda). 2018 Jul 31;8(8):2663-2672. doi: 10.1534/g3.118.200290.

2.

Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.

Baschal EE, Wethey CI, Swindle K, Baschal RM, Gowan K, Tang NL, Alvarado DM, Haller GE, Dobbs MB, Taylor MR, Gurnett CA, Jones KL, Miller NH.

G3 (Bethesda). 2014 Dec 12;5(2):167-74. doi: 10.1534/g3.114.015669.

3.

Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis.

Grauers A, Wang J, Einarsdottir E, Simony A, Danielsson A, Åkesson K, Ohlin A, Halldin K, Grabowski P, Tenne M, Laivuori H, Dahlman I, Andersen M, Christensen SB, Karlsson MK, Jiao H, Kere J, Gerdhem P.

Spine J. 2015 Oct 1;15(10):2239-46. doi: 10.1016/j.spinee.2015.05.013. Epub 2015 May 15.

PMID:
25987191
4.

A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.

Haller G, Alvarado D, Mccall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2016 Jan 1;25(1):202-9. doi: 10.1093/hmg/ddv463. Epub 2015 Nov 12.

5.

Idiopathic scoliosis in families of children with congenital scoliosis.

Purkiss SB, Driscoll B, Cole WG, Alman B.

Clin Orthop Relat Res. 2002 Aug;(401):27-31.

PMID:
12151879
6.

Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.

Gao W, Chen C, Zhou T, Yang S, Gao B, Zhou H, Lian C, Wu Z, Qiu X, Yang X, Alattar E, Liu W, Su D, Sun S, Chen Y, Cheung KMC, Song Y, Luk KKD, Chan D, Sham PC, Xing C, Khor CC, Liu G, Yang J, Deng Y, Hao D, Huang D, Li QZ, Xu C, Su P.

Hum Mutat. 2017 Nov;38(11):1500-1510. doi: 10.1002/humu.23296. Epub 2017 Jul 25.

PMID:
28714182
7.

Functional variants of POC5 identified in patients with idiopathic scoliosis.

Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P.

J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172/JCI77262. Epub 2015 Feb 2.

8.

Lack of association between the aggrecan gene and familial idiopathic scoliosis.

Marosy B, Justice CM, Nzegwu N, Kumar G, Wilson AF, Miller NH.

Spine (Phila Pa 1976). 2006 Jun 1;31(13):1420-5.

PMID:
16741449
9.

Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis.

Baschal EE, Swindle K, Justice CM, Baschal RM, Perera A, Wethey CI, Poole A, Pourquié O, Tassy O, Miller NH.

Spine Deform. 2015 Jul;3(4):288-296.

10.

Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis.

Miller NH, Mims B, Child A, Milewicz DM, Sponseller P, Blanton SH.

J Orthop Res. 1996 Nov;14(6):994-9.

PMID:
8982144
11.

Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis.

Justice CM, Bishop K, Carrington B, Mullikin JC, Swindle K, Marosy B, Sood R, Miller NH, Wilson AF.

G3 (Bethesda). 2016 Jun 1;6(6):1707-12. doi: 10.1534/g3.116.029975.

12.

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.

Einarsdottir E, Grauers A, Wang J, Jiao H, Escher SA, Danielsson A, Simony A, Andersen M, Christensen SB, Åkesson K, Kou I, Khanshour AM, Ohlin A, Wise C, Ikegawa S, Kere J, Gerdhem P.

PLoS One. 2017 Dec 14;12(12):e0189591. doi: 10.1371/journal.pone.0189591. eCollection 2017.

13.

Localization of susceptibility to familial idiopathic scoliosis.

Wise CA, Barnes R, Gillum J, Herring JA, Bowcock AM, Lovett M.

Spine (Phila Pa 1976). 2000 Sep 15;25(18):2372-80.

PMID:
10984791
14.

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

Sharma S, Gao X, Londono D, Devroy SE, Mauldin KN, Frankel JT, Brandon JM, Zhang D, Li QZ, Dobbs MB, Gurnett CA, Grant SF, Hakonarson H, Dormans JP, Herring JA, Gordon D, Wise CA.

Hum Mol Genet. 2011 Apr 1;20(7):1456-66. doi: 10.1093/hmg/ddq571. Epub 2011 Jan 7.

15.

Characterization of idiopathic scoliosis in a clinically well-defined population.

Miller NH, Schwab DL, Sponseller PD, Manolio TA, Pugh EW, Wilson AP.

Clin Orthop Relat Res. 2001 Nov;(392):349-57.

PMID:
11716406
16.

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.

Hum Mol Genet. 2014 Oct 1;23(19):5271-82. doi: 10.1093/hmg/ddu224. Epub 2014 May 15.

17.

Exome array analysis suggests an increased variant burden in families with schizophrenia.

McCarthy NS, Melton PE, Ward SV, Allan SM, Dragovic M, Clark ML, Morar B, Rubio JP, Blangero J, Badcock JC, Morgan VA, Moses EK, Jablensky A.

Schizophr Res. 2017 Jul;185:9-16. doi: 10.1016/j.schres.2016.12.007. Epub 2016 Dec 9.

PMID:
27939555
18.

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2015 Sep 2;97(17):1411-7. doi: 10.2106/JBJS.O.00290.

19.

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.

Li W, Li Y, Zhang L, Guo H, Tian D, Li Y, Peng Y, Zheng Y, Dai Y, Xia K, Lan X, Wang B, Hu Z.

J Med Genet. 2016 Jul;53(7):488-93. doi: 10.1136/jmedgenet-2015-103684. Epub 2016 Mar 17.

20.

Identification of candidate regions for familial idiopathic scoliosis.

Miller NH, Justice CM, Marosy B, Doheny KF, Pugh E, Zhang J, Dietz HC 3rd, Wilson AF.

Spine (Phila Pa 1976). 2005 May 15;30(10):1181-7.

PMID:
15897833

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