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Items: 17

1.

The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.

Dobbs MB, Gurnett CA.

Clin Orthop Relat Res. 2017 Jun;475(6):1716-1725. doi: 10.1007/s11999-017-5290-0. Epub 2017 Feb 24.

PMID:
28236079
2.

A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years.

Yong BC, Xun FX, Zhao LJ, Deng HW, Xu HW.

Springerplus. 2016 Jun 27;5(1):896. doi: 10.1186/s40064-016-2353-8. eCollection 2016. Review.

3.

Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism.

Weymouth KS, Blanton SH, Powell T, Patel CV, Savill SA, Hecht JT.

Clin Orthop Relat Res. 2016 Jul;474(7):1726-35. doi: 10.1007/s11999-016-4788-1. Epub 2016 Mar 28.

4.

Genetic basis of hindlimb loss in a naturally occurring vertebrate model.

Don EK, de Jong-Curtain TA, Doggett K, Hall TE, Heng B, Badrock AP, Winnick C, Nicholson GA, Guillemin GJ, Currie PD, Hesselson D, Heath JK, Cole NJ.

Biol Open. 2016 Feb 18;5(3):359-66. doi: 10.1242/bio.016295.

5.

Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.

Alvarado DM, McCall K, Hecht JT, Dobbs MB, Gurnett CA.

J Med Genet. 2016 Apr;53(4):250-5. doi: 10.1136/jmedgenet-2015-103505. Epub 2016 Jan 4.

6.

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R.

PLoS One. 2015 Sep 18;10(9):e0138314. doi: 10.1371/journal.pone.0138314. eCollection 2015.

7.

Soft-Tissue Abnormalities Associated with Treatment-Resistant and Treatment-Responsive Clubfoot: Findings of MRI Analysis.

Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB.

J Bone Joint Surg Am. 2014 Aug 6;96(15):1249-1256.

8.

Are copy number variants associated with adolescent idiopathic scoliosis?

Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA.

Clin Orthop Relat Res. 2014 Oct;472(10):3216-25. doi: 10.1007/s11999-014-3766-8. Epub 2014 Jul 9.

9.

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.

Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA.

Nucleic Acids Res. 2014 Jun;42(10):e82. doi: 10.1093/nar/gku218. Epub 2014 Mar 20.

10.

Heritability of clubfoot: a twin study.

Engell V, Nielsen J, Damborg F, Kyvik KO, Thomsen K, Pedersen NW, Andersen M, Overgaard S.

J Child Orthop. 2014 Feb;8(1):37-41. doi: 10.1007/s11832-014-0562-7. Epub 2014 Feb 7.

11.

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM.

J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16.

12.

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.

Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA.

Eur J Hum Genet. 2013 Apr;21(4):373-80. doi: 10.1038/ejhg.2012.177. Epub 2012 Aug 15.

13.

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT.

Am J Med Genet A. 2012 Jul;158A(7):1620-7. doi: 10.1002/ajmg.a.35418. Epub 2012 Jun 7.

14.

Genetics of clubfoot.

Dobbs MB, Gurnett CA.

J Pediatr Orthop B. 2012 Jan;21(1):7-9. doi: 10.1097/BPB.0b013e328349927c. Review.

15.

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.

Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2011 Oct 15;20(20):3943-52. doi: 10.1093/hmg/ddr313. Epub 2011 Jul 20.

16.

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.

Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2011 Jun 1;93(11):1045-50. doi: 10.2106/JBJS.J.02004.

17.

cis-regulatory mutations are a genetic cause of human limb malformations.

VanderMeer JE, Ahituv N.

Dev Dyn. 2011 May;240(5):920-30. doi: 10.1002/dvdy.22535. Epub 2011 Jan 11. Review.

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