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Items: 1 to 20 of 91

1.

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA.

Am J Hum Genet. 2010 Jul 9;87(1):154-60. doi: 10.1016/j.ajhg.2010.06.010.

2.

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.

3.

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238.

PMID:
24592505
4.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.

Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4.

5.

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.

6.

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.

Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, Shchelochkov OA.

Am J Med Genet A. 2011 Feb;155A(2):418-23. doi: 10.1002/ajmg.a.33827. Epub 2011 Jan 13.

PMID:
21271665
7.

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

Wessel K, Suleiman J, Khalaf TE, Kishore S, Rolfs A, El-Hattab AW.

BMC Med Genet. 2017 Oct 25;18(1):119. doi: 10.1186/s12881-017-0479-3.

8.

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.

Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet A. 2011 Dec;155A(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3.

PMID:
22052739
9.

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.

10.

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB.

Am J Hum Genet. 2008 Nov;83(5):616-22. doi: 10.1016/j.ajhg.2008.10.004. Epub 2008 Oct 23.

11.

Mutations in the human TBX4 gene cause small patella syndrome.

Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H.

Am J Hum Genet. 2004 Jun;74(6):1239-48. Epub 2004 Apr 21.

12.

Genetics of clubfoot.

Dobbs MB, Gurnett CA.

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

13.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
14.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL.

Am J Med Genet A. 2015 Sep;167A(9):2052-64. doi: 10.1002/ajmg.a.37120. Epub 2015 Jun 11.

PMID:
26097203
15.

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L.

Eur J Med Genet. 2012 Dec;55(12):732-6. doi: 10.1016/j.ejmg.2012.08.011. Epub 2012 Oct 9.

PMID:
23059467
16.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A.

Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.

17.

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.

Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT.

Am J Med Genet A. 2011 Sep;155A(9):2170-9. doi: 10.1002/ajmg.a.34167. Epub 2011 Aug 10.

18.

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P.

Eur J Med Genet. 2014 Oct;57(10):552-7. doi: 10.1016/j.ejmg.2014.07.003. Epub 2014 Aug 6.

PMID:
25106685
19.

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.

20.

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.

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