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Items: 1 to 20 of 31

1.

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.

2.

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB.

Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.

3.

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

van der Zwaag PA, Dijkhuizen T, Gerssen-Schoorl KB, Colijn AW, Broens PM, Flapper BC, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2010 Jan-Feb;53(1):45-9. doi: 10.1016/j.ejmg.2009.11.003. Epub 2009 Nov 23.

PMID:
19941983
4.

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P.

J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6.

PMID:
19584065
5.

Arthrogryposis: a review and update.

Bamshad M, Van Heest AE, Pleasure D.

J Bone Joint Surg Am. 2009 Jul;91 Suppl 4:40-6. doi: 10.2106/JBJS.I.00281. Review. No abstract available.

6.

A new approach to the treatment of congenital vertical talus.

Alaee F, Boehm S, Dobbs MB.

J Child Orthop. 2007 Sep;1(3):165-74. doi: 10.1007/s11832-007-0037-1. Epub 2007 Aug 1.

7.

Impact of congenital talipes equinovarus etiology on treatment outcomes.

Gurnett CA, Boehm S, Connolly A, Reimschisel T, Dobbs MB.

Dev Med Child Neurol. 2008 Jul;50(7):498-502. doi: 10.1111/j.1469-8749.2008.03016.x.

8.

Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus.

Gurnett CA, Keppel C, Bick J, Bowcock AM, Dobbs MB.

Clin Orthop Relat Res. 2007 Sep;462:27-31.

PMID:
17417092
9.

Early results of a new method of treatment for idiopathic congenital vertical talus. Surgical technique.

Dobbs MB, Purcell DB, Nunley R, Morcuende JA.

J Bone Joint Surg Am. 2007 Mar;89 Suppl 2 Pt.1:111-21.

PMID:
17332130
10.

Early results of a new method of treatment for idiopathic congenital vertical talus.

Dobbs MB, Purcell DB, Nunley R, Morcuende JA.

J Bone Joint Surg Am. 2006 Jun;88(6):1192-200.

PMID:
16757750
11.

HOXD10 M319K mutation in a family with isolated congenital vertical talus.

Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM.

J Orthop Res. 2006 Mar;24(3):448-53.

12.

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation.

Dobbs MB, Gurnett CA, Robarge J, Gordon JE, Morcuende JA, Bowcock AM.

J Orthop Res. 2005 Nov;23(6):1490-4. Epub 2005 Jul 11.

13.

Congenital vertical talus in arthrogryposis and other contractural syndromes.

Aroojis AJ, King MM, Donohoe M, Riddle EC, Kumar SJ.

Clin Orthop Relat Res. 2005 May;(434):26-32.

PMID:
15864028
14.

A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.

Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR.

Am J Hum Genet. 2004 Jul;75(1):92-6. Epub 2004 May 14.

15.

A case of double trisomy: trisomy No. 18 and triplo- X.

UCHIDA IA, LEWIS AJ, BOWMAN JM, WANG HC.

J Pediatr. 1962 Apr;60:498-502. No abstract available.

PMID:
13923411
16.

Trisomy 13-15 in a male infant.

TOWNES PL, DEHART GK Jr, HECHT F, MANNING JA.

J Pediatr. 1962 Apr;60:528-32. No abstract available.

PMID:
13922200
17.

Congenital vertical talus.

LLOYD-ROBERTS GC, SPENCE AJ.

J Bone Joint Surg Br. 1958 Feb;40-B(1):33-41. No abstract available.

PMID:
13513648
18.

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML.

Am J Med Genet A. 2003 Mar 1;117A(2):136-42.

PMID:
12567410
19.

Autosomal dominant transmission of isolated congenital vertical talus.

Dobbs MB, Schoenecker PL, Gordon JE.

Iowa Orthop J. 2002;22:25-7. No abstract available.

20.

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