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Items: 1 to 20 of 373

1.

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.

2.

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
3.

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.

4.

The mutational spectrum of brachydactyly type C.

Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML.

Am J Med Genet. 2002 Oct 15;112(3):291-6.

PMID:
12357473
5.

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.

6.

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC.

Clin Genet. 2002 Jun;61(6):454-8.

PMID:
12121354
7.

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.

Galjaard RJ, van der Ham LI, Posch NA, Dijkstra PF, Oostra BA, Hovius SE, Timmenga EJ, Sonneveld GJ, Hoogeboom AJ, Heutink P.

Am J Med Genet. 2001 Jan 22;98(3):256-62.

PMID:
11169564
8.

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

Schwabe GC, Türkmen S, Leschik G, Palanduz S, Stöver B, Goecke TO, Mundlos S.

Am J Med Genet A. 2004 Feb 1;124A(4):356-63.

PMID:
14735582
9.

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.

Holder-Espinasse M, Escande F, Mayrargue E, Dieux-Coeslier A, Fron D, Doual-Bisser A, Boute-Benejean O, Robert Y, Porchet N, Manouvrier-Hanu S.

J Med Genet. 2004 Jun;41(6):e78. No abstract available.

10.

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC.

Am J Med Genet. 2002 Jul 22;111(1):31-7. Review.

PMID:
12124730
11.

Autosomal dominant transmission of isolated congenital vertical talus.

Stern HJ, Clark RD, Stroberg AJ, Shohat M.

Clin Genet. 1989 Dec;36(6):427-30.

PMID:
2591068
12.

Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.

Elliott AM, Evans JA.

Am J Med Genet A. 2006 Jul 1;140(13):1419-27.

PMID:
16688749
13.

Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study.

Kruse L, Gurnett CA, Hootnick D, Dobbs MB.

Clin Orthop Relat Res. 2009 May;467(5):1250-5. doi: 10.1007/s11999-008-0673-x. Epub 2009 Jan 6.

14.

A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.

Luo T, Yu W, Yuan Z, Deng Y, Zhao Y, Yuan W, Xiao J, Wang Y, Luo N, Mo X, Li Y, Liu M, Wu X.

Mutat Res. 2008 Jan 1;637(1-2):182-9. Epub 2007 Aug 26.

PMID:
17915261
15.

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

Julia S, Pedespan JM, Boudard P, Barbier R, Gavilan-Cellie I, Chateil JF, Lacombe D.

Am J Med Genet. 2002 Jun 15;110(2):179-81.

PMID:
12116258
16.

Teunissen-Cremers syndrome: a clinical, surgical, and genetic report.

Weekamp HH, Kremer H, Hoefsloot LH, Kuijpers-Jagtman AM, Cruysberg JR, Cremers CW.

Otol Neurotol. 2005 Jan;26(1):38-51.

PMID:
15699718
17.

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP.

Nat Genet. 1997 Sep;17(1):58-64.

PMID:
9288098
18.

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

Wang X, Xiao F, Yang Q, Liang B, Tang Z, Jiang L, Zhu Q, Chang W, Jiang J, Jiang C, Ren X, Liu JY, Wang QK, Liu M.

Am J Med Genet A. 2006 Sep 1;140A(17):1846-53.

PMID:
16892395
19.

Congenital vertical talus and its familial occurrence: an analysis of 36 patients.

Ogata K, Schoenecker PL, Sheridan J.

Clin Orthop Relat Res. 1979 Mar-Apr;(139):128-32.

PMID:
455829
20.

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