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Items: 1 to 20 of 113

1.

Mutations in GDF5 presenting as semidominant brachydactyly A1.

Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, Bulman DE.

Hum Mutat. 2010 Oct;31(10):1155-62. doi: 10.1002/humu.21338.

PMID:
20683927
2.

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

Stattin EL, Lindén B, Lönnerholm T, Schuster J, Dahl N.

Eur J Med Genet. 2009 Sep-Oct;52(5):297-302. doi: 10.1016/j.ejmg.2009.05.008.

PMID:
19464397
3.

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
4.

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Byrnes AM, Racacho L, Grimsey A, Hudgins L, Kwan AC, Sangalli M, Kidd A, Yaron Y, Lau YL, Nikkel SM, Bulman DE.

Eur J Hum Genet. 2009 Sep;17(9):1112-20. doi: 10.1038/ejhg.2009.18.

5.

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Degenkolbe E, König J, Zimmer J, Walther M, Reißner C, Nickel J, Plöger F, Raspopovic J, Sharpe J, Dathe K, Hecht JT, Mundlos S, Doelken SC, Seemann P.

PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846.

6.

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L.

Nat Genet. 2001 Aug;28(4):386-8.

PMID:
11455389
7.

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Liu M, Wang X, Cai Z, Tang Z, Cao K, Liang B, Ren X, Liu JY, Wang QK.

J Hum Genet. 2006;51(8):727-31.

PMID:
16871364
8.

[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].

Ke X, Dong AL, Liu QJ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):267-71. doi: 10.3760/cma.j.issn.1003-9406.2009.03.007. Chinese. Retraction in: Ke X. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):579.

PMID:
19504437
9.

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE.

Hum Genet. 2002 Oct;111(4-5):368-75.

PMID:
12384778
10.

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
11.

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

Faiyaz-Ul-Haque M, Faqeih EA, Al-Zaidan H, Al-Shammary A, Zaidi SH.

J Bone Miner Metab. 2008;26(6):648-52. doi: 10.1007/s00774-008-0853-5.

PMID:
18979166
12.

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S.

J Med Genet. 2006 Mar;43(3):225-31.

13.

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR.

Am J Hum Genet. 2003 Apr;72(4):1040-6.

14.

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
15.

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.

Ma G, Yu J, Xiao Y, Chan D, Gao B, Hu J, He Y, Guo S, Zhou J, Zhang L, Gao L, Zhang W, Kang Y, Cheah KS, Feng G, Guo X, Wang Y, Zhou CZ, He L.

Cell Res. 2011 Sep;21(9):1343-57. doi: 10.1038/cr.2011.76.

16.

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.

Lodder EM, Hoogeboom AJ, Coert JH, de Graaff E.

Am J Med Genet A. 2008 Aug 15;146A(16):2152-4. doi: 10.1002/ajmg.a.32441.

PMID:
18629882
17.

Brachydactyly type A1 with short humerus and associated skeletal features.

Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF.

Am J Med Genet A. 2010 Dec;152A(12):3016-21. doi: 10.1002/ajmg.a.33761.

PMID:
21077205
18.

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.

Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W.

Clin Genet. 2012 Jul;82(1):48-55. doi: 10.1111/j.1399-0004.2011.01698.x.

PMID:
21554266
19.

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE.

Eur J Hum Genet. 2015 Dec;23(12):1640-5. doi: 10.1038/ejhg.2015.38.

20.

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.

Farooq M, Nakai H, Fujimoto A, Fujikawa H, Kjaer KW, Baig SM, Shimomura Y.

Hum Genet. 2013 Nov;132(11):1253-64. doi: 10.1007/s00439-013-1330-3.

PMID:
23812741
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