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Results: 1 to 20 of 83

Similar articles for PubMed (Select 21037275)

1.

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S.

J Med Genet. 2011 Jan;48(1):32-7. doi: 10.1136/jmg.2010.080226. Epub 2010 Oct 30.

PMID:
21037275
2.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V.

Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22.

3.

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Laccone F, Schoner K, Krabichler B, Kluge B, Schwerdtfeger R, Schulze B, Zschocke J, Rehder H.

Eur J Hum Genet. 2011 Nov;19(11):1133-7. doi: 10.1038/ejhg.2011.101. Epub 2011 Jun 8.

4.

XYLT1 mutations in Desbuquois dysplasia type 2.

Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27.

5.

Identification of CANT1 mutations in Desbuquois dysplasia.

Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 Nov;85(5):706-10. doi: 10.1016/j.ajhg.2009.10.001. Epub 2009 Oct 22.

6.

Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

Al Kaissi A, Ganger R, Roetzer KM, Schwarzbraun T, Klaushofer K, Grill F.

Orthop Surg. 2013 Feb;5(1):33-9. doi: 10.1111/os.12023.

PMID:
23420745
7.

A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

Singh A, Kim OH, Iida A, Park WY, Ikegawa S, Kapoor S.

Eur J Med Genet. 2015 Feb;58(2):105-10. doi: 10.1016/j.ejmg.2014.11.006. Epub 2014 Dec 5.

PMID:
25486376
8.

Mutation of CANT1 causes Desbuquois dysplasia.

Faden M, Al-Zahrani F, Arafah D, Alkuraya FS.

Am J Med Genet A. 2010 May;152A(5):1157-60. doi: 10.1002/ajmg.a.33404.

PMID:
20425819
9.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A.

Am J Med Genet A. 2010 Apr;152A(4):875-85. doi: 10.1002/ajmg.a.33347.

PMID:
20358597
10.

Desbuquois syndrome.

Le Merrer M, Young ID, Stanescu V, Maroteaux P.

Eur J Pediatr. 1991 Sep;150(11):793-6.

PMID:
1959544
11.

Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.

Costa T, Ramsby G, Cassia F, Peters KR, Soares J, Correa J, Quelce-Salgado A, Tsipouras P.

Am J Med Genet. 1998 Feb 17;75(5):523-9.

PMID:
9489798
12.

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.

Dai J, Kim OH, Cho TJ, Miyake N, Song HR, Karasugi T, Sakazume S, Ikema M, Matsui Y, Nagai T, Matsumoto N, Ohashi H, Kamatani N, Nishimura G, Furuichi T, Takahashi A, Ikegawa S.

J Hum Genet. 2011 May;56(5):398-400. doi: 10.1038/jhg.2011.28. Epub 2011 Mar 17.

PMID:
21412251
13.

Clinical and genetic heterogeneity in Desbuquois dysplasia.

Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2004 Jul 1;128A(1):29-32.

PMID:
15211652
14.

Lethality in Desbuquois dysplasia: three new cases.

Hall BD.

Pediatr Radiol. 2001 Jan;31(1):43-7. Review.

PMID:
11200998
15.

IMPAD1 mutations in two Catel-Manzke like patients.

Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, Huber C, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2012 Sep;158A(9):2183-7. doi: 10.1002/ajmg.a.35504. Epub 2012 Aug 6.

PMID:
22887726
16.

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.

Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A.

Matrix Biol. 2013 Oct-Nov;32(7-8):387-92. doi: 10.1016/j.matbio.2013.05.001. Epub 2013 May 9.

PMID:
23665482
17.

Hand involvement in Schmid metaphyseal chondrodysplasia.

Elliott AM, Field FM, Rimoin DL, Lachman RS.

Am J Med Genet A. 2005 Jan 15;132A(2):191-3.

PMID:
15578582
18.

Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.

Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R.

Am J Med Genet A. 2004 Jan 1;124A(1):48-53.

PMID:
14679586
19.

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S.

Pediatr Int. 2014 Aug;56(4):e26-9. doi: 10.1111/ped.12383.

PMID:
25252066
20.

Radiologic anthropometry of the hand in patients with familial short stature.

Cervantes CD, Lifshitz F, Levenbrown J.

Pediatr Radiol. 1988;18(3):210-4.

PMID:
3368245
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