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Items: 1 to 20 of 97

1.

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.

2.

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
3.

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
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.

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.

6.

Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

Silveira C, Leal GF, Cavalcanti DP.

Am J Med Genet A. 2016 Nov;170(11):3043-3047. doi: 10.1002/ajmg.a.37858. Epub 2016 Aug 2. No abstract available.

PMID:
27481334
7.

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T.

J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31.

PMID:
27030147
8.

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.

Mizumoto S, Yamada S, Sugahara K.

Biomed Res Int. 2015;2015:861752. doi: 10.1155/2015/861752. Epub 2015 Oct 25. Review.

9.

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
10.

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.

11.

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH.

Am J Med Genet A. 2017 Sep;173(9):2415-2421. doi: 10.1002/ajmg.a.38349. Epub 2017 Jul 25.

PMID:
28742282
12.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A.

Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641.

PMID:
20830804
13.

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
14.

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2015 Jan;23(1):49-53. doi: 10.1038/ejhg.2014.60. Epub 2014 Apr 23.

15.

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
16.

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

Al-Jezawi NK, Ali BR, Al-Gazali L.

Am J Med Genet A. 2017 Apr 30. doi: 10.1002/ajmg.a.38244. [Epub ahead of print]

PMID:
28462984
17.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A.

Am J Hum Genet. 2008 Jun;82(6):1368-74. doi: 10.1016/j.ajhg.2008.05.006. Erratum in: Am J Hum Genet. 2008 Aug;83(2):293.

18.

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
19.

Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP.

Am J Med Genet A. 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482.

PMID:
18698629
20.

[Two siblings with bilateral congenital knee dislocations: case report].

Kubinec V, Polakovičová L, Kantarská D.

Acta Chir Orthop Traumatol Cech. 2015;82(2):161-6. Slovak.

PMID:
26317189

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