Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 87

1.

Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

Tanteles GA, Dixit A, Dhar S, Suri M.

Am J Med Genet A. 2013 Oct;161A(10):2588-93. doi: 10.1002/ajmg.a.36094. Epub 2013 Aug 5.

PMID:
23918704
2.

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.

3.

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
4.

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.

Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S.

Clin Genet. 2009 Apr;75(4):375-83. doi: 10.1111/j.1399-0004.2009.01167.x.

PMID:
19320654
5.

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM.

Clin Genet. 2016 Jul;90(1):90-5. doi: 10.1111/cge.12694. Epub 2015 Dec 21.

PMID:
26572954
6.

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
7.

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S.

Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60. Epub 2004 Jun 23.

8.

Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).

Searle C, Jewell R, Kraft J, Stoebe P, Chumas P, Titheradge H, Kraus A, Gencik M, Hobson E.

Clin Dysmorphol. 2014 Jan;23(1):12-5. doi: 10.1097/MCD.0000000000000021. No abstract available.

PMID:
24300290
9.

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR.

Am J Med Genet A. 2017 Jan;173(1):163-168. doi: 10.1002/ajmg.a.37996. Epub 2016 Oct 18.

PMID:
27753269
10.

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.

11.

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA.

Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30.

12.

Progressive pseudorheumatoid dysplasia: three cases in one family.

Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N.

Joint Bone Spine. 2007 Jul;74(4):393-5. Epub 2007 May 25.

PMID:
17596985
13.
14.

Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth.

van Buggenhout G, De Smet L, Maroteaux P, Fryns JP.

Genet Couns. 1998;9(4):277-81.

PMID:
9894165
15.

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A.

Am J Med Genet A. 2011 Nov;155A(11):2860-4. doi: 10.1002/ajmg.a.34268. Epub 2011 Sep 30.

PMID:
21964829
16.

A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.

Li S, Zhou H, Qin H, Guo H, Bai Y.

Joint Bone Spine. 2014 Jan;81(1):86-9. doi: 10.1016/j.jbspin.2013.06.010. Epub 2013 Aug 9.

PMID:
23932928
17.

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A.

Clin Genet. 2015 Mar;87(3):273-8. doi: 10.1111/cge.12371. Epub 2014 Apr 1.

PMID:
24598000
18.

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T.

BMC Musculoskelet Disord. 2010 Jun 3;11:110. doi: 10.1186/1471-2474-11-110.

19.

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).

Takahashi M, Matsui Y, Goto T, Nishimura G, Ikegawa S, Ohashi H, Yasui N.

Clin Rheumatol. 2006 Jul;25(4):591-5. Epub 2006 Jan 27.

PMID:
16440132
20.

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.

Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Newbury-Ecob RA, Gargan M, Hall CM, Houlston RS, Smithson SF.

Clin Dysmorphol. 2006 Oct;15(4):197-202.

PMID:
16957471

Supplemental Content

Support Center