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Items: 1 to 20 of 27

1.
2.

Diastrophic dysplasia: prenatal diagnosis and review of the literature.

Honório JC, Bruns RF, Gründtner LF, Raskin S, Ferrari LP, Araujo Júnior E, Nardozza LM.

Sao Paulo Med J. 2013;131(2):127-32. Review.

3.

Review of cervical spine anomalies in genetic syndromes.

McKay SD, Al-Omari A, Tomlinson LA, Dormans JP.

Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. Review.

PMID:
22045003
4.

Sulfate in fetal development.

Dawson PA.

Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Review.

PMID:
21419855
5.

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dwyer E, Hyland J, Modaff P, Pauli RM.

Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Review.

PMID:
21077202
6.

Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history.

Canto MJ, Buixeda M, Palau J, Ojeda F.

Prenat Diagn. 2007 Oct;27(10):976-8. Review. No abstract available.

PMID:
17602446
7.

Overview of the SLC26 family and associated diseases.

Kere J.

Novartis Found Symp. 2006;273:2-11; discussion 11-8, 261-4. Review.

PMID:
17120758
8.

Pathogenetics of the human SLC26 transporters.

Dawson PA, Markovich D.

Curr Med Chem. 2005;12(4):385-96. Review.

PMID:
15720248
9.

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.

Lachman RS, Krakow D, Cohn DH, Rimoin DL.

Pediatr Radiol. 2005 Feb;35(2):116-23. Epub 2004 Oct 21. Review.

PMID:
15503005
10.

Recessive omodysplasia: five new cases and review of the literature.

Elçioglu NH, Gustavson KH, Wilkie AO, Yüksel-Apak M, Spranger JW.

Pediatr Radiol. 2004 Jan;34(1):75-82. Epub 2003 Oct 18. Review.

PMID:
14566439
11.

Physiological roles and regulation of mammalian sulfate transporters.

Markovich D.

Physiol Rev. 2001 Oct;81(4):1499-533. Review.

12.

[Diastrophic dysplasia].

Yokoyama Y.

Ryoikibetsu Shokogun Shirizu. 2001;(33):560-1. Review. Japanese. No abstract available.

PMID:
11462569
13.

The genetic basis of the osteochondrodysplasias.

Baitner AC, Maurer SG, Gruen MB, Di Cesare PE.

J Pediatr Orthop. 2000 Sep-Oct;20(5):594-605. Review.

PMID:
11008738
14.

A family of mammalian anion transporters and their involvement in human genetic diseases.

Everett LA, Green ED.

Hum Mol Genet. 1999;8(10):1883-91. Review.

PMID:
10469841
15.

Atelosteogenesis type 2.

Newbury-Ecob R.

J Med Genet. 1998 Jan;35(1):49-53. Review.

16.

Atelosteogenesis syndromes: a review, with comments on their pathogenesis.

Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K.

Pediatr Radiol. 1997 May;27(5):388-96. Review.

PMID:
9133349
17.

Molecular genetic basis of the human chondrodysplasias.

Horton WA.

Endocrinol Metab Clin North Am. 1996 Sep;25(3):683-97. Review.

PMID:
8879993
18.

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

Superti-Furga A, Hästbacka J, Rossi A, van der Harten JJ, Wilcox WR, Cohn DH, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R.

Ann N Y Acad Sci. 1996 Jun 8;785:195-201. Review. No abstract available.

PMID:
8702127
19.

The prevalence of genetic disorders, birth defects and syndromes in central and eastern Kentucky.

Cadle RG, Dawson T, Hall BD.

J Ky Med Assoc. 1996 Jun;94(6):237-41. Review.

PMID:
8800012
20.

Bone dysplasias in man: molecular insights.

Francomano CA, McIntosh I, Wilkin DJ.

Curr Opin Genet Dev. 1996 Jun;6(3):301-8. Review.

PMID:
8791509

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