Rimoin DL - Search Results

1

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.

Rossi A, Kaitila I, Wilcox WR, Rimoin DL, Steinmann B, Cetta G, Superti-Furga A. Rossi A, et al. Among authors: rimoin dl. Matrix Biol. 1998 Oct;17(5):361-9. doi: 10.1016/s0945-053x(98)90088-9. Matrix Biol. 1998. PMID: 9822202

2

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Among authors: rimoin dl. Am J Hum Genet. 1996 Feb;58(2):255-62. Am J Hum Genet. 1996. PMID: 8571951 Free PMC article.

3

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. Superti-Furga A, et al. Among authors: rimoin dl. Ann N Y Acad Sci. 1996 Jun 8;785:195-201. doi: 10.1111/j.1749-6632.1996.tb56259.x. Ann N Y Acad Sci. 1996. PMID: 8702127 Review. No abstract available.

4

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Among authors: rimoin dl. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. Nat Genet. 1996. PMID: 8528239 No abstract available.

5

Sulfate transport in chondrodysplasia.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Among authors: rimoin dl. Ann N Y Acad Sci. 1996 Jun 8;785:131-6. doi: 10.1111/j.1749-6632.1996.tb56251.x. Ann N Y Acad Sci. 1996. PMID: 8702119 Review. No abstract available.

6

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S. Hiraoka S, et al. Among authors: rimoin dl. Nat Med. 2007 Nov;13(11):1363-7. doi: 10.1038/nm1655. Epub 2007 Oct 21. Nat Med. 2007. PMID: 17952091

7

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.

Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR. Weis MA, et al. Among authors: rimoin dl. J Biol Chem. 1998 Feb 20;273(8):4761-8. doi: 10.1074/jbc.273.8.4761. J Biol Chem. 1998. PMID: 9468540 Free article.

8

Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.

Fernandes RJ, Wilkin DJ, Weis MA, Wilcox WR, Cohn DH, Rimoin DL, Eyre DR. Fernandes RJ, et al. Among authors: rimoin dl. Arch Biochem Biophys. 1998 Jul 15;355(2):282-90. doi: 10.1006/abbi.1998.0745. Arch Biochem Biophys. 1998. PMID: 9675039

9

Letter: Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia.

Kaitila I, Tanaka KR, Rimoin DL. Kaitila I, et al. Among authors: rimoin dl. J Pediatr. 1975 Jul;87(1):153-4. doi: 10.1016/s0022-3476(75)80105-3. J Pediatr. 1975. PMID: 1151542 No abstract available.

10

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

Cohn DH, Briggs MD, King LM, Rimoin DL, Wilcox WR, Lachman RS, Knowlton RG. Cohn DH, et al. Among authors: rimoin dl. Ann N Y Acad Sci. 1996 Jun 8;785:188-94. doi: 10.1111/j.1749-6632.1996.tb56258.x. Ann N Y Acad Sci. 1996. PMID: 8702126 Review. No abstract available.

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