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Results: 16

1.

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F.

J Biol Chem. 1988 Jun 25;263(18):8561-4.

PMID:
2454224
[PubMed - indexed for MEDLINE]
Free Article
2.

Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B.

J Bone Joint Surg Am. 1999 Feb;81(2):225-38. Review.

PMID:
10073586
[PubMed - indexed for MEDLINE]
3.

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum.

O'Neill JP, Rogan PK, Cariello N, Nicklas JA.

Mutat Res. 1998 Nov;411(3):179-214. Review.

PMID:
9804951
[PubMed - indexed for MEDLINE]
4.

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Malfait F, Wenstrup RJ, De Paepe A.

Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Review.

PMID:
20847697
[PubMed - indexed for MEDLINE]
5.

Overview on AON design.

Aartsma-Rus A.

Methods Mol Biol. 2012;867:117-29. doi: 10.1007/978-1-61779-767-5_8. Review.

PMID:
22454058
[PubMed - indexed for MEDLINE]
6.

DNA diagnostics and exon skipping.

Srirangalingam U, Chew SL.

Methods Mol Biol. 2012;867:3-16. doi: 10.1007/978-1-61779-767-5_1. Review.

PMID:
22454051
[PubMed - indexed for MEDLINE]
7.

Learning how mutations in type I collagen genes cause connective tissue disease.

Kadler KE.

Int J Exp Pathol. 1993 Aug;74(4):319-23. Review. No abstract available.

PMID:
8398803
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Molecular basis of prolidase (peptidase D) deficiency.

Endo F, Matsuda I.

Mol Biol Med. 1991 Feb;8(1):117-27. Review.

PMID:
1943683
[PubMed - indexed for MEDLINE]
9.

Heritable diseases of collagen.

Prockop DJ, Kivirikko KI.

N Engl J Med. 1984 Aug 9;311(6):376-86. Review. No abstract available.

PMID:
6146097
[PubMed - indexed for MEDLINE]
10.

Exons--original building blocks of proteins?

Patthy L.

Bioessays. 1991 Apr;13(4):187-92. Review.

PMID:
1859398
[PubMed - indexed for MEDLINE]
11.

Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome.

Hoffman GS, Filie JD, Schumacher HR Jr, Ortiz-Bravo E, Tsokos MG, Marini JC, Kerr GS, Ling QH, Trentham DE.

Arthritis Rheum. 1991 Nov;34(11):1466-75. Review.

PMID:
1953824
[PubMed - indexed for MEDLINE]
12.

Phosphofructokinase deficiency: recent advances in molecular biology.

Nakajima H, Hamaguchi T, Yamasaki T, Tarui S.

Muscle Nerve Suppl. 1995;3:S28-34. Review.

PMID:
7603524
[PubMed - indexed for MEDLINE]
13.

Collagen in normal and abnormal tissues.

Gunson DE.

Equine Vet J. 1979 Apr;11(2):97-101. Review.

PMID:
383480
[PubMed - indexed for MEDLINE]
14.

Current topics in the biosynthesis, structure and function of collagen.

Bailey AJ, Robins SP.

Sci Prog. 1976 Autumn;63(251):419-44. Review. No abstract available.

PMID:
785598
[PubMed - indexed for MEDLINE]
15.

[Frasier syndrome].

Kohsaka T, Tagawa M, Koinuma S, Yamada M.

Nihon Rinsho. 2006 Jun 28;Suppl 2:499-504. Review. Japanese. No abstract available.

PMID:
16817451
[PubMed - indexed for MEDLINE]
16.

The family of collagen genes.

Vuorio E, de Crombrugghe B.

Annu Rev Biochem. 1990;59:837-72. Review. No abstract available.

PMID:
2197991
[PubMed - indexed for MEDLINE]

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