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Items: 1 to 20 of 182

1.

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

Antonarakis SE.

Hum Mutat. 1998;11(1):1-3. No abstract available.

PMID:
9450896
2.

[Guidelines for human gene nomenclature].

Wojcik F.

Ann Biol Clin (Paris). 2002 May-Jun;60(3):347-50. French.

3.

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

den Dunnen JT, Antonarakis SE.

Hum Mutat. 2000;15(1):7-12. Erratum in: Hum Mutat 2002 Nov;20(5):403.

PMID:
10612815
4.

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L, Abifadel M, Allard D, Rabès JP, Thiart R, Kotze MJ, Béroud C, Junien C, Boileau C, Varret M.

Hum Mutat. 2002 Aug;20(2):81-7. Review.

PMID:
12124988
5.

Nomenclature for the description of human sequence variations.

den Dunnen JT, Antonarakis SE.

Hum Genet. 2001 Jul;109(1):121-4.

PMID:
11479744
6.

Nomenclature for human DPYD alleles.

McLeod HL, Collie-Duguid ES, Vreken P, Johnson MR, Wei X, Sapone A, Diasio RB, Fernandez-Salguero P, van Kuilenberg AB, van Gennip AH, Gonzalez FJ.

Pharmacogenetics. 1998 Dec;8(6):455-9.

PMID:
9918128
7.

A nomenclature system for metabolic gene polymorphisms.

Garte S, Crosti F.

IARC Sci Publ. 1999;(148):5-12. Review.

PMID:
10493244
8.

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.

Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR.

Hum Mutat. 2005 May;25(5):429-34.

PMID:
15832313
9.
10.
11.

ACTBP2-nomenclature recommendations of GEDNAP.

Schneider HR, Rand S, Schmitter H, Weichhold G.

Int J Legal Med. 1998;111(2):97-100.

PMID:
9541860
12.

Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.

Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM, Nebert DW.

Pharmacogenetics. 2004 Jan;14(1):1-18. Review.

PMID:
15128046
13.

Nomenclature for congenital and paediatric cardiac disease: historical perspectives and The International Pediatric and Congenital Cardiac Code.

Franklin RC, Jacobs JP, Krogmann ON, Béland MJ, Aiello VD, Colan SD, Elliott MJ, William Gaynor J, Kurosawa H, Maruszewski B, Stellin G, Tchervenkov CI, Walters Iii HL, Weinberg P, Anderson RH.

Cardiol Young. 2008 Dec;18 Suppl 2:70-80. doi: 10.1017/S1047951108002795.

PMID:
19063777
14.

Proposed standard nomenclature for the alpha- and beta-globin gene families.

Aguileta G, Bielawski JP, Yang Z.

Genes Genet Syst. 2006 Oct;81(5):367-71.

15.

Genew: the Human Gene Nomenclature Database, 2004 updates.

Wain HM, Lush MJ, Ducluzeau F, Khodiyar VK, Povey S.

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D255-7.

16.

Human cytochrome P450 (CYP) genes: recommendations for the nomenclature of alleles.

Ingelman-Sundberg M, Daly AK, Oscarson M, Nebert DW.

Pharmacogenetics. 2000 Feb;10(1):91-3. No abstract available.

PMID:
10739177
17.

Rules and guidelines for mouse gene, allele, and mutation nomenclature: a condensed version.

Maltais LJ, Blake JA, Chu T, Lutz CM, Eppig JT, Jackson I.

Genomics. 2002 Apr;79(4):471-4. No abstract available.

PMID:
11944975
18.
19.

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor.

Goodeve AC, Eikenboom JC, Ginsburg D, Hilbert L, Mazurier C, Peake IR, Sadler JE, Rodeghiero F; ISTH SSC Subcommittee on von Willebrand factor.

Thromb Haemost. 2001 May;85(5):929-31.

PMID:
11372690
20.

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms.

Goodeve A, Peake I.

Best Pract Res Clin Haematol. 2001 Jun;14(2):235-40.

PMID:
11686097

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