-
1
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Antonarakis SE, the Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
2
-
-
0029848852
-
Update on nomenclature for human gene mutations
-
Beaudet AL, the Ad Hoc Committee on Mutation Nomenclature. 1996. Update on nomenclature for human gene mutations. Hum Mutat 8:197-202.
-
(1996)
Hum Mutat
, vol.8
, pp. 197-202
-
-
Beaudet, A.L.1
-
3
-
-
0342545408
-
UMD (universal mutation database): A generic software to build and analyse locus specific databases
-
Béroud C. 2000. UMD (universal mutation database): a generic software to build and analyse locus specific databases. Hum Mutat 15:86-94.
-
(2000)
Hum Mutat
, vol.15
, pp. 86-94
-
-
Béroud, C.1
-
4
-
-
0029797046
-
Mutation nomenclature: Nicknames, systematic names and unique identifiers
-
Beutler E, McKusick VA, Motulsky A, Scriver CR, Hutchinson F. 1996. Mutation nomenclature: nicknames, systematic names and unique identifiers. Hum Mutat 8:203-206.
-
(1996)
Hum Mutat
, vol.8
, pp. 203-206
-
-
Beutler, E.1
McKusick, V.A.2
Motulsky, A.3
Scriver, C.R.4
Hutchinson, F.5
-
5
-
-
0033621781
-
MuStaR and other software for locus-specific mutation databases
-
Brown AF, McKie MA. 2000. MuStaR and other software for locus-specific mutation databases. Hum Mutat 15:76-85.
-
(2000)
Hum Mutat
, vol.15
, pp. 76-85
-
-
Brown, A.F.1
McKie, M.A.2
-
6
-
-
0025364861
-
The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and prediction HUGo Mutation Database Initiative
-
Cooper DN, Krawczak M. 1990. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and prediction HUGO Mutation Database Initiative. Hum Genet 85:55-74.
-
(1990)
Hum Genet
, vol.85
, pp. 55-74
-
-
Cooper, D.N.1
Krawczak, M.2
-
9
-
-
0033988074
-
Quality control in the discovery, reporting, and recording of genomic variation
-
Cotton RGH, Horaitis O. 2000. Quality control in the discovery, reporting, and recording of genomic variation. Hum Mutat 15:16-21.
-
(2000)
Hum Mutat
, vol.15
, pp. 16-21
-
-
Cotton, R.G.H.1
Horaitis, O.2
-
10
-
-
0031744522
-
Proof of disease causing mutation
-
Cotton RGH, Scriver CR. 1998. Proof of disease causing mutation. Hum Mutat 12:1-3.
-
(1998)
Hum Mutat
, vol.12
, pp. 1-3
-
-
Cotton, R.G.H.1
Scriver, C.R.2
-
11
-
-
0033986101
-
Future vision of the GDB human genome database
-
Cuticchia AJ. 2000. Future vision of the GDB human genome database. Hum Mutat 15:62-67.
-
(2000)
Hum Mutat
, vol.15
, pp. 62-67
-
-
Cuticchia, A.J.1
-
12
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
13
-
-
0033985936
-
Online mendelian inheritance in man (OMIM)
-
Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. 2000. Online Mendelian Inheritance in Man (OMIM). Hum Mutat 15:57-61.
-
(2000)
Hum Mutat
, vol.15
, pp. 57-61
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.3
Valle, D.4
McKusick, V.A.5
-
14
-
-
1842337282
-
Gene mutations in human haemoglobin: The chemical difference between normal and sickle cell haemoglobin
-
Ingram VM. 1957. Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. Nature 180:326-328.
-
(1957)
Nature
, vol.180
, pp. 326-328
-
-
Ingram, V.M.1
-
15
-
-
0033985997
-
Ethical guideposts for allelic variation databases
-
Knoppers BM, Laberge CM. 2000. Ethical guideposts for allelic variation databases. Hum Mutat 15:30-35.
-
(2000)
Hum Mutat
, vol.15
, pp. 30-35
-
-
Knoppers, B.M.1
Laberge, C.M.2
-
16
-
-
0031092272
-
The gene mutation database
-
Krawczak M, Cooper DN. 1997. The gene mutation database. Trends Genet 13:121-122.
-
(1997)
Trends Genet
, vol.13
, pp. 121-122
-
-
Krawczak, M.1
Cooper, D.N.2
-
17
-
-
0033987778
-
Human gene mutation database - A biomedical information and research resource
-
Krawczak M, Cooper DN. 2000. Human Gene Mutation Database - a biomedical information and research resource. Hum Mutat 15:45-51.
-
(2000)
Hum Mutat
, vol.15
, pp. 45-51
-
-
Krawczak, M.1
Cooper, D.N.2
-
19
-
-
0343415066
-
Sequence variation database project at the European Bioinformatics Institute
-
Lehväslaiho H, Stupka E, Ashburner M. 2000. Sequence variation database project at the European Bioinformatics Institute. Hum Mutat 15:52-56.
-
(2000)
Hum Mutat
, vol.15
, pp. 52-56
-
-
Lehväslaiho, H.1
Stupka, E.2
Ashburner, M.3
-
20
-
-
0033987837
-
Coping with change: Intellectual property rights new legislation, and the Human Mutations Database Initiative
-
Maurer S. 2000. Coping with change: intellectual property rights new legislation, and the Human Mutations Database Initiative. Hum Mutat 15:22-29.
-
(2000)
Hum Mutat
, vol.15
, pp. 22-29
-
-
Maurer, S.1
-
22
-
-
0032950573
-
Keio mutation database for eye disease genes (KMeyeDB)
-
Minoshima S, Mitsuyama S, Ohno S, Kawamura T, Shimizu N. 1999. Keio mutation database for eye disease genes (KMeyeDB). Nucleic Acids Res 27:358-361.
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 358-361
-
-
Minoshima, S.1
Mitsuyama, S.2
Ohno, S.3
Kawamura, T.4
Shimizu, N.5
-
23
-
-
0033987969
-
Eye disorder database " KMeyeDB."
-
Minoshima S, Mitsuyama S, Ohno S, Kawamura T, Shimizu N. 2000. Eye disorder database " KMeyeDB." Hum Mutat 15:95-98.
-
(2000)
Hum Mutat
, vol.15
, pp. 95-98
-
-
Minoshima, S.1
Mitsuyama, S.2
Ohno, S.3
Kawamura, T.4
Shimizu, N.5
-
25
-
-
0032934746
-
Guidelines and recommendations for content, structure and deployment of mutation databases
-
Scriver CR, Nowacki PM, Lehväslaiho H. 1999. Guidelines and recommendations for content, structure and deployment of mutation databases. Hum Mutat 13:344-350.
-
(1999)
Hum Mutat
, vol.13
, pp. 344-350
-
-
Scriver, C.R.1
Nowacki, P.M.2
Lehväslaiho, H.3
-
26
-
-
0033986099
-
Guidelines and recommendations for content, structure, and deployment of mutation databases. II. Journey in progress
-
Scriver CR, Nowacki PM, Lehvaslaiho H, Working Group. 2000. Guidelines and recommendations for content, structure, and deployment of mutation databases. II. Journey in progress. Hum Mutat 15:13-15.
-
(2000)
Hum Mutat
, vol.15
, pp. 13-15
-
-
Scriver, C.R.1
Nowacki, P.M.2
Lehvaslaiho, H.3
-
27
-
-
0033989317
-
Use of molecular variation in the NCBi dbSNP database
-
Sherry ST, Ward M, Sirotkin K. 2000. Use of molecular variation in the NCBI dbSNP Database. Hum Mutat 15:68-75.
-
(2000)
Hum Mutat
, vol.15
, pp. 68-75
-
-
Sherry, S.T.1
Ward, M.2
Sirotkin, K.3
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