-
1
-
-
0037903275
-
Human Gene Mutation Database (HGMD(R)): 2003 Update
-
Stenson, P. D., Ball, E. V., Mort, M. et al. 2003, Human Gene Mutation Database (HGMD(R)): 2003 update, Hum. Mutat., 21, 577-581.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
-
2
-
-
0035998736
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh, A., Scott, A. F., Amberger, J., Bocchini, C., Valle, D., and McKusick, V. A. 2002, Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders, Nucleic Acids Res., 30, 52-55.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 52-55
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.3
Bocchini, C.4
Valle, D.5
McKusick, V.A.6
-
3
-
-
0031867489
-
GDB: The Human Genome Database
-
Letovsky, S. I., Cottingham, R. W., Porter, C. J., and Li, P. W. 1998, GDB: the Human Genome Database, Nucleic Acids Res., 26, 94-99.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 94-99
-
-
Letovsky, S.I.1
Cottingham, R.W.2
Porter, C.J.3
Li, P.W.4
-
4
-
-
0028685657
-
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1
-
Nomura, N., Miyajima, N., Sazuka, T. et al. 1994, Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1, DNA Res., 1, 27-35.
-
(1994)
DNA Res.
, vol.1
, pp. 27-35
-
-
Nomura, N.1
Miyajima, N.2
Sazuka, T.3
-
5
-
-
0030915681
-
Positionally cloned human disease genes: Patterns of evolutionary conservation and functional motifs
-
Mushegian, A. R., Bassett, D. E., Jr., Boguski, M. S., Bork, P., and Koonin, E. V. 1997, Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs, Proc. Natl. Acad. Sci. USA, 94, 5831-5836.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 5831-5836
-
-
Mushegian, A.R.1
Bassett D.E., Jr.2
Boguski, M.S.3
Bork, P.4
Koonin, E.V.5
-
6
-
-
0027979480
-
The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm
-
Kraemer, D., Wozniak, R. W., Blobel, G., and Radu, A. 1994, The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm, Proc. Natl. Acad. Sci. USA, 91, 1519-1523.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 1519-1523
-
-
Kraemer, D.1
Wozniak, R.W.2
Blobel, G.3
Radu, A.4
-
7
-
-
0035136677
-
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome
-
Toh, K. L., Jones, C. R., He, Y. et al. 2001, An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome, Science, 291, 1040-1043.
-
(2001)
Science
, vol.291
, pp. 1040-1043
-
-
Toh, K.L.1
Jones, C.R.2
He, Y.3
-
8
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert, J. C., Berube, P., Mercier, J. et al. 2000, ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF, Nat. Genet., 24, 120-125.
-
(2000)
Nat. Genet.
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
Berube, P.2
Mercier, J.3
-
9
-
-
0035158639
-
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
-
Bolz, H., von Brederlow, B., Ramirez, A. et al. 2001, Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D, Nat. Genet., 27, 108-112.
-
(2001)
Nat. Genet.
, vol.27
, pp. 108-112
-
-
Bolz, H.1
Von Brederlow, B.2
Ramirez, A.3
-
10
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart, P., Caron, A., Guicheney, P. et al. 1998, A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy, Nat. Genet., 20, 92-95.
-
(1998)
Nat. Genet.
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
-
11
-
-
0035981222
-
Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins
-
Nagase, T., Kikuno, R., and Ohara, O. 2001, Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins, DNA Res., 8, 319-327.
-
(2001)
DNA Res.
, vol.8
, pp. 319-327
-
-
Nagase, T.1
Kikuno, R.2
Ohara, O.3
-
12
-
-
0036927813
-
Prediction of the coding sequences of mouse homologues of KIAA gene: I. The complete nucleotide sequences of 100 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries
-
Okazaki, N., Kikuno, R., Ohara, R. et al. 2002, Prediction of the coding sequences of mouse homologues of KIAA gene: I. The complete nucleotide sequences of 100 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries, DNA Res., 9, 179-188.
-
(2002)
DNA Res.
, vol.9
, pp. 179-188
-
-
Okazaki, N.1
Kikuno, R.2
Ohara, R.3
-
13
-
-
1542563409
-
Initial sequencing and comparative analysis of the mouse genome
-
Waterston, R. H., Lindblad-Toh, K., Birney, E. et al. 2002, Initial sequencing and comparative analysis of the mouse genome, Nature, 420, 520-562.
-
(2002)
Nature
, vol.420
, pp. 520-562
-
-
Waterston, R.H.1
Lindblad-Toh, K.2
Birney, E.3
-
14
-
-
0037255081
-
Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries
-
Okazaki, N., Kikuno, R., Ohara, R. et al. 2003, Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries, DNA Res., 10, 35-48.
-
(2003)
DNA Res.
, vol.10
, pp. 35-48
-
-
Okazaki, N.1
Kikuno, R.2
Ohara, R.3
-
15
-
-
0037673389
-
Human disease genes and their cloned mouse orthologs: Exploration of the FANTOM2 cDNA sequence data set
-
Schriml, L. M., Hill, D. P., Blake, J. A. et al. 2003, Human disease genes and their cloned mouse orthologs: exploration of the FANTOM2 cDNA sequence data set, Genome Res., 13, 1496-1500.
-
(2003)
Genome Res.
, vol.13
, pp. 1496-1500
-
-
Schriml, L.M.1
Hill, D.P.2
Blake, J.A.3
-
16
-
-
0033827835
-
The mammalian gene mutation database
-
Lewis, P. D., Harvey, J. S., Waters, E. M., and Parry, J. M. 2000, The mammalian gene mutation database, Mutagenesis, 15, 411-414.
-
(2000)
Mutagenesis
, vol.15
, pp. 411-414
-
-
Lewis, P.D.1
Harvey, J.S.2
Waters, E.M.3
Parry, J.M.4
-
17
-
-
0037245989
-
Online Mendelian Inheritance in Animals (OMIA): A comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animals
-
Nicholas, F. W. 2003, Online Mendelian Inheritance in Animals (OMIA): a comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animals, Nucleic Acids Res., 31, 275-277.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 275-277
-
-
Nicholas, F.W.1
-
18
-
-
0036923947
-
Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method
-
Ohara, O., Nagase, T., Mitsui, G. et al. 2002, Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method, DNA Res., 9, 47-57.
-
(2002)
DNA Res.
, vol.9
, pp. 47-57
-
-
Ohara, O.1
Nagase, T.2
Mitsui, G.3
-
19
-
-
0033615373
-
Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain
-
Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., and Ohara, O. 1999, Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain, DNA Res., 6, 329-336.
-
(1999)
DNA Res.
, vol.6
, pp. 329-336
-
-
Hirosawa, M.1
Nagase, T.2
Ishikawa, K.3
Kikuno, R.4
Nomura, N.5
Ohara, O.6
-
20
-
-
0033804557
-
Detection of spurious interruptions of protein-coding regions in cloned cDNA sequences by GeneMark analysis
-
Hirosawa, M., Ishikawa, K., Nagase, T., and Ohara, O. 2000, Detection of spurious interruptions of protein-coding regions in cloned cDNA sequences by GeneMark analysis, Genome Res., 10, 1333-1341.
-
(2000)
Genome Res.
, vol.10
, pp. 1333-1341
-
-
Hirosawa, M.1
Ishikawa, K.2
Nagase, T.3
Ohara, O.4
-
21
-
-
17844381297
-
High-throughput sequence identification of gene coding variants within alcohol-related QTLs
-
Ehringer, M. A., Thompson, J., Conroy, O. et al. 2001, High-throughput sequence identification of gene coding variants within alcohol-related QTLs, Mamm Genome, 12, 657-663.
-
(2001)
Mamm Genome
, vol.12
, pp. 657-663
-
-
Ehringer, M.A.1
Thompson, J.2
Conroy, O.3
-
22
-
-
0032483028
-
Evolutionary parameters of the transcribed mammalian genome: An analysis of 2,820 orthologous rodent and human sequences
-
Makalowski, W. and Boguski, M. S. 1998, Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequences, Proc. Natl. Acad. Sci. USA, 95, 9407-9412.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 9407-9412
-
-
Makalowski, W.1
Boguski, M.S.2
-
23
-
-
0037155162
-
Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor)
-
Okumura, M., Yamakawa, H., Ohara, O., and Owaribe, K. 2002, Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor), J. Biol. Chem., 277, 6682-6687.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 6682-6687
-
-
Okumura, M.1
Yamakawa, H.2
Ohara, O.3
Owaribe, K.4
-
24
-
-
0035921424
-
The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles
-
Leung, C. L., Zheng, M., Prater, S. M., and Liem, R. K. 2001, The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles, J. Cell Biol., 154, 691-697.
-
(2001)
J. Cell Biol.
, vol.154
, pp. 691-697
-
-
Leung, C.L.1
Zheng, M.2
Prater, S.M.3
Liem, R.K.4
-
25
-
-
0031732094
-
A computer program for aligning a cDNA sequence with a genomic DNA sequence
-
Florea, L., Hartzell, G., Zhang, Z., Rubin, G. M., and Miller, W. 1998, A computer program for aligning a cDNA sequence with a genomic DNA sequence, Genome Res., 8, 967-974.
-
(1998)
Genome Res.
, vol.8
, pp. 967-974
-
-
Florea, L.1
Hartzell, G.2
Zhang, Z.3
Rubin, G.M.4
Miller, W.5
-
26
-
-
0035824897
-
Increased myocardial Rab GTPase expression: A consequence and cause of cardiomyopathy
-
Wu, G., Yussman, M. G., Barrett, T. J. et al. 2001, Increased myocardial Rab GTPase expression: a consequence and cause of cardiomyopathy, Circ. Res., 89, 1130-1137.
-
(2001)
Circ. Res.
, vol.89
, pp. 1130-1137
-
-
Wu, G.1
Yussman, M.G.2
Barrett, T.J.3
-
27
-
-
0023142769
-
A novel c-abl protein product in Philadelphia-positive acute lymphoblastic leukaemia
-
Kurzrock, R., Shtalrid, M., Romero, P. et al. 1987, A novel c-abl protein product in Philadelphia-positive acute lymphoblastic leukaemia, Nature, 325, 631-635.
-
(1987)
Nature
, vol.325
, pp. 631-635
-
-
Kurzrock, R.1
Shtalrid, M.2
Romero, P.3
-
28
-
-
0036252276
-
Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1
-
Firestein, R., Nagy, P. L., Daly, M., Huie, P., Conti, M., and Cleary, M. L. 2002, Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1, J. Clin. Invest., 109, 1165-1172.
-
(2002)
J. Clin. Invest.
, vol.109
, pp. 1165-1172
-
-
Firestein, R.1
Nagy, P.L.2
Daly, M.3
Huie, P.4
Conti, M.5
Cleary, M.L.6
-
29
-
-
0027720285
-
Neu and its ligands: From an oncogene to neural factors
-
Peles, E. and Yarden, Y. 1993, Neu and its ligands: from an oncogene to neural factors, Bioessays, 15, 815-824.
-
(1993)
Bioessays
, vol.15
, pp. 815-824
-
-
Peles, E.1
Yarden, Y.2
-
30
-
-
0036637641
-
unc-53 controls longitudinal migration in C. elegans
-
Stringham, E., Pujol, N., Vandekerckhove, J., and Bogaert, T. 2002, unc-53 controls longitudinal migration in C. elegans, Development, 129, 3367-3379.
-
(2002)
Development
, vol.129
, pp. 3367-3379
-
-
Stringham, E.1
Pujol, N.2
Vandekerckhove, J.3
Bogaert, T.4
-
31
-
-
0035474311
-
The actin filament-associated protein AFAP-110 is an adaptor protein that modulates changes in actin filament integrity
-
Baisden, J. M., Qian, Y., Zot, H. M., and Flynn, D. C. 2001, The actin filament-associated protein AFAP-110 is an adaptor protein that modulates changes in actin filament integrity, Oncogene, 20, 6435-6447.
-
(2001)
Oncogene
, vol.20
, pp. 6435-6447
-
-
Baisden, J.M.1
Qian, Y.2
Zot, H.M.3
Flynn, D.C.4
-
32
-
-
0028969937
-
Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain
-
Becker, K. G., Nagle, J. W., Canning, R. D., Biddison, W. E., Ozato, K., and Drew, P. D. 1995, Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain, Hum. Mol. Genet., 4, 685-691.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 685-691
-
-
Becker, K.G.1
Nagle, J.W.2
Canning, R.D.3
Biddison, W.E.4
Ozato, K.5
Drew, P.D.6
-
33
-
-
0030007053
-
Zinc finger proteins in early Xenopus development
-
Hollemann, T., Bellefroid, E., Stick, R., and Pieler, T. 1996, Zinc finger proteins in early Xenopus development, Int. J. Dev. Biol., 40, 291-295.
-
(1996)
Int. J. Dev. Biol.
, vol.40
, pp. 291-295
-
-
Hollemann, T.1
Bellefroid, E.2
Stick, R.3
Pieler, T.4
-
34
-
-
0037197827
-
Oligo(dT) primer generates a high frequency of truncated cDNAs through internal poly(A) priming during reverse transcription
-
Nam, D. K., Lee, S., Zhou, G. et al. 2002, Oligo(dT) primer generates a high frequency of truncated cDNAs through internal poly(A) priming during reverse transcription, Proc. Natl. Acad. Sci. USA, 99, 6152-6156.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 6152-6156
-
-
Nam, D.K.1
Lee, S.2
Zhou, G.3
-
35
-
-
0032568596
-
Assessing sequence comparison methods with reliable structurally identified distant evolutionary relationships. PG-6073-8
-
Brenner, S. E., Chothia, C., and Hubbard, T. J. 1998, Assessing sequence comparison methods with reliable structurally identified distant evolutionary relationships. PG-6073-8, Proc. Natl. Acad. Sci. USA, 95, 6073-6078.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 6073-6078
-
-
Brenner, S.E.1
Chothia, C.2
Hubbard, T.J.3
-
36
-
-
0036932506
-
Construction of expression-ready cDNA clones for KIAA genes: Manual curation of 330 KIAA cDNA clones
-
Nakajima, D., Okazaki, N., Yamakawa, H., Kikuno, R., Ohara, O., and Nagase, T. 2002, Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones, DNA Res., 9, 99-106.
-
(2002)
DNA Res.
, vol.9
, pp. 99-106
-
-
Nakajima, D.1
Okazaki, N.2
Yamakawa, H.3
Kikuno, R.4
Ohara, O.5
Nagase, T.6
|