-
1
-
-
79959524146
-
A haplotype map of the human genome
-
The International HapMap Consortium
-
The International HapMap Consortium A haplotype map of the human genome. Nature 2005, 437(7063):1299-1319.
-
(2005)
Nature
, vol.437
, Issue.7063
, pp. 1299-1319
-
-
-
2
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., Ishikawa S., Fitch K.R., et al. Global variation in copy number in the human genome. Nature 2006, 444(7118):444-454.
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
3
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
The International HapMap Consortium
-
A second generation human haplotype map of over 3.1 million SNPs. Nature 2007, 449(7164):851-861. The International HapMap Consortium.
-
(2007)
Nature
, vol.449
, Issue.7164
, pp. 851-861
-
-
-
4
-
-
77956987332
-
-
Affymetrix, Inc
-
Affymetrix, Inc [http://www.affymetrix.com/index.affx].
-
-
-
-
5
-
-
77956987964
-
-
Illumina, Inc
-
Illumina, Inc [http://www.illumina.com].
-
-
-
-
6
-
-
67650257202
-
A fast modified protocol for random-access ultra-high density whole-genome scan: a tool for personalized genomic medicine, positional mapping, and cytogenetic analysis
-
Lau K.C., Mak C.M., Leung K.Y., Tsoi T.H., Tang H.Y., Lee P., Lam C.W. A fast modified protocol for random-access ultra-high density whole-genome scan: a tool for personalized genomic medicine, positional mapping, and cytogenetic analysis. Clin. Chim. Acta 2009, 406:31-35.
-
(2009)
Clin. Chim. Acta
, vol.406
, pp. 31-35
-
-
Lau, K.C.1
Mak, C.M.2
Leung, K.Y.3
Tsoi, T.H.4
Tang, H.Y.5
Lee, P.6
Lam, C.W.7
-
7
-
-
53749101271
-
Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals
-
Nishida N., Koike A., Tajima A., et al. Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals. BMC Genome 2008, 9:431.
-
(2008)
BMC Genome
, vol.9
, pp. 431
-
-
Nishida, N.1
Koike, A.2
Tajima, A.3
-
8
-
-
0037137519
-
A gene-expression signature as a predictor of survival in breast cancer
-
Van de Vijver M.J., He Y.D., van't Veer L.J., et al. A gene-expression signature as a predictor of survival in breast cancer. N. Engl. J. Med. 2002, 347:1999-2009.
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 1999-2009
-
-
Van de Vijver, M.J.1
He, Y.D.2
van't Veer, L.J.3
-
9
-
-
18244409687
-
Gene expression profiling predicts clinical outcome of breast cancer
-
Van't Veer L.J., Dai H.Y., van de Vijver M.J., et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature 2002, 415:530-536.
-
(2002)
Nature
, vol.415
, pp. 530-536
-
-
Van't Veer, L.J.1
Dai, H.Y.2
van de Vijver, M.J.3
-
10
-
-
33644962095
-
Genome-wide detection of allelic imbalance in renal cell carcinoma using high-density single-nucleotide polymorphism microarrays
-
Lam C.W., To K.F., Tong S.F. Genome-wide detection of allelic imbalance in renal cell carcinoma using high-density single-nucleotide polymorphism microarrays. Clin. Biochem. 2006, 39:187-190.
-
(2006)
Clin. Biochem.
, vol.39
, pp. 187-190
-
-
Lam, C.W.1
To, K.F.2
Tong, S.F.3
-
11
-
-
0027954044
-
Mutations of the VHL tumor suppressor gene in renal carcinoma
-
Gnarra J.R., Tory K., Weng Y., et al. Mutations of the VHL tumor suppressor gene in renal carcinoma. Nat. Genet. 1994, 7:85-90.
-
(1994)
Nat. Genet.
, vol.7
, pp. 85-90
-
-
Gnarra, J.R.1
Tory, K.2
Weng, Y.3
-
12
-
-
77951030512
-
Genome-based diagnosis of genetic disease
-
Lam C.W. Genome-based diagnosis of genetic disease. Indian J. Med. Res. 2010, 131:484-485.
-
(2010)
Indian J. Med. Res.
, vol.131
, pp. 484-485
-
-
Lam, C.W.1
-
13
-
-
0023130695
-
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
-
Kraemer K.H., Lee M.M., Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch. Dermatol. 1987, 123:241-250.
-
(1987)
Arch. Dermatol.
, vol.123
, pp. 241-250
-
-
Kraemer, K.H.1
Lee, M.M.2
Scotto, J.3
-
14
-
-
11944270642
-
DNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray
-
Lam C.W., Cheung K.K.T., Luk N.M., Chan S.W., Lo K.K., Tong S.F. DNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray. J. Invest. Dermatol. 2005, 124:87-91.
-
(2005)
J. Invest. Dermatol.
, vol.124
, pp. 87-91
-
-
Lam, C.W.1
Cheung, K.K.T.2
Luk, N.M.3
Chan, S.W.4
Lo, K.K.5
Tong, S.F.6
-
15
-
-
42949122558
-
UV damage and DNA repair in malignant melanoma and nonmelanoma skin cancer
-
Rass K., Reichrath J. UV damage and DNA repair in malignant melanoma and nonmelanoma skin cancer. Adv. Exp. Med. Biol. 2008, 624:162-178.
-
(2008)
Adv. Exp. Med. Biol.
, vol.624
, pp. 162-178
-
-
Rass, K.1
Reichrath, J.2
-
16
-
-
33845903823
-
DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity
-
Lam C.W., Tong S.F., Wong K., et al. DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity. J. Hum. Genet. 2007, 52:98-101.
-
(2007)
J. Hum. Genet.
, vol.52
, pp. 98-101
-
-
Lam, C.W.1
Tong, S.F.2
Wong, K.3
-
17
-
-
77957011860
-
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
-
Cleiren E., Benichou O., Van Hul E., et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Nature 2001, 415:287-294.
-
(2001)
Nature
, vol.415
, pp. 287-294
-
-
Cleiren, E.1
Benichou, O.2
Van Hul, E.3
-
18
-
-
0036353260
-
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography
-
Lam C.W., Li C.K., Lai C.K., Tong S.F., Chan K.Y., Ng G.S.F., Yuen Y.P., Cheng A.W.F., Chan Y.W. DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography. Mol. Genet. Metab. 2002, 75:91-95.
-
(2002)
Mol. Genet. Metab.
, vol.75
, pp. 91-95
-
-
Lam, C.W.1
Li, C.K.2
Lai, C.K.3
Tong, S.F.4
Chan, K.Y.5
Ng, G.S.F.6
Yuen, Y.P.7
Cheng, A.W.F.8
Chan, Y.W.9
-
19
-
-
37549012199
-
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity
-
Mak C.M., Lam C.W., Tam S., et al. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. J. Hum. Genet. 2008, 53:55-63.
-
(2008)
J. Hum. Genet.
, vol.53
, pp. 55-63
-
-
Mak, C.M.1
Lam, C.W.2
Tam, S.3
-
20
-
-
0024565588
-
Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor
-
Johnson J.L., Wuebbens M.M., Mandell R., Shih V.E. Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. J. Clin. Invest. 1989, 83:897-903.
-
(1989)
J. Clin. Invest.
, vol.83
, pp. 897-903
-
-
Johnson, J.L.1
Wuebbens, M.M.2
Mandell, R.3
Shih, V.E.4
-
21
-
-
33646562887
-
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
-
Chiang A.P., Beck J.S., Yen H.J., et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA 2006, 103:6287-6292.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 6287-6292
-
-
Chiang, A.P.1
Beck, J.S.2
Yen, H.J.3
-
22
-
-
0042060948
-
Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death
-
Lam C.W., Lai C.K., Chow C.B., Tong S.F., Yuen Y.P., Mak Y.F., Chan Y.W. Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death. Chin. Med. J. (Engl) 2003, 116:1110-1112.
-
(2003)
Chin. Med. J. (Engl)
, vol.116
, pp. 1110-1112
-
-
Lam, C.W.1
Lai, C.K.2
Chow, C.B.3
Tong, S.F.4
Yuen, Y.P.5
Mak, Y.F.6
Chan, Y.W.7
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