-
1
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill M., et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22 (1999) 231-238
-
(1999)
Nat. Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
-
2
-
-
0035865322
-
A map of human genome sequence variation containing 1,42 million single nucleotide polymorphisms
-
International SNP Map Working Group
-
Sachidanandam R., et al., International SNP Map Working Group. A map of human genome sequence variation containing 1,42 million single nucleotide polymorphisms. Nature 409 (2001) 928-933
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
Sachidanandam, R.1
-
3
-
-
0015593369
-
Polymorphism of human C-band heterochromatin. I. Frequency of variants
-
Craig-Holmes A.P., et al. Polymorphism of human C-band heterochromatin. I. Frequency of variants. Am. J. Hum. Genet. 25 (1973) 181-192
-
(1973)
Am. J. Hum. Genet.
, vol.25
, pp. 181-192
-
-
Craig-Holmes, A.P.1
-
4
-
-
0017072053
-
The segregation of C-band polymorphisms on chromosomes 1, 9 and 16
-
Carnevale A., et al. The segregation of C-band polymorphisms on chromosomes 1, 9 and 16. Am. J. Hum. Genet. 28 (1976) 412-416
-
(1976)
Am. J. Hum. Genet.
, vol.28
, pp. 412-416
-
-
Carnevale, A.1
-
5
-
-
0016228694
-
The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion
-
Ottolenghi S., et al. The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion. Nature 251 (1974) 389-392
-
(1974)
Nature
, vol.251
, pp. 389-392
-
-
Ottolenghi, S.1
-
6
-
-
0017257201
-
Autosomal chromosome disorders and variations
-
Miller O.J., and Breg W.R. Autosomal chromosome disorders and variations. N. Engl. J. Med. 294 (1976) 596-598
-
(1976)
N. Engl. J. Med.
, vol.294
, pp. 596-598
-
-
Miller, O.J.1
Breg, W.R.2
-
7
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J., et al. Large-scale copy number polymorphism in the human genome. Science 305 (2004) 525-528
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
-
8
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate A.J., et al. Detection of large-scale variation in the human genome. Nat. Genet. 36 (2004) 949-951
-
(2004)
Nat. Genet.
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
-
9
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll S.A., et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet. 40 (2008) 1166-1174
-
(2008)
Nat. Genet.
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
-
10
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander E.S., et al. Initial sequencing and analysis of the human genome. Nature 409 (2001) 860-921
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
-
11
-
-
0035895505
-
The sequence of the human genome
-
Venter J.C., et al. The sequence of the human genome. Science 291 (2001) 1304-1351
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
-
12
-
-
0343936161
-
Mongolism; a chromosomal disease (trisomy)
-
Lejeune J., et al. Mongolism; a chromosomal disease (trisomy). Bull. Acad Natl. Med. 143 (1959) 256-265
-
(1959)
Bull. Acad Natl. Med.
, vol.143
, pp. 256-265
-
-
Lejeune, J.1
-
13
-
-
0041386350
-
Polymorphically duplicated genes: their relevance to phenotypic variation in humans
-
Buckland P.R. Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Ann. Med. 35 (2003) 308-315
-
(2003)
Ann. Med.
, vol.35
, pp. 308-315
-
-
Buckland, P.R.1
-
14
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E., et al. Fine-scale structural variation of the human genome. Nat. Genet. 37 (2005) 727-732
-
(2005)
Nat. Genet.
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
-
15
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., et al. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
-
16
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp A.J., et al. Segmental duplications and copy-number variation in the human genome. Am. J. Hum. Genet. 77 (2005) 78-88
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
-
17
-
-
35948991932
-
Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies
-
Estivill X., and Armengol L. Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet. 3 (2007) e190
-
(2007)
PLoS Genet.
, vol.3
-
-
Estivill, X.1
Armengol, L.2
-
18
-
-
0242300619
-
α-Synuclein locus triplication causes Parkinson's disease
-
Singleton A.B., et al. α-Synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 841
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
-
19
-
-
33750579333
-
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
-
Sleegers K., et al. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 129 (2006) 2977-2983
-
(2006)
Brain
, vol.129
, pp. 2977-2983
-
-
Sleegers, K.1
-
20
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
-
Rovelet-Lecrux A., et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat. Genet. 38 (2006) 24-26
-
(2006)
Nat. Genet.
, vol.38
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
-
21
-
-
33749066060
-
Phenotype associated with APP duplication in five families
-
Cabrejo L., et al. Phenotype associated with APP duplication in five families. Brain 129 (2006) 2966-2976
-
(2006)
Brain
, vol.129
, pp. 2966-2976
-
-
Cabrejo, L.1
-
22
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
Gonzalez E., et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307 (2005) 1434-1440
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
-
23
-
-
39549091294
-
Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis
-
McKinney C., et al. Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann. Rheum. Dis. 67 (2008) 409-413
-
(2008)
Ann. Rheum. Dis.
, vol.67
, pp. 409-413
-
-
McKinney, C.1
-
24
-
-
49649110984
-
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
-
Shlien A., et al. Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc. Natl. Acad. Sci. U. S. A. 105 (2008) 11264-11269
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 11264-11269
-
-
Shlien, A.1
-
25
-
-
33746460198
-
Common and contrasting genomic profiles among the major human lung cancer subtypes
-
Tonon G., et al. Common and contrasting genomic profiles among the major human lung cancer subtypes. Cold Spring Harb. Symp. Quant. Biol. 70 (2005) 11-24
-
(2005)
Cold Spring Harb. Symp. Quant. Biol.
, vol.70
, pp. 11-24
-
-
Tonon, G.1
-
26
-
-
59449094654
-
Molecular characterization of breast cancer with high-resolution oligonucleotide comparative genomic hybridization array
-
Andre F., et al. Molecular characterization of breast cancer with high-resolution oligonucleotide comparative genomic hybridization array. Clin. Cancer Res. 15 (2009) 441-451
-
(2009)
Clin. Cancer Res.
, vol.15
, pp. 441-451
-
-
Andre, F.1
-
27
-
-
30944435397
-
Array CGH using whole genome amplification of fresh-frozen and formalin-fixed, paraffin-embedded tumor DNA
-
Little S.E., et al. Array CGH using whole genome amplification of fresh-frozen and formalin-fixed, paraffin-embedded tumor DNA. Genomics 87 (2006) 298-306
-
(2006)
Genomics
, vol.87
, pp. 298-306
-
-
Little, S.E.1
-
28
-
-
18744413535
-
Amplification of whole tumor genomes and gene-by-gene mapping of genomic aberrations from limited sources of fresh-frozen and paraffin-embedded DNA
-
Bredel M., et al. Amplification of whole tumor genomes and gene-by-gene mapping of genomic aberrations from limited sources of fresh-frozen and paraffin-embedded DNA. J. Mol. Diagn. 7 (2005) 171-182
-
(2005)
J. Mol. Diagn.
, vol.7
, pp. 171-182
-
-
Bredel, M.1
-
29
-
-
31444434447
-
A multiplex PCR predictor for aCGH success of FFPE samples
-
van Beers E.H., et al. A multiplex PCR predictor for aCGH success of FFPE samples. Br. J. Cancer 94 (2006) 333-337
-
(2006)
Br. J. Cancer
, vol.94
, pp. 333-337
-
-
van Beers, E.H.1
-
30
-
-
33744515852
-
Interrogation of genomes by molecular copy-number counting (MCC)
-
Daser A., et al. Interrogation of genomes by molecular copy-number counting (MCC). Nat. Methods 3 (2006) 447-453
-
(2006)
Nat. Methods
, vol.3
, pp. 447-453
-
-
Daser, A.1
-
31
-
-
55249121898
-
Microdissection molecular copy-number counting (microMCC) - unlocking cancer archives with digital PCR
-
McCaughan F., et al. Microdissection molecular copy-number counting (microMCC) - unlocking cancer archives with digital PCR. J. Pathol. 216 (2008) 307-316
-
(2008)
J. Pathol.
, vol.216
, pp. 307-316
-
-
McCaughan, F.1
-
32
-
-
67650671795
-
Mongol child-mosaic parent. Study of 2 families
-
Ferrier S. Mongol child-mosaic parent. Study of 2 families. J. Genet. Hum. 13 (1964) 315-336
-
(1964)
J. Genet. Hum.
, vol.13
, pp. 315-336
-
-
Ferrier, S.1
-
33
-
-
56649120573
-
The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl
-
Rittinger O., et al. The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl. Eur. J. Med. Genet. 51 (2008) 573-579
-
(2008)
Eur. J. Med. Genet.
, vol.51
, pp. 573-579
-
-
Rittinger, O.1
-
34
-
-
0344392982
-
Chromosome segregation defects contribute to aneuploidy in normal neural progenitor cells
-
Yang A.H., et al. Chromosome segregation defects contribute to aneuploidy in normal neural progenitor cells. J. Neurosci. 23 (2003) 10454-10462
-
(2003)
J. Neurosci.
, vol.23
, pp. 10454-10462
-
-
Yang, A.H.1
-
35
-
-
41149121141
-
Aneuploid mosaicism in the developing and adult cerebellar cortex
-
Westra J.W., et al. Aneuploid mosaicism in the developing and adult cerebellar cortex. J. Comp. Neurol. 507 (2008) 1944-1951
-
(2008)
J. Comp. Neurol.
, vol.507
, pp. 1944-1951
-
-
Westra, J.W.1
-
36
-
-
40849109768
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
-
Bruder C.E., et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am. J. Hum. Genet. 82 (2008) 763-771
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 763-771
-
-
Bruder, C.E.1
-
37
-
-
51549095601
-
Somatic mosaicism for copy number variation in differentiated human tissues
-
Piotrowski A., et al. Somatic mosaicism for copy number variation in differentiated human tissues. Hum. Mutat. 29 (2008) 1118-1124
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1118-1124
-
-
Piotrowski, A.1
-
38
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten J.P., et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30 (2002) e57
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
Schouten, J.P.1
|