-
1
-
-
0141994858
-
Genomic microarrays in human genetic disease and cancer
-
Albertson DG, Pinkel D. 2003. Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12(Spec No 2):R145-R152.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SPEC. NO. 2
-
-
Albertson, D.G.1
Pinkel, D.2
-
2
-
-
0034650292
-
Measurement of locus copy number by hybridisation with amplifiable probes
-
Armour JA, Sismani C, Patsalis PC, Cross G. 2000. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 28:605-609.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 605-609
-
-
Armour, J.A.1
Sismani, C.2
Patsalis, P.C.3
Cross, G.4
-
3
-
-
19944418773
-
Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA
-
Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S. 2004. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 101:17765-17770.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 17765-17770
-
-
Barrett, M.T.1
Scheffer, A.2
Ben-Dor, A.3
Sampas, N.4
Lipson, D.5
Kincaid, R.6
Tsang, P.7
Curry, B.8
Baird, K.9
Meltzer, P.S.10
Yakhini, Z.11
Bruhn, L.12
Laderman, S.13
-
4
-
-
0032728004
-
FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
-
Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Bohm S, Balci S, Majewski F. 1999. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet 7:748-756.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 748-756
-
-
Bartsch, O.1
Wagner, A.2
Hinkel, G.K.3
Krebs, P.4
Stumm, M.5
Schmalenberger, B.6
Bohm, S.7
Balci, S.8
Majewski, F.9
-
5
-
-
0036024851
-
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
-
Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M. 2002. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 20:218-226.
-
(2002)
Hum Mutat
, vol.20
, pp. 218-226
-
-
Casilli, F.1
Di Rocco, Z.C.2
Gad, S.3
Tournier, I.4
Stoppa-Lyonnet, D.5
Frebourg, T.6
Tosi, M.7
-
6
-
-
0035136835
-
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
-
Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D. 2001. Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. J Med Genet 38:35-38.
-
(2001)
J Med Genet
, vol.38
, pp. 35-38
-
-
Coupry, I.1
Taine, L.2
Goizet, C.3
Soriano, C.4
Mortemousque, B.5
Arveiler, B.6
Lacombe, D.7
-
7
-
-
18444403425
-
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
-
Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. 2002. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet 39:415-421.
-
(2002)
J Med Genet
, vol.39
, pp. 415-421
-
-
Coupry, I.1
Roudaut, C.2
Stef, M.3
Delrue, M.A.4
Marche, M.5
Burgelin, I.6
Taine, L.7
Cruaud, C.8
Lacombe, D.9
Arveiler, B.10
-
8
-
-
1542409983
-
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR
-
Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. 2004. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat 23:278-284.
-
(2004)
Hum Mutat
, vol.23
, pp. 278-284
-
-
Coupry, I.1
Monnet, L.2
Attia, A.A.3
Taine, L.4
Lacombe, D.5
Arveiler, B.6
-
9
-
-
17644397384
-
Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome
-
Dhami P, Coffey AJ, Abbs S, Vermeesch JR, Dumanski JP, Woodward KJ, Andrews RM, Langford C, Vetrie D. 2005. Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 76:750-762.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 750-762
-
-
Dhami, P.1
Coffey, A.J.2
Abbs, S.3
Vermeesch, J.R.4
Dumanski, J.P.5
Woodward, K.J.6
Andrews, R.M.7
Langford, C.8
Vetrie, D.9
-
10
-
-
16544392761
-
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy
-
Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D, Arveiler B. 2004. Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy. Eur J Hum Genet 12:245-250.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 245-250
-
-
Goizet, C.1
Coupry, I.2
Rooryck, C.3
Taine, L.4
Dormoy, V.5
Lacombe, D.6
Arveiler, B.7
-
11
-
-
0036900267
-
Options available-from start to finish-for obtaining data from DNA microarrays II
-
Holloway AJ, van Laar RK, Tothill RW, Bowtell DD. 2002. Options available-from start to finish-for obtaining data from DNA microarrays II. Nat Genet 32(Suppl):481-489.
-
(2002)
Nat Genet
, vol.32
, Issue.SUPPL.
, pp. 481-489
-
-
Holloway, A.J.1
Van Laar, R.K.2
Tothill, R.W.3
Bowtell, D.D.4
-
12
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
13
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL. 2004. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303.
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
DeLeeuw, R.J.4
Chi, B.5
Coe, B.P.6
Snijders, A.7
Albertson, D.G.8
Pinkel, D.9
Marra, M.A.10
Ling, V.11
MacAulay, C.12
Lam, W.L.13
-
14
-
-
1442280674
-
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets
-
Mantripragada KK, Tapia-Paez I, Blennow E, Nilsson P, Wedell A, Dumanski JP. 2004. DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 13:273-279.
-
(2004)
Int J Mol Med
, vol.13
, pp. 273-279
-
-
Mantripragada, K.K.1
Tapia-Paez, I.2
Blennow, E.3
Nilsson, P.4
Wedell, A.5
Dumanski, J.P.6
-
15
-
-
21644480223
-
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
-
Niel F, Martin J, Dastot-Le Moal F, Costes B, Boissier B, Delattre V, Goossens M, Girodon E. 2004. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 41:e118.
-
(2004)
J Med Genet
, vol.41
-
-
Niel, F.1
Martin, J.2
Dastot-Le Moal, F.3
Costes, B.4
Boissier, B.5
Delattre, V.6
Goossens, M.7
Girodon, E.8
-
16
-
-
0029022770
-
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
-
Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, Bruening MH. 1995. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376:348-351.
-
(1995)
Nature
, vol.376
, pp. 348-351
-
-
Petrij, F.1
Giles, R.H.2
Dauwerse, H.G.3
Saris, J.J.4
Hennekam, R.C.5
Masuno, M.6
Tommerup, N.7
Van Ommen, G.J.8
Goodman, R.H.9
Peters, D.J.10
Bruening, M.H.11
-
17
-
-
20244366825
-
Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
-
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. 2000. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 37:168-176.
-
(2000)
J Med Genet
, vol.37
, pp. 168-176
-
-
Petrij, F.1
Dauwerse, H.G.2
Blough, R.I.3
Giles, R.H.4
Van Der Smagt, J.J.5
Wallerstein, R.6
Maaswinkel-Mooy, P.D.7
Van Karnebeek, C.D.8
Van Ommen, G.J.9
Van Haeringen, A.10
Rubinstein, J.H.11
Saal, H.M.12
Hennekam, R.C.13
Peters, D.J.14
Breuning, M.H.15
-
18
-
-
0001981478
-
Rubinstein-Taybi Syndrome
-
Scriver CR, Beaudet AL, Valle D, Sly WS, editors. Chapter 248
-
Petrij F, Giles RH, Breuning MH, Hennekam RC. 2001. Rubinstein-Taybi Syndrome. In: Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The metabolic and molecular bases of inherited disease (8th edition); Chapter 248, 6167-6182.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease (8th Edition)
, pp. 6167-6182
-
-
Petrij, F.1
Giles, R.H.2
Breuning, M.H.3
Hennekam, R.C.4
-
19
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG. 1998. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211.
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.L.8
Chen, C.9
Zhai, Y.10
Dairkee, S.H.11
Ljung, B.M.12
Gray, J.W.13
Albertson, D.G.14
-
21
-
-
0032823523
-
Genome-wide analysis of DNA copy-number changes using cDNA microarrays
-
Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO. 1999. Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 23:41-46.
-
(1999)
Nat Genet
, vol.23
, pp. 41-46
-
-
Pollack, J.R.1
Perou, C.M.2
Alizadeh, A.A.3
Eisen, M.B.4
Pergamenschikov, A.5
Williams, C.F.6
Jeffrey, S.S.7
Botstein, D.8
Brown, P.O.9
-
22
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. 2002. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
23
-
-
0034513406
-
Molecular mechanisms for constitutional chromosomal rearrangements in humans
-
Shaffer LG, Lupski JR. 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34:297-329.
-
(2000)
Annu Rev Genet
, vol.34
, pp. 297-329
-
-
Shaffer, L.G.1
Lupski, J.R.2
-
24
-
-
0030701970
-
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
-
Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P. 1997. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20:399-407.
-
(1997)
Genes Chromosomes Cancer
, vol.20
, pp. 399-407
-
-
Solinas-Toldo, S.1
Lampel, S.2
Stilgenbauer, S.3
Nickolenko, J.4
Benner, A.5
Dohner, H.6
Cremer, T.7
Lichter, P.8
-
25
-
-
0031801253
-
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome
-
Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Ayme S, Saura R, Arveiler B, Lacombe D. 1998. Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome. Am J Med Genet 78:267-270.
-
(1998)
Am J Med Genet
, vol.78
, pp. 267-270
-
-
Taine, L.1
Goizet, C.2
Wen, Z.Q.3
Petrij, F.4
Breuning, M.H.5
Ayme, S.6
Saura, R.7
Arveiler, B.8
Lacombe, D.9
|