-
1
-
-
84981834288
-
The chromosome numbers of man
-
Tjio HL, Levan A. The chromosome numbers of man. Hereditas 1956: 42: 1-6.
-
(1956)
Hereditas
, vol.42
, pp. 1-6
-
-
Tjio, H.L.1
Levan, A.2
-
2
-
-
0036788341
-
Human cytogenetics: 46 chromosomes, 46 years and counting
-
Trask BJ. Human cytogenetics: 46 chromosomes, 46 years and counting. Nat Rev Genet 2002: 3 (10): 769-778.
-
(2002)
Nat. Rev. Genet.
, vol.3
, Issue.10
, pp. 769-778
-
-
Trask, B.J.1
-
3
-
-
0014234658
-
Chemical differentiation along metaphase chromosomes
-
Caspersson T, Farber S, Foley GE et al. Chemical differentiation along metaphase chromosomes. Exp Cell Res 1968: 49 (1): 219-222.
-
(1968)
Exp. Cell Res.
, vol.49
, Issue.1
, pp. 219-222
-
-
Caspersson, T.1
Farber, S.2
Foley, G.E.3
-
4
-
-
0020416478
-
In situ hybridization of DNA sequences in human metaphase chromosomes visualized by an indirect fluorescent immunocytochemical procedure
-
Prooijen-Knegt AC, Van Hoek JF, Bauman JG, Van Duijn P, Wool IG, Van der PM. In situ hybridization of DNA sequences in human metaphase chromosomes visualized by an indirect fluorescent immunocytochemical procedure. Exp Cell Res 1982: 141 (2): 397-407.
-
(1982)
Exp. Cell Res.
, vol.141
, Issue.2
, pp. 397-407
-
-
Prooijen-Knegt, A.C.1
Van Hoek, J.F.2
Bauman, J.G.3
Van Duijn, P.4
Wool, I.G.5
Van der, P.M.6
-
5
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A, Kallioniemi OP, Sudar D et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992: 258 (5083): 818-821.
-
(1992)
Science
, vol.258
, Issue.5083
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
-
7
-
-
0038006205
-
Comparative genomic hybridisation as a supportive tool in diagnostic pathology
-
Weiss MM, Kuipers EJ, Meuwissen SG, van Diest PJ, Meijer GA. Comparative genomic hybridisation as a supportive tool in diagnostic pathology. J Clin Pathol 2003: 56 (7): 522-527.
-
(2003)
J. Clin. Pathol.
, vol.56
, Issue.7
, pp. 522-527
-
-
Weiss, M.M.1
Kuipers, E.J.2
Meuwissen, S.G.3
van Diest, P.J.4
Meijer, G.A.5
-
8
-
-
0037468931
-
Genomic profiling of gastric cancer predicts lymph node status and survival
-
Weiss MM, Kuipers EJ, Postma C et al. Genomic profiling of gastric cancer predicts lymph node status and survival. Oncogene 2003: 22 (12): 1872-1879.
-
(2003)
Oncogene
, vol.22
, Issue.12
, pp. 1872-1879
-
-
Weiss, M.M.1
Kuipers, E.J.2
Postma, C.3
-
9
-
-
0030787822
-
Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH)
-
Yu LC, Moore DH, Magrane G et al. Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH). Cytometry 1997: 28 (3): 191-197.
-
(1997)
Cytometry
, vol.28
, Issue.3
, pp. 191-197
-
-
Yu, L.C.1
Moore, D.H.2
Magrane, G.3
-
11
-
-
0028817026
-
Comparative genomic hybridization in clinical cytogenetics
-
Bryndorf T, Kirchhoff M, Rose H et al. Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet 1995: 57 (5): 1211-1220.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, Issue.5
, pp. 1211-1220
-
-
Bryndorf, T.1
Kirchhoff, M.2
Rose, H.3
-
12
-
-
0031791316
-
Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities
-
Lapierre JM, Cacheux V, Collot N et al. Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. Ann Genet 1998: 41 (3): 133-140.
-
(1998)
Ann. Genet.
, vol.41
, Issue.3
, pp. 133-140
-
-
Lapierre, J.M.1
Cacheux, V.2
Collot, N.3
-
13
-
-
0033974777
-
Analysis of uncultured amniocytes by comparative genomic hybridization: A prospective prenatal study
-
Lapierre JM, Cacheux V, Luton D et al. Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study. Prenat Diagn 2000: 20 (2): 123-131.
-
(2000)
Prenat. Diagn.
, vol.20
, Issue.2
, pp. 123-131
-
-
Lapierre, J.M.1
Cacheux, V.2
Luton, D.3
-
14
-
-
0034950501
-
Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome
-
Forster-Gibson CJ, Davies J, MacKenzie JJ, Harrison K. Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome. Clin Genet 2001: 59 (6): 438-443.
-
(2001)
Clin. Genet.
, vol.59
, Issue.6
, pp. 438-443
-
-
Forster-Gibson, C.J.1
Davies, J.2
MacKenzie, J.J.3
Harrison, K.4
-
15
-
-
0018137411
-
The Cri du Chat syndrome: Epidemiology, cytogenetics, and clinical features
-
Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978: 44 (3): 227-275.
-
(1978)
Hum. Genet.
, vol.44
, Issue.3
, pp. 227-275
-
-
Niebuhr, E.1
-
16
-
-
0020633044
-
Clinical heterogeneity in 80 home-reared children with Cri du Chat syndrome
-
Wilkins LE, Brown JA, Nance WE, Wolf B. Clinical heterogeneity in 80 home-reared children with Cri du Chat syndrome. J Pediatr 1983: 102 (4): 528-533.
-
(1983)
J. Pediatr.
, vol.102
, Issue.4
, pp. 528-533
-
-
Wilkins, L.E.1
Brown, J.A.2
Nance, W.E.3
Wolf, B.4
-
17
-
-
0032032471
-
Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals
-
Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 1998: 31 (3): 163-173.
-
(1998)
Cytometry
, vol.31
, Issue.3
, pp. 163-173
-
-
Kirchhoff, M.1
Gerdes, T.2
Rose, H.3
Maahr, J.4
Ottesen, A.M.5
Lundsteen, C.6
-
18
-
-
0037085682
-
Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (Cri du Chat)
-
Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB. Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (Cri du Chat). Am J Med Genet 2002: 108 (3): 192-197.
-
(2002)
Am. J. Med. Genet.
, vol.108
, Issue.3
, pp. 192-197
-
-
Levy, B.1
Dunn, T.M.2
Kern, J.H.3
Hirschhorn, K.4
Kardon, N.B.5
-
19
-
-
0027966172
-
Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors
-
Kallioniemi OP, Kallioniemi A, Piper J et al. Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 1994: 10 (4): 231-243.
-
(1994)
Genes Chromosomes Cancer
, vol.10
, Issue.4
, pp. 231-243
-
-
Kallioniemi, O.P.1
Kallioniemi, A.2
Piper, J.3
-
20
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight SJ, Lese CM, Precht KS et al. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000: 67 (2): 320-332.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, Issue.2
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
-
21
-
-
85012505683
-
Novel molecular cytogenetic techniques for identifying complex chromosomal rearrangements: Technology and applications in molecular medicine
-
McNeil N, Ried T. Novel molecular cytogenetic techniques for identifying complex chromosomal rearrangements: technology and applications in molecular medicine. Expert Rev Mol Med 2000: 2: 1-14.
-
(2000)
Expert Rev. Mol. Med.
, vol.2
, pp. 1-14
-
-
McNeil, N.1
Ried, T.2
-
22
-
-
0030848259
-
A t-statistic for objective interpretation of comparative genomic hybridization (CGH) profiles
-
Moore DH, Pallavicini M, Cher ML, Gray JW. A t-statistic for objective interpretation of comparative genomic hybridization (CGH) profiles. Cytometry 1997: 28 (3): 183-190.
-
(1997)
Cytometry
, vol.28
, Issue.3
, pp. 183-190
-
-
Moore, D.H.1
Pallavicini, M.2
Cher, M.L.3
Gray, J.W.4
-
23
-
-
0028934697
-
Quantitative analysis of comparative genomic hybridization
-
duManoir S, Schrock E, Bentz M et al. Quantitative analysis of comparative genomic hybridization. Cytometry 1995: 19 (1): 27-41.
-
(1995)
Cytometry
, vol.19
, Issue.1
, pp. 27-41
-
-
duManoir, S.1
Schrock, E.2
Bentz, M.3
-
24
-
-
0030763177
-
Genome screening by comparative genomic hybridization
-
Forozan F, Karhu R, Kononen J, Kallioniemi A, Kallioniemi OP. Genome screening by comparative genomic hybridization. Trends Genet 1997: 13 (10): 405-409.
-
(1997)
Trends Genet.
, vol.13
, Issue.10
, pp. 405-409
-
-
Forozan, F.1
Karhu, R.2
Kononen, J.3
Kallioniemi, A.4
Kallioniemi, O.P.5
-
25
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998: 20 (2): 207-211.
-
(1998)
Nat. Genet.
, vol.20
, Issue.2
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
-
26
-
-
0032823523
-
Genome-wide analysis of DNA copy-number changes using cDNA microarrays
-
Pollack JR, Perou CM, Alizadeh AA et al. Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 1999: 23 (1): 41-46.
-
(1999)
Nat. Genet.
, vol.23
, Issue.1
, pp. 41-46
-
-
Pollack, J.R.1
Perou, C.M.2
Alizadeh, A.A.3
-
27
-
-
0032708221
-
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region
-
Thomas NS, Browne CE, Oley C, Healey S, Crolla JA. Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. Hum Genet 1999: 105 (5): 384-387.
-
(1999)
Hum. Genet.
, vol.105
, Issue.5
, pp. 384-387
-
-
Thomas, N.S.1
Browne, C.E.2
Oley, C.3
Healey, S.4
Crolla, J.A.5
-
28
-
-
0344442913
-
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15
-
L'Hermine AC, Aboura A, Brisset S et al. Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15. Prenat Diagn 2003: 23 (11): 938-943.
-
(2003)
Prenat. Diagn.
, vol.23
, Issue.11
, pp. 938-943
-
-
L'Hermine, A.C.1
Aboura, A.2
Brisset, S.3
-
29
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers LE, de Vries BB, Osoegawa K et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003: 73 (6): 1261-1270.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.6
, pp. 1261-1270
-
-
Vissers, L.E.1
de Vries, B.B.2
Osoegawa, K.3
-
30
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004: 41 (4): 241-248.
-
(2004)
J. Med. Genet.
, vol.41
, Issue.4
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
-
31
-
-
10744221541
-
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
-
Yu W, Ballif BC, Kashork CD et al. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet 2003: 12 (17): 2145-2152.
-
(2003)
Hum. Mol. Genet.
, vol.12
, Issue.17
, pp. 2145-2152
-
-
Yu, W.1
Ballif, B.C.2
Kashork, C.D.3
-
32
-
-
1542721515
-
BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications
-
Locke DP, Segraves R, Nicholls RD et al. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J Med Genet 2004: 41 (3): 175-182.
-
(2004)
J. Med. Genet.
, vol.41
, Issue.3
, pp. 175-182
-
-
Locke, D.P.1
Segraves, R.2
Nicholls, R.D.3
-
33
-
-
0018589660
-
External ear malformations: Epidemiology, genetics, and natural history
-
Melnick M, Myrianthopoulos NC, Paul NW. External ear malformations: epidemiology, genetics, and natural history. Birth Defects Orig Artic Ser 1979: 15 (9): 1-140.
-
(1979)
Birth Defects Orig. Artic. Ser.
, vol.15
, Issue.9
, pp. 1-140
-
-
Melnick, M.1
Myrianthopoulos, N.C.2
Paul, N.W.3
-
34
-
-
0027422825
-
Molecular analysis of the 18q-syndrome - And correlation with phenotype
-
Kline AD, White ME, Wapner R et al. Molecular analysis of the 18q-syndrome - and correlation with phenotype. Am J Hum Genet 1993: 52 (5): 895-906.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, Issue.5
, pp. 895-906
-
-
Kline, A.D.1
White, M.E.2
Wapner, R.3
-
35
-
-
0037677609
-
Definition of a critical region on chromosome 18 for congenital aural atresia by array CGH
-
Veltman JA, Jonkers Y, Nuijten I et al. Definition of a critical region on chromosome 18 for congenital aural atresia by array CGH. Am J Hum Genet 2003: 72 (6): 1578-1584.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, Issue.6
, pp. 1578-1584
-
-
Veltman, J.A.1
Jonkers, Y.2
Nuijten, I.3
-
36
-
-
0036605189
-
Additional patient with del (12) (q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome?
-
Rauen KA, Albertson DG, Pinkel D, Cotter PD. Additional patient with del (12) (q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? Am J Med Genet 2002: 110 (1): 51-56.
-
(2002)
Am. J. Med. Genet.
, vol.110
, Issue.1
, pp. 51-56
-
-
Rauen, K.A.1
Albertson, D.G.2
Pinkel, D.3
Cotter, P.D.4
-
37
-
-
0023204436
-
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
-
Rouleau GA, Wertelecki W, Haines JL et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987: 329 (6136): 246-248.
-
(1987)
Nature
, vol.329
, Issue.6136
, pp. 246-248
-
-
Rouleau, G.A.1
Wertelecki, W.2
Haines, J.L.3
-
38
-
-
0027245423
-
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
-
Rouleau GA, Merel P, Lutchman M et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993: 363 (6429): 515-521.
-
(1993)
Nature
, vol.363
, Issue.6429
, pp. 515-521
-
-
Rouleau, G.A.1
Merel, P.2
Lutchman, M.3
-
39
-
-
19244362433
-
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
-
Ruttledge MH, Andermann AA, Phelan CM et al. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996: 59 (2): 331-342.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, Issue.2
, pp. 331-342
-
-
Ruttledge, M.H.1
Andermann, A.A.2
Phelan, C.M.3
-
40
-
-
0031799509
-
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations
-
Evans DG, Trueman L, Wallace A, Collins S, Strachan T. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet 1998: 35 (6): 450-455.
-
(1998)
J. Med. Genet.
, vol.35
, Issue.6
, pp. 450-455
-
-
Evans, D.G.1
Trueman, L.2
Wallace, A.3
Collins, S.4
Strachan, T.5
-
41
-
-
0027963492
-
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals
-
Bourn D, Carter SA, Evans DG, Goodship J, Coakham H, Strachan T. A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 1994: 55 (1): 69-73.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, Issue.1
, pp. 69-73
-
-
Bourn, D.1
Carter, S.A.2
Evans, D.G.3
Goodship, J.4
Coakham, H.5
Strachan, T.6
-
42
-
-
0030012984
-
Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations
-
Mautner VF, Baser ME, Kluwe L. Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations. Hum Genet 1996: 98 (2): 203-206.
-
(1996)
Hum. Genet.
, vol.98
, Issue.2
, pp. 203-206
-
-
Mautner, V.F.1
Baser, M.E.2
Kluwe, L.3
-
43
-
-
0035252636
-
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
-
Bruder CE, Hirvela C, Tapia-Paez I et al. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 2001: 10 (3): 271-282.
-
(2001)
Hum. Mol. Genet.
, vol.10
, Issue.3
, pp. 271-282
-
-
Bruder, C.E.1
Hirvela, C.2
Tapia-Paez, I.3
-
44
-
-
2942700147
-
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p
-
Shaw CJ, Stankiewicz P, Bien-Willner G et al. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet 2004: 115 (1): 1-7.
-
(2004)
Hum. Genet.
, vol.115
, Issue.1
, pp. 1-7
-
-
Shaw, C.J.1
Stankiewicz, P.2
Bien-Willner, G.3
-
45
-
-
18344379676
-
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization
-
Veltman JA, Schoenmakers EF, Eussen BH et al. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 2002: 70 (5): 1269-1276.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, Issue.5
, pp. 1269-1276
-
-
Veltman, J.A.1
Schoenmakers, E.F.2
Eussen, B.H.3
-
46
-
-
0037672295
-
Determination of amplicon boundaries at 20q13.2 in tissue samples of human gastric adenocarcinomas by high-resolution microarray comparative genomic hybridization
-
Weiss MM, Snijders AM, Kuipers EJ et al. Determination of amplicon boundaries at 20q13.2 in tissue samples of human gastric adenocarcinomas by high-resolution microarray comparative genomic hybridization. J Pathol 2003: 200 (3): 320-326.
-
(2003)
J. Pathol.
, vol.200
, Issue.3
, pp. 320-326
-
-
Weiss, M.M.1
Snijders, A.M.2
Kuipers, E.J.3
-
47
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
-
Fiegler H, Carr P, Douglas EJ et al. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 2003: 36 (4): 361-374.
-
(2003)
Genes Chromosomes Cancer
, vol.36
, Issue.4
, pp. 361-374
-
-
Fiegler, H.1
Carr, P.2
Douglas, E.J.3
-
48
-
-
2642556276
-
High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides
-
Carvalho B, Ouwerkerk E, Meijer GA, Ylstra B. High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides. J Clin Pathol 2004: 57 (6): 644-646.
-
(2004)
J. Clin. Pathol.
, vol.57
, Issue.6
, pp. 644-646
-
-
Carvalho, B.1
Ouwerkerk, E.2
Meijer, G.A.3
Ylstra, B.4
-
49
-
-
18144445946
-
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
-
Buckley PG, Mantripragada KK, Benetkiewicz M et al. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet 2002: 11 (25): 3221-3229.
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.25
, pp. 3221-3229
-
-
Buckley, P.G.1
Mantripragada, K.K.2
Benetkiewicz, M.3
-
50
-
-
0141994858
-
Genomic microarrays in human genetic disease and cancer
-
Spec 2
-
Albertson DG, Pinkel D. Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 2003: 12 (Spec 2): R145-R152.
-
(2003)
Hum. Mol. Genet.
, vol.12
-
-
Albertson, D.G.1
Pinkel, D.2
-
51
-
-
10744231297
-
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features
-
Pescucci C, Meloni I, Bruttini M et al. Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features. Clin Genet 2003: 64: 497-501.
-
(2003)
Clin. Genet.
, vol.64
, pp. 497-501
-
-
Pescucci, C.1
Meloni, I.2
Bruttini, M.3
-
52
-
-
0036954508
-
Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro) FISH
-
de Pater JM, Ippel PF, van Dam WM, Loneus WH, Engelen JJM. Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro) FISH. Clin Genet 2002: 62: 482-487.
-
(2002)
Clin. Genet.
, vol.62
, pp. 482-487
-
-
de Pater, J.M.1
Ippel, P.F.2
van Dam, W.M.3
Loneus, W.H.4
Engelen, J.J.M.5
-
53
-
-
0036524140
-
A familial cryptic subtelomeric deletion 12p with variable phenotypic effect
-
Baker E, Hinton L, Callen DF, Haan EA, Dobbie A, Sutherland GR. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet 2002: 61 (3): 198-201.
-
(2002)
Clin. Genet.
, vol.61
, Issue.3
, pp. 198-201
-
-
Baker, E.1
Hinton, L.2
Callen, D.F.3
Haan, E.A.4
Dobbie, A.5
Sutherland, G.R.6
-
54
-
-
1642514697
-
Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features
-
Rodriguez-Revenga L, Badenas C, Sánchez A et al. Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features. Clin Genet 2004: 65: 17-23.
-
(2004)
Clin. Genet.
, vol.65
, pp. 17-23
-
-
Rodriguez-Revenga, L.1
Badenas, C.2
Sánchez, A.3
-
55
-
-
0029858527
-
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2
-
Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. Am J Med Genet 1996: 65 (2): 101-103.
-
(1996)
Am. J. Med. Genet.
, vol.65
, Issue.2
, pp. 101-103
-
-
Li, M.1
Zackai, E.H.2
Niikawa, N.3
Kaplan, P.4
Driscoll, D.A.5
-
56
-
-
0032848882
-
Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41
-
Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. Am J Med Genet 1999: 86 (3): 285-288.
-
(1999)
Am. J. Med. Genet.
, vol.86
, Issue.3
, pp. 285-288
-
-
Makita, Y.1
Yamada, K.2
Miyamoto, A.3
Okuno, A.4
Niikawa, N.5
-
57
-
-
0027942608
-
Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4
-
Fryns JP, Van den BH, Schrander-Stumpel C. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. Am J Med Genet 1994: 53 (2): 204-205.
-
(1994)
Am. J. Med. Genet.
, vol.53
, Issue.2
, pp. 204-205
-
-
Fryns, J.P.1
Van den, B.H.2
Schrander-Stumpel, C.3
-
58
-
-
0344308337
-
Unmasking Kabuki syndrome: Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
-
Milunsky JM, Huang XL. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 2003: 64: 509-516.
-
(2003)
Clin. Genet.
, vol.64
, pp. 509-516
-
-
Milunsky, J.M.1
Huang, X.L.2
-
59
-
-
9444293151
-
CGH microarrays for detecting DNA copy number changes
-
(Fuchs and Poddam, ed.). New York: Marcel Dekker, in press
-
Carvalho B, Weiss MM, Ylstra B, Meijer GA. CGH microarrays for detecting DNA copy number changes. In: Encyclopedia of diagnostic genomics and proteomics (Fuchs and Poddam, ed.). New York: Marcel Dekker, in press.
-
Encyclopedia of Diagnostic Genomics and Proteomics
-
-
Carvalho, B.1
Weiss, M.M.2
Ylstra, B.3
Meijer, G.A.4
-
60
-
-
0036180003
-
Fully automatic quantification of microarray image data
-
Jain AN, Tokuyasu TA, Snijders AM, Segraves R, Albertson DG, Pinkel D. Fully automatic quantification of microarray image data. Genome Res 2002: 12 (2): 325-332.
-
(2002)
Genome Res.
, vol.12
, Issue.2
, pp. 325-332
-
-
Jain, A.N.1
Tokuyasu, T.A.2
Snijders, A.M.3
Segraves, R.4
Albertson, D.G.5
Pinkel, D.6
-
61
-
-
2942511488
-
SeeGH - A software tool for visualization of whole genome array comparative genomic hybridization data
-
Chi B, DeLeeuw RJ, Coe BP, MacAulay C, Lam WL. SeeGH - a software tool for visualization of whole genome array comparative genomic hybridization data. BMC Bioinformatics 2004: 5 (1): 13.
-
(2004)
BMC Bioinformatics
, vol.5
, Issue.1
, pp. 13
-
-
Chi, B.1
DeLeeuw, R.J.2
Coe, B.P.3
MacAulay, C.4
Lam, W.L.5
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