-
1
-
-
0005224657
-
-
Mcgraw-Hill Higher Education, NY, USA
-
Lewis R. Human Genetics. Mcgraw-Hill Higher Education, NY, USA (2011
-
(2011)
Human Genetics
-
-
Lewis, R.1
-
2
-
-
84860570409
-
Next-generation sequencing: Ready for the clinics?
-
Desai AN, Jere A. Next-generation sequencing: ready for the clinics? Clin. Genet. 81(6), 503-510 (2012
-
(2012)
Clin. Genet.
, vol.81
, Issue.6
, pp. 503-510
-
-
Desai, A.N.1
Jere, A.2
-
3
-
-
77950847453
-
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
-
Ahn JW, Mann K, Walsh S et al. Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Mol. Cytogenet. 3, 9 (2010
-
(2010)
Mol. Cytogenet.
, vol.3
, Issue.9
-
-
Ahn, J.W.1
Mann, K.2
Walsh, S.3
-
4
-
-
84868372148
-
Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion
-
Gao J, Liu C, Yao F et al. Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion. Mol. Cytogenet. 5(1), 33 (2012
-
(2012)
Mol. Cytogenet.
, vol.5
, Issue.1
, pp. 33
-
-
Gao, J.1
Liu, C.2
Yao, F.3
-
5
-
-
77349112962
-
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
-
Kumar RA, Sudi J, Babatz TD et al. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J. Med. Genet. 47(2), 81-90 (2010
-
(2010)
J. Med. Genet.
, vol.47
, Issue.2
, pp. 81-90
-
-
Kumar, R.A.1
Sudi, J.2
Babatz, T.D.3
-
6
-
-
84862812244
-
Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism
-
Chen CP, Huang HK, Su YN et al. Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism. Taiwan J. Obstet. Gynecol. 51(1), 77-82 (2012
-
(2012)
Taiwan J. Obstet. Gynecol.
, vol.51
, Issue.1
, pp. 77-82
-
-
Chen, C.P.1
Huang, H.K.2
Su, Y.N.3
-
7
-
-
0038361337
-
Demystifying chromosome preparation and the implications for the concept of chromosome condensation during mitosis
-
Claussen U, Michel S, Muhlig P et al. Demystifying chromosome preparation and the implications for the concept of chromosome condensation during mitosis. Cytogenet. Genome Res. 98(2-3), 136-146 (2002
-
(2002)
Cytogenet. Genome Res.
, vol.98
, Issue.2-3
, pp. 136-146
-
-
Claussen, U.1
Michel, S.2
Muhlig, P.3
-
8
-
-
0031299495
-
Emerging molecular cytogenetic technologies
-
Chang SS, Mark HF. Emerging molecular cytogenetic technologies. Cytobios 90(360), 7-22 (1997
-
(1997)
Cytobios
, vol.90
, Issue.360
, pp. 7-22
-
-
Chang, S.S.1
Mark, H.F.2
-
9
-
-
1642555930
-
Multicolor FISH probe sets and their applications
-
Liehr T, Starke H, Weise A, Lehrer H, Claussen U. Multicolor FISH probe sets and their applications. Histol. Histopathol. 19(1), 229-237 (2004
-
(2004)
Histol. Histopathol.
, vol.19
, Issue.1
, pp. 229-237
-
-
Liehr, T.1
Starke, H.2
Weise, A.3
Lehrer, H.4
Claussen, U.5
-
10
-
-
0024571647
-
Three-color fluorescence in situ hybridization for the simultaneous detection of multiple nucleic acid sequences
-
Nederlof PM, Robinson D, Abuknesha R et al. Three-color fluorescence in situ hybridization for the simultaneous detection of multiple nucleic acid sequences. Cytometry 10(1), 20-27 (1989
-
(1989)
Cytometry
, vol.10
, Issue.1
, pp. 20-27
-
-
Nederlof, P.M.1
Robinson, D.2
Abuknesha, R.3
-
11
-
-
0029912473
-
Karyotyping human chromosomes by combinatorial multi-fluor FISH
-
Speicher MR, Gwyn Ballard S, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat. Genet. 12(4), 368-375 (1996
-
(1996)
Nat. Genet.
, vol.12
, Issue.4
, pp. 368-375
-
-
Speicher, M.R.1
Gwyn Ballard, S.2
Ward, D.C.3
-
12
-
-
0038214755
-
Multicolor spectral karyotyping of human chromosomes
-
Schrock E, du Manoir S, Veldman T et al. Multicolor spectral karyotyping of human chromosomes. Science 273(5274), 494-497 (1996
-
(1996)
Science
, vol.273
, Issue.5274
, pp. 494-497
-
-
Schrock, E.1
Du Manoir, S.2
Veldman, T.3
-
13
-
-
0036080006
-
FISH banding methods: Applications in research and diagnostics
-
Liehr T, Heller A, Starke H, Claussen U. FISH banding methods: applications in research and diagnostics. Expert Rev. Mol. Diagn. 2(3), 217-225 (2002
-
(2002)
Expert Rev. Mol. Diagn.
, vol.2
, Issue.3
, pp. 217-225
-
-
Liehr, T.1
Heller, A.2
Starke, H.3
Claussen, U.4
-
14
-
-
0033053010
-
High resolution multicolor-banding: A new technique for refined FISH analysis of human chromosomes
-
Chudoba I, Plesch A, Lorch T, Lemke J, Claussen U, Senger G. High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes. Cytogenet. Cell Genet. 84(3-4), 156-160 (1999
-
(1999)
Cytogenet. Cell Genet.
, vol.84
, Issue.3-4
, pp. 156-160
-
-
Chudoba, I.1
Plesch, A.2
Lorch, T.3
Lemke, J.4
Claussen, U.5
Senger, G.6
-
15
-
-
1542475309
-
Multitude multicolor chromosome banding (mMCB) - A comprehensive one-step multicolor FISH banding method
-
Weise A, Heller A, Starke H et al. Multitude multicolor chromosome banding (mMCB) - a comprehensive one-step multicolor FISH banding method. Cytogenet. Genome Res. 103(1-2), 34-39 (2003
-
(2003)
Cytogenet. Genome Res.
, vol.103
, Issue.1-2
, pp. 34-39
-
-
Weise, A.1
Heller, A.2
Starke, H.3
-
16
-
-
42349115184
-
Molecular definition of high-resolution multicolor banding probes: First within the human DNA sequence anchored FISH banding probe set
-
Weise A, Mrasek K, Fickelscher I et al. Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J. Histochem. Cytochem. 56(5), 487-493 (2008
-
(2008)
J. Histochem. Cytochem.
, vol.56
, Issue.5
, pp. 487-493
-
-
Weise, A.1
Mrasek, K.2
Fickelscher, I.3
-
17
-
-
0034493040
-
Advances in the development of chromosome bar codes: Integration of M-FISH and Rx-FISH technology
-
Muller S, Wienberg J. Advances in the development of chromosome bar codes: integration of M-FISH and Rx-FISH technology. Medgen. 12(4), 474-477 (2000
-
(2000)
Medgen.
, vol.12
, Issue.4
, pp. 474-477
-
-
Muller, S.1
Wienberg, J.2
-
18
-
-
33748468774
-
Multicolor banding technique, spectral color banding (SCAN): New development and applications
-
Kakazu N, Abe T. Multicolor banding technique, spectral color banding (SCAN): new development and applications. Cytogenet. Genome Res. 114(3-4), 250-256 (2006
-
(2006)
Cytogenet. Genome Res.
, vol.114
, Issue.3-4
, pp. 250-256
-
-
Kakazu, N.1
Abe, T.2
-
19
-
-
0035168276
-
IPM-FISH, a new M-FISH approach using IRS-PCR painting probes: Application to the analysis of seven human prostate cell lines
-
Aurich-Costa J, Vannier A, Gregoire E, Nowak F, Cherif D. IPM-FISH, a new M-FISH approach using IRS-PCR painting probes: application to the analysis of seven human prostate cell lines. Genes. Chromosomes Cancer 30(2), 143-160 (2001
-
(2001)
Genes. Chromosomes Cancer
, vol.30
, Issue.2
, pp. 143-160
-
-
Aurich-Costa, J.1
Vannier, A.2
Gregoire, E.3
Nowak, F.4
Cherif, D.5
-
20
-
-
0032722329
-
Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8
-
Starke H, Schreyer I, Kahler C et al. Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8. Prenat. Diagn. 19(12), 1169-1174 (1999
-
(1999)
Prenat. Diagn.
, vol.19
, Issue.12
, pp. 1169-1174
-
-
Starke, H.1
Schreyer, I.2
Kahler, C.3
-
21
-
-
17744374774
-
A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH
-
Nietzel A, Rocchi M, Starke H et al. A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum. Genet. 108(3), 199-204 (2001
-
(2001)
Hum. Genet.
, vol.108
, Issue.3
, pp. 199-204
-
-
Nietzel, A.1
Rocchi, M.2
Starke, H.3
-
22
-
-
66449091845
-
Handling small supernumerary marker chromosomes in prenatal diagnostics
-
Liehr T, Ewers E, Kosyakova N et al. Handling small supernumerary marker chromosomes in prenatal diagnostics. Expert Rev. Mol. Diagn. 9(4), 317-324 (2009
-
(2009)
Expert Rev. Mol. Diagn.
, vol.9
, Issue.4
, pp. 317-324
-
-
Liehr, T.1
Ewers, E.2
Kosyakova, N.3
-
23
-
-
79952110522
-
POD-FISH: A new technique for parental origin determination based on copy number variation polymorphism
-
Weise A, Gross M, Hinreiner S, Witthuhn V, Mkrtchyan H, Liehr T. POD-FISH: a new technique for parental origin determination based on copy number variation polymorphism. Methods Mol. Biol. 659, 291-298 (2010
-
(2010)
Methods Mol. Biol.
, vol.659
, pp. 291-298
-
-
Weise, A.1
Gross, M.2
Hinreiner, S.3
Witthuhn, V.4
Mkrtchyan, H.5
Liehr, T.6
-
24
-
-
33748448063
-
Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding
-
Liehr T, Starke H, Heller A et al. Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet. Genome Res. 114(3-4), 240-244 (2006
-
(2006)
Cytogenet. Genome Res.
, vol.114
, Issue.3-4
, pp. 240-244
-
-
Liehr, T.1
Starke, H.2
Heller, A.3
-
25
-
-
84865838042
-
A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH
-
Bucksch M, Ziegler M, Kosayakova N et al. A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH. J. Histochem. Cytochem. 60(7), 530-536 (2012
-
(2012)
J. Histochem. Cytochem.
, vol.60
, Issue.7
, pp. 530-536
-
-
Bucksch, M.1
Ziegler, M.2
Kosayakova, N.3
-
26
-
-
0036930737
-
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
-
Starke H, Seidel J, Henn W et al. Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur. J. Hum. Genet. 10(12), 790-800 (2002
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, Issue.12
, pp. 790-800
-
-
Starke, H.1
Seidel, J.2
Henn, W.3
-
27
-
-
46949093709
-
Fluorescence in situ hybridization for prenatal screening of chromosomal aneuploidies
-
Weise A, Liehr T. Fluorescence in situ hybridization for prenatal screening of chromosomal aneuploidies. Expert Rev. Mol. Diagn. 8(4), 355-357 (2008
-
(2008)
Expert Rev. Mol. Diagn.
, vol.8
, Issue.4
, pp. 355-357
-
-
Weise, A.1
Liehr, T.2
-
28
-
-
84876108161
-
Microdeletion and microduplication syndromes
-
Weise A, Mrasek K, Klein E et al. Microdeletion and microduplication syndromes. J. Histochem. Cytochem. 55(3), 185-190 (2012
-
(2012)
J. Histochem. Cytochem.
, vol.55
, Issue.3
, pp. 185-190
-
-
Weise, A.1
Mrasek, K.2
Klein, E.3
-
29
-
-
0030765306
-
Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation
-
Ligon AH, Beaudet AL, Shaffer LG. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. Am. J. Hum. Genet. 61(1), 51-59 (1997
-
(1997)
Am. J. Hum. Genet.
, vol.61
, Issue.1
, pp. 51-59
-
-
Ligon, A.H.1
Beaudet, A.L.2
Shaffer, L.G.3
-
30
-
-
34248165529
-
Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay
-
Sauter SM, Bohm D, Bartels I et al. Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay. Am. J. Med. Genet. 143A(10), 1091-1099 (2007
-
(2007)
Am. J. Med. Genet.
, vol.143 A
, Issue.10
, pp. 1091-1099
-
-
Sauter, S.M.1
Bohm, D.2
Bartels, I.3
-
31
-
-
78649981526
-
Somatic mosaicism in cases with small supernumerary marker chromosomes
-
Liehr T, Karamysheva T, Merkas M et al. Somatic mosaicism in cases with small supernumerary marker chromosomes. Curr. Genomics 11(6), 432-439 (2010
-
(2010)
Curr. Genomics
, vol.11
, Issue.6
, pp. 432-439
-
-
Liehr, T.1
Karamysheva, T.2
Merkas, M.3
-
32
-
-
79958752005
-
Complex chromosomal rearrangements: Origin and meiotic behavior
-
Pellestor F, Anahory T, Lefort G et al. Complex chromosomal rearrangements: origin and meiotic behavior. Hum. Reprod. Update 17(4), 476-494 (2011
-
(2011)
Hum. Reprod. Update
, vol.17
, Issue.4
, pp. 476-494
-
-
Pellestor, F.1
Anahory, T.2
Lefort, G.3
-
33
-
-
0038241055
-
Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter
-
Trifonov V, Seidel J, Starke H et al. Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat. Diagn. 23(5), 427-430 (2003
-
(2003)
Prenat. Diagn.
, vol.23
, Issue.5
, pp. 427-430
-
-
Trifonov, V.1
Seidel, J.2
Starke, H.3
-
34
-
-
84864387289
-
How to narrow down chromosomal breakpoints in small and large derivative chromosomes - A new probe set
-
Hamid AB, Kreskowski K, Weise A et al. How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set. J. Appl. Genet. 53(3), 259-269 (2012
-
(2012)
J. Appl. Genet.
, vol.53
, Issue.3
, pp. 259-269
-
-
Hamid, A.B.1
Kreskowski, K.2
Weise, A.3
-
35
-
-
30144435732
-
Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC
-
Liehr T, Starke H, Senger G, Melotte C, Weise A, Vermeesch Jr. Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. Am. J. Med. Genet. A 140(1), 46-51 (2006
-
(2006)
Am. J. Med. Genet. A
, vol.140
, Issue.1
, pp. 46-51
-
-
Liehr, T.1
Starke, H.2
Senger, G.3
Melotte, C.4
Weise, A.5
Vermeesch, J.R.6
-
36
-
-
69549096133
-
Molecular cytogenetic characterisation of a mosaic add (12)(p13.3) with an inv dup(3) (q2631 → qter) detected in an autistic boy
-
Carreira IM, Melo JB, Rodrigues C et al. Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3) (q26.31 → qter) detected in an autistic boy. Mol. Cytogenet. 2, 16 (2009
-
(2009)
Mol Cytogenet
, vol.2
, pp. 16
-
-
Carreira, I.M.1
Melo, J.B.2
Rodrigues, C.3
-
37
-
-
84863105790
-
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
-
Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ et al. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep. 1(6), 648-655 (2012
-
(2012)
Cell Rep.
, vol.1
, Issue.6
, pp. 648-655
-
-
Kloosterman, W.P.1
Tavakoli-Yaraki, M.2
Van Roosmalen, M.J.3
-
40
-
-
84876139934
-
-
BACPAC Resources Center (BPRC) Accessed 10 October 2012
-
BACPAC Resources Center (BPRC). http://bacpac.chori.org (Accessed 10 October 2012)
-
-
-
-
41
-
-
84876104187
-
-
MetaSystems GmbH Accessed 10 October 2012
-
MetaSystems GmbH. www.metasystems-international.com (Accessed 10 October 2012
-
-
-
-
42
-
-
84876099513
-
-
Accessed 10 October 2012
-
Kreatech diagnostic. www.kreatech.com (Accessed 10 October 2012
-
Kreatech Diagnostic
-
-
-
43
-
-
84876123715
-
-
Accessed 10 October 2012
-
Abbott/Vysis. www.abbottmolecular.com/us/home.html (Accessed 10 October 2012
-
Abbott/Vysis
-
-
-
44
-
-
84876116896
-
-
Accessed 10 October 2012
-
Cytocell. www.cytocell.com (Accessed 10 October 2012
-
Cytocell
-
-
-
45
-
-
84876140853
-
-
Accessed 10 October 2012
-
DAKO. www.dako.com (Accessed 10 October 2012
-
-
-
-
46
-
-
84876159342
-
-
Accessed 10 October 2012
-
UCSC Human Genome Browser - hg19 assembly. http://genome.ucsc.edu/cgi- bin/hgGatewa y?hgsid=95241316&clade=vertebrate&org =Human&db=hg19 (Accessed 10 October 2012
-
UCSC Human Genome Browser - hg19 Assembly
-
-
-
47
-
-
84876149687
-
-
NCBI Map Viewer Homo Sapiens (human) Build 37.3 Accessed 10 October 2012
-
NCBI Map Viewer Homo sapiens (human) Build 37.3. www.ncbi.nlm.nih.gov/ mapview/maps.cgi? ORG=hum&MAPS=ideogr,est,loc&LIN KS=ON&VERBOSE= ON&CHR=5 (Accessed 10 October 2012
-
-
-
-
48
-
-
84870923207
-
-
Accessed 10 October 2012
-
Ensembl Genome Browser. www.ensembl.org (Accessed 10 October 2012
-
Ensembl Genome Browser
-
-
|