-
1
-
-
37249022297
-
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients
-
DOI 10.1136/jmg.2007.052787
-
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. M De Gregori R Ciccone P Magini T Pramparo S Gimelli J Messa F Novara A Vetro E Rossi P Maraschio MC Bonaglia C Anichini GB Ferrero M Silengo E Fazzi A Zatterale R Fischetto C Previderé S Belli A Turci G Calabrese F Bernardi E Meneghelli M Riegel M Rocchi S Guerneri F Lalatta L Zelante C Romano MA Fichera T Mattina G Arrigo M Zollino S Giglio F Lonardo A Bonfante A Ferlini F Cifuentes H Van Esch L Backx A Schinzel JR Vermeesch O Zuffardi, J Med Genet 2007 44 750 762 10.1136/jmg.2007.052787 17766364 (Pubitemid 350275048)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.12
, pp. 750-762
-
-
De Gregori, M.1
Ciccone, R.2
Magini, P.3
Pramparo, T.4
Gimelli, S.5
Messa, J.6
Novara, F.7
Vetro, A.8
Rossi, E.9
Maraschio, P.10
Bonaglia, M.C.11
Anichini, C.12
Ferrero, G.B.13
Silengo, M.14
Fazzi, E.15
Zatterale, A.16
Fischetto, R.17
Previdere, C.18
Belli, S.19
Turci, A.20
Calabrese, G.21
Bernardi, F.22
Meneghelli, E.23
Riegel, M.24
Rocchi, M.25
Guerneri, S.26
Lalatta, F.27
Zelante, L.28
Romano, C.29
Fichera, Ma.30
Martina, T.31
Arrigo, G.32
Zollino, M.33
Giglio, S.34
Lonardo, F.35
Bonfante, A.36
Ferlini, A.37
Cifuentes, F.38
Van Esch, H.39
Backx, L.40
Schinzel, A.41
Vermeesch, J.R.42
Zuffardi, O.43
more..
-
2
-
-
63449115513
-
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: Updated systematic review and meta-analysis of 19 studies and 13,926 subjects
-
10.1097/GIM.0b013e318194ee8f. 19367186
-
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. GS Sagoo AS Butterworth S Sanderson C Shaw-Smith JP Higgins H Burton, Genet Med 2009 11 139 46 10.1097/GIM.0b013e318194ee8f 19367186
-
(2009)
Genet Med
, vol.11
, pp. 139-46
-
-
Sagoo, G.S.1
Butterworth, A.S.2
Sanderson, S.3
Shaw-Smith, C.4
Higgins, J.P.5
Burton, H.6
-
3
-
-
79951943283
-
Development of new postnatal diagnostic methods for chromosome disorders
-
Development of new postnatal diagnostic methods for chromosome disorders. LG Shaffer BA Bejjani, Semin Fetal Neonatal Med 2011 18 114 8
-
(2011)
Semin Fetal Neonatal Med
, vol.18
, pp. 114-8
-
-
Shaffer, L.G.1
Bejjani, B.A.2
-
4
-
-
58249089865
-
Multiple putative oncogenes at the chromosome 20q amplicon contribute to colorectal adenoma to carcinoma progression
-
10.1136/gut.2007.143065. 18829976
-
Multiple putative oncogenes at the chromosome 20q amplicon contribute to colorectal adenoma to carcinoma progression. B Carvalho C Postma S Mongera E Hopmans S Diskin MA van de Wiel W van Criekinge O Thas A Mattäi MA Cuesta JS Terhaar sive Droste ME Craanen E Schröck B Ylstra GA Meijer, Gut 2009 58 79 89 10.1136/gut.2007.143065 18829976
-
(2009)
Gut
, vol.58
, pp. 79-89
-
-
Carvalho, B.1
Postma, C.2
Mongera, S.3
Hopmans, E.4
Diskin, S.5
Van De Wiel, M.A.6
Van Criekinge, W.7
Thas, O.8
Mattäi, A.9
Cuesta, M.A.10
Terhaar Sive Droste, J.S.11
Craanen, M.E.12
Schröck, E.13
Ylstra, B.14
Meijer, G.A.15
-
5
-
-
56949095619
-
Chromosomal changes characterize head and neck cancer with poor prognosis
-
10.1007/s00109-008-0397-0. 18810378
-
Chromosomal changes characterize head and neck cancer with poor prognosis. VL Bauer H Braselmann M Henke D Mattern A Walch K Unger M Baudis S Lassmann R Huber J Wienberg M Werner HF Zitzelsberger, J Mol Med 2008 86 1353 1365 10.1007/s00109-008-0397-0 18810378
-
(2008)
J Mol Med
, vol.86
, pp. 1353-1365
-
-
Bauer, V.L.1
Braselmann, H.2
Henke, M.3
Mattern, D.4
Walch, A.5
Unger, K.6
Baudis, M.7
Lassmann, S.8
Huber, R.9
Wienberg, J.10
Werner, M.11
Zitzelsberger, H.F.12
-
6
-
-
33847195418
-
Oligonucleotide array-CGH reveals cryptic gene copy number alterations in karyotypically normal acute myeloid leukemia
-
10.1038/sj.leu.2404543. 17268525
-
Oligonucleotide array-CGH reveals cryptic gene copy number alterations in karyotypically normal acute myeloid leukemia. A Tyybäkinoja E Elonen K Piippo K Porkka S Knuutila, Leukemia 2007 21 571 574 10.1038/sj.leu.2404543 17268525
-
(2007)
Leukemia
, vol.21
, pp. 571-574
-
-
Tyybäkinoja, A.1
Elonen, E.2
Piippo, K.3
Porkka, K.4
Knuutila, S.5
-
7
-
-
78149424920
-
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes
-
10.1186/1755-8166-3-23. 21078186
-
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes. ML Slovak DD Smith V Bedell YH Hsu M O'Donell SJ Forman K Gaal L McDaniel R Schultz BC Ballif LG Shaffer, Molecular cytogenetics 2010 3 23 10.1186/1755-8166-3-23 21078186
-
(2010)
Molecular Cytogenetics
, vol.3
, pp. 23
-
-
Slovak, M.L.1
Smith, D.D.2
Bedell, V.3
Hsu, Y.H.4
O'Donell, M.5
Forman, S.J.6
Gaal, K.7
McDaniel, L.8
Schultz, R.9
Ballif, B.C.10
Shaffer, L.G.11
-
8
-
-
78651539523
-
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic sindrome and acute myeloid leucemia
-
10.1186/1755-8166-4-3. 21251322
-
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic sindrome and acute myeloid leucemia. R Bajaj F Xu B Xiang K Wilcox AJ DiAdamo R Kumar A Pietraszkiewicz S Halene P Li, Molecular cytogenetics 2011 4 3 10.1186/1755-8166-4-3 21251322
-
(2011)
Molecular Cytogenetics
, vol.4
, pp. 3
-
-
Bajaj, R.1
Xu, F.2
Xiang, B.3
Wilcox, K.4
Diadamo, A.J.5
Kumar, R.6
Pietraszkiewicz, A.7
Halene, S.8
Li, P.9
-
9
-
-
68949213291
-
Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies
-
10.1111/j.1365-2141.2009.07757.x. 19563474
-
Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. JP Maciejewski RV Tiu C O'Keefe, Br J Haematol 2009 146 479 488 10.1111/j.1365-2141.2009.07757.x 19563474
-
(2009)
Br J Haematol
, vol.146
, pp. 479-488
-
-
MacIejewski, J.P.1
Tiu, R.V.2
O'Keefe, C.3
-
10
-
-
52949096853
-
Clinical utility of contemporary molecular cytogenetics
-
10.1146/annurev.genom.9.081307.164207. 18949852
-
Clinical utility of contemporary molecular cytogenetics. BA Bejjani LG Shaffer, Annu Rev Genomics Hum Genet 2008 9 71 86 10.1146/annurev.genom.9. 081307.164207 18949852
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 71-86
-
-
Bejjani, B.A.1
Shaffer, L.G.2
-
11
-
-
33845274890
-
Detection of low-level mosaicism by array CGH in routine diagnostic specimens
-
DOI 10.1002/ajmg.a.31539
-
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. BC Ballif EA Rorem K Sundin M Lincicum S Gaskin J Coppinger CD Kashork LG Shaffer BA Bejjani, Am J Med Genet Part A 2006 140A 2757 2767 10.1002/ajmg.a.31539 (Pubitemid 44865062)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.24
, pp. 2757-2767
-
-
Ballif, B.C.1
Rorem, E.A.2
Sundin, K.3
Lincicum, M.4
Gaskin, S.5
Coppinger, J.6
Kashork, C.D.7
Shaffer, L.G.8
Bejjani, B.A.9
-
12
-
-
34547697696
-
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
-
DOI 10.1002/ajmg.a.31740
-
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. SW Cheung CA Shaw DA Scott A Patel T Sahoo CA Bacino A Pursley J Li R Erickson AL Gropman DT Miller MR Seashore AM Summers P Stankiewicz AC Chinault JR Lupski AL Beaudet VR Sutton,, et al. Am J Med Genet Part A 2007 143A 1679 1686 10.1002/ajmg.a.31740 17607705 (Pubitemid 47217264)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.15
, pp. 1679-1686
-
-
Cheung, S.W.1
Shaw, C.A.2
Scott, D.A.3
Patel, A.4
Sahoo, T.5
Bacino, C.A.6
Pursley, A.7
Li, J.8
Erickson, R.9
Gropman, A.L.10
Miller, D.T.11
Seashore, M.R.12
Summers, A.M.13
Stankiewicz, P.14
Chinault, A.C.15
Lupski, J.R.16
Beaudet, A.L.17
Sutton, V.R.18
-
13
-
-
77953956556
-
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
-
10.1186/1755-8166-3-11. 20587050
-
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. NJ Neill BS Torchia BA Bejjani LG Shaffer BC Ballif, Mol Cytogenet 2010 3 11 10.1186/1755-8166-3-11 20587050
-
(2010)
Mol Cytogenet
, vol.3
, pp. 11
-
-
Neill, N.J.1
Torchia, B.S.2
Bejjani, B.A.3
Shaffer, L.G.4
Ballif, B.C.5
-
14
-
-
54049105351
-
High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival
-
10.1182/blood-2007-11-122028. 18663149
-
High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival. DT Starczynowski S Vercauteren A Telenius S Sung K Tohyama A Brooks-Wilson JJ Spinelli CJ Eaves AC Eaves DE Horsman WL Lam A Karsan, Blood 2008 112 3412 3424 10.1182/blood-2007-11-122028 18663149
-
(2008)
Blood
, vol.112
, pp. 3412-3424
-
-
Starczynowski, D.T.1
Vercauteren, S.2
Telenius, A.3
Sung, S.4
Tohyama, K.5
Brooks-Wilson, A.6
Spinelli, J.J.7
Eaves, C.J.8
Eaves, A.C.9
Horsman, D.E.10
Lam, W.L.11
Karsan, A.12
-
15
-
-
63449134714
-
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: The role of ageing, karyotype instability, and acquired chromosome anomalies
-
10.1111/j.1365-2141.2009.07611.x. 19222471
-
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies. E Maserati B Pressato R Valli A Minelli L Sainati F Patitucci C Marletta A Mastronuzzi F Poli F Lo Curto F Locatelli C Danesino F Pasquali, Br J Haematol 2009 145 190 197 10.1111/j.1365-2141.2009.07611.x 19222471
-
(2009)
Br J Haematol
, vol.145
, pp. 190-197
-
-
Maserati, E.1
Pressato, B.2
Valli, R.3
Minelli, A.4
Sainati, L.5
Patitucci, F.6
Marletta, C.7
Mastronuzzi, A.8
Poli, F.9
Lo Curto, F.10
Locatelli, F.11
Danesino, C.12
Pasquali, F.13
-
16
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
DOI 10.1038/ng1416
-
Detection of large-scale variation in the human genome. AJ Iafrate L Feuk MN Rivera ML Listewnik PK Donahoe Y Qi SW Scherer C Lee, Nat Genet 2004 36 949 951 10.1038/ng1416 15286789 (Pubitemid 39167488)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, 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
-
17
-
-
33744532891
-
Establishment and study of different real-time polymerase chain reaction assays for the quantification of cells with deletions of chromosome 7
-
DOI 10.2353/jmoldx.2006.050111
-
Establishment and study of different Real-Time Polymerase Chain Reaction assays for the quantification of cells with deletions of chromosome 7. E Mattarucchi M Marsoni A Passi F Lo Curto F Pasquali G Porta, J Mol Diagn 2006 8 218 224 10.2353/jmoldx.2006.050111 16645208 (Pubitemid 43811245)
-
(2006)
Journal of Molecular Diagnostics
, vol.8
, Issue.2
, pp. 218-224
-
-
Mattarucchi, E.1
Marsoni, M.2
Passi, A.3
Lo Curto, F.4
Pasquali, F.5
Porta, G.6
-
19
-
-
34447636956
-
Monosomy 7 in myeloid malignancies: Parental origin and monitoring by real-time quantitative PCR [8]
-
DOI 10.1038/sj.leu.2404708, PII 2404708
-
Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. G Porta E Maserati E Mattarucchi A Minelli B Pressato R Valli M Zecca ME Bernardo F Lo Curto F Locatelli C Danesino F Pasquali, Leukemia 2007 21 1833 1835 10.1038/sj.leu.2404708 17460707 (Pubitemid 47086778)
-
(2007)
Leukemia
, vol.21
, Issue.8
, pp. 1833-1835
-
-
Porta, G.1
Maserati, E.2
Mattarucchi, E.3
Minelli, A.4
Pressato, B.5
Valli, R.6
Zecca, M.7
Bernardo, M.E.8
Curto, F.L.9
Locatelli, F.10
Danesino, C.11
Pasquali, F.12
-
20
-
-
33644755462
-
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies
-
DOI 10.1002/gcc.20301
-
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. E Maserati A Minelli B Pressato R Valli B Crescenzi M Stefanelli G Menna L Sainati F Poli C Panarello M Zecca F Lo Curto C Mecucci C Danesino F Pasquali, Genes Chromosomes Cancer 2006 45 375 382 10.1002/gcc.20301 16382447 (Pubitemid 43346769)
-
(2006)
Genes Chromosomes and Cancer
, vol.45
, Issue.4
, pp. 375-382
-
-
Maserati, E.1
Minelli, A.2
Pressato, B.3
Valli, R.4
Crescenzi, B.5
Stefanelli, M.6
Menna, G.7
Sainati, L.8
Poli, F.9
Panarello, C.10
Zecca, M.11
Lo Curto, F.12
Mecucci, C.13
Danesino, C.14
Pasquali, F.15
-
21
-
-
79957573977
-
Evaluating chromosomal mosaicism by array-CGH in relation to clinical issues in haematological malignancies and cancer: The proposal of a formula
-
Evaluating chromosomal mosaicism by array-CGH in relation to clinical issues in haematological malignancies and cancer: the proposal of a formula. R Valli E Maserati C Marletta B Pressato F Lo Curto F Pasquali, Cancer Genet
-
Cancer Genet
-
-
Valli, R.1
Maserati, E.2
Marletta, C.3
Pressato, B.4
Lo Curto, F.5
Pasquali, F.6
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