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Latest articles        [more info]
Case report    
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
Dilek Aktas, Anja Weise, Eda Utine, Dursun Alehan, Kristin Mrasek, Ferdinand von Eggeling, Heike Thieme, Ergul Tuncbilek, Thomas Liehr
Molecular Cytogenetics 2009, 2:14 (30 June 2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]

Methodology    
New sequence-based data on the relative DNA contents of chromosomes in the normal male and female human diploid genomes for radiation molecular cytogenetics
Mikhail V Repin, Pavel I Golubev, Ludmila A Repina
Molecular Cytogenetics 2009, 2:13 (5 June 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
Automated detection of residual cells after sex-mismatched stem-cell transplantation evidence for presence of disease-marker negative residual cells
Jörn Erlecke, Isabell Hartmann, Martin Hoffmann, Torsten Kroll, Heike Starke, Anita Heller, Alexander Gloria, Herbert G Sayer, Tilman Johannes, Uwe Claussen, Thomas Liehr, Ivan F Loncarevic
Molecular Cytogenetics 2009, 2:12 (29 May 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA
Josepha Yeshaya, Itay Amir, Ayelet Rimon, Jane Freedman, Mordechai Shohat, Lydia Avivi
Molecular Cytogenetics 2009, 2:11 (14 March 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind, Detlef Boehm, Thomas Liehr, Knut Brockmann, Ekkehard Wilichowski, Loukas Argyriou, Iris Bartels
Molecular Cytogenetics 2009, 2:10 (12 March 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Case report    
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report
Caroline Mackie Ogilvie, Joo Wook Ahn, Kathy Mann, Roland G Roberts, Frances Flinter
Molecular Cytogenetics 2009, 2:9 (24 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Correction    
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Katerina Anagnostopoulou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr, Aikaterini Metaxotou
Molecular Cytogenetics 2009, 2:8 (20 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Commentary    
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
Maria Luiza Macedo Silva, Maria do Socorro Pombo-de-Oliveira, Susana C Raimondi, Hasmik Mkrtchyan, Eliana Abdelhay, Amanda Faria de Figueiredo, Mariana Tavares de Souza, Daniela Ribeiro Ney Garcia, Eliane Maria Soares de Ventura, Adriana Martins de Sousa, Thomas Liehr
Molecular Cytogenetics 2009, 2:7 (19 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Case report    
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report
Gitte J Almind, Karen Brøndum-Nielsen, Regitze Bangsgaard, Peter Baekgaard, Karen Grønskov
Molecular Cytogenetics 2009, 2:6 (17 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes
Elizabeth J Bhoj, Stefano Romeo, Marco G Baroni, Guy Bartov, Roger A Schultz, Andrew R Zinn
Molecular Cytogenetics 2009, 2:5 (13 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
The hierarchically organized splitting of chromosomal bands for all human chromosomes
Nadezda Kosyakova, Anja Weise, Kristin Mrasek, Uwe Claussen, Thomas Liehr, Heike Nelle
Molecular Cytogenetics 2009, 2:4 (26 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [1 comment]

Case report    
Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier
Anna Mantzouratou, Anastasia Mania, Marianna Apergi, Sarah Laver, Paul Serhal, JDA Delhanty
Molecular Cytogenetics 2009, 2:3 (23 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Case report    
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
Roland Haj, Kelly Jackson, Beth A Torchia, Lisa G Shaffer, Bassem A Bejjani, Gordon C Gowans, Michael E Ruff
Molecular Cytogenetics 2009, 2:2 (7 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Case report    
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr, Aikaterini Metaxotou
Molecular Cytogenetics 2009, 2:1 (7 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Research    
Validation of DNA probes for molecular cytogenetics by mapping onto immobilized circular DNA
Karin M Greulich-Bode, Mei Wang, Andreas P Rhein, Jingly F Weier, Heinz-Ulli G Weier
Molecular Cytogenetics 2008, 1:28 (23 December 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH
Serdar Kasakyan, Laurence Lohmann, Azeddine Aboura, Mazin Quimsiyeh, Yves Menezo, Gerard Tachdjian, Moncef Benkhalifa
Molecular Cytogenetics 2008, 1:27 (23 December 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Editorial    
Chromosomal mosaicism goes global
Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov
Molecular Cytogenetics 2008, 1:26 (25 November 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
Chromosome distribution in human sperm a 3D multicolor banding-study
Marina Manvelyan, Friederike Hunstig, Samarth Bhatt, Kristin Mrasek, Franck Pellestor, Anja Weise, Isabella Simonyan, Rouben Aroutiounian, Thomas Liehr
Molecular Cytogenetics 2008, 1:25 (14 November 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Case report    
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr, Michael B Petersen
Molecular Cytogenetics 2008, 1:24 (11 November 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

Research    
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
Christine Tyson, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Barbara McGillivray, Sandra A Farrell, Laura Arbour, Albert E Chudley, Lorne Clarke, William Gibson, Sarah Dyack, Ross McLeod, Teresa Costa, Margot I VanAllen, Siu-li Yong, Gail E Graham, Patrick MacLeod, Millan S Patel, Jane Hurlburt, Jeanette JA Holden, Suzanne ME Lewis, Evica Rajcan-Separovic
Molecular Cytogenetics 2008, 1:23 (11 November 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]

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