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Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon
Marina Manvelyan, Friederike Hunstig, Kristin Mrasek, Samarth Bhatt, Franck Pellestor, Anja Weise, Thomas Liehr
Molecular Cytogenetics 2008, 1:9 (29 April 2008)
[Abstract] [Provisional PDF]
Research
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Blake C Ballif, Aaron Theisen, Justine Coppinger, Gordon C Gowans, Joseph H Hersh, Suneeta Madan-Khetarpal, Karen R Schmidt, Raymond Tervo, Luis F Escobar, Christopher A Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E Ming, Elaine H Zackai, Bassem A Bejjani, Lisa G Shaffer
Molecular Cytogenetics 2008, 1:8 (28 April 2008)
[Abstract] [Provisional PDF]
Research
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, Anne V Hing, Ian A Glass, Michael L Raff, Thomas Norwood, Beth A Torchia
Molecular Cytogenetics 2008, 1:7 (21 April 2008)
[Abstract] [Full Text] [PDF]
Research
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
Vladimir Trifonov, Simon Fluri, Franz Binkert, Adayapalam Nandini, Jasen Anderson, Laura Rodriguez, Madeleine Gross, Nadezda Kosyakova, Hasmik Mkrtchyan, Elisabeth Ewers, Daniela Reich, Anja Weise, Thomas Liehr
Molecular Cytogenetics 2008, 1:6 (15 April 2008)
[Abstract] [Full Text] [PDF]
Methodology
An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)
Mahmoud S Khaniani, Paul Kalitsis, Trent Burgess, Howard R Slater
Molecular Cytogenetics 2008, 1:5 (8 April 2008)
[Abstract] [Full Text] [PDF]
Case report
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1 q12.1 in a healthy man
Laura Rodríguez, Tomas Liehr, María Luisa Martínez-Fernández, Ana Lara, Antonio Torres, María Luisa Martínez-Frías
Molecular Cytogenetics 2008, 1:4 (2 April 2008)
[Abstract] [Full Text] [PDF]
Methodology
Direct fluorescent labelling of clones by DOP PCR
Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch, Joris R Vermeesch
Molecular Cytogenetics 2008, 1:3 (26 March 2008)
[Abstract] [Full Text] [PDF]
Research
Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis
Joo Wook Ahn, Kathy Mann, Zoe Docherty, Caroline Mackie Ogilvie
Molecular Cytogenetics 2008, 1:2 (26 March 2008)
[Abstract] [Full Text] [PDF]
Editorial
A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics
Yuri B Yurov, Thomas Liehr, Lisa G Shaffer, Ivan Y Iourov, Svetlana G Vorsanova
Molecular Cytogenetics 2008, 1:1 (26 March 2008)
[Abstract] [Full Text] [PDF]
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