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Genomic amplification of BCR/ABL1 and a region downstream of ABL1 in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines
Anna Virgili, Elisabeth P Nacheva
Molecular Cytogenetics 2010, 3:15 (1 September 2010)
[Abstract] [Provisional PDF]
Research
X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation
Susana I Ferreira, Eunice Matoso, Marta Pinto, Joana Almeida, Thomas Liehr, Joana B Melo, Isabel M Carreira
Molecular Cytogenetics 2010, 3:14 (20 July 2010)
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Case report
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
Lars T van der Veken, Marianne MJ Dieleman, Hannie Douben, Judith C van de Brug, Raoul van de Graaf, A Jeannette M Hoogeboom, Pino J Poddighe, Annelies de Klein
Molecular Cytogenetics 2010, 3:13 (9 July 2010)
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Case report
Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report
Marina Pacheco, Douglas E Horsman, Malcolm M Hayes, Paul W Clarkson, Hassan Huwait, Torsten O Nielsen
Molecular Cytogenetics 2010, 3:12 (2 July 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Research
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
Nicholas J Neill, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer, Blake C Ballif
Molecular Cytogenetics 2010, 3:11 (29 June 2010)
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Research
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
Dilek Aktas, Eda G Utine, Kristin Mrasek, Anja Weise, Ferdinand von Eggeling, Kalbiye Yalaz, Nicole Posorski, Nurten Akarsu, Mehmet Alikasifoglu, Thomas Liehr, Ergul Tuncbilek
Molecular Cytogenetics 2010, 3:10 (28 May 2010)
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Research
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
Joo Wook Ahn, Kathy Mann, Sally Walsh, Marwa Shehab, Sarah Hoang, Zoe Docherty, Shehla Mohammed, Caroline Mackie Ogilvie
Molecular Cytogenetics 2010, 3:9 (15 April 2010)
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Review
Cytogenetic contribution to uniparental disomy (UPD)
Thomas Liehr
Molecular Cytogenetics 2010, 3:8 (29 March 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue
Natalia V Kovaleva
Molecular Cytogenetics 2010, 3:7 (18 March 2010)
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Case report
A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3
Walid Al Achkar, Abdulsamad Wafa, Hasmik Mkrtchyan, Faten Moassass, Thomas Liehr
Molecular Cytogenetics 2010, 3:6 (16 March 2010)
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Research
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
Anna Polityko, Olga Khurs, Natalia Rumyantseva, Irina Naumchik, Nadezda Kosyakova, Holger Tönnies, Karl Sperling, Heidemarie Neitzel, Anja Weise, Thomas Liehr
Molecular Cytogenetics 2010, 3:5 (8 March 2010)
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Research
On the paternal origin of trisomy 21 Down syndrome
Maj A Hultén, Suketu D Patel, Magnus Westgren, Nikos Papadogiannakis, Anna Maria Jonsson, Jon Jonasson, Erik Iwarsson
Molecular Cytogenetics 2010, 3:4 (23 February 2010)
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Research
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
John CK Barber, Dave Bunyan, Merryl Curtis, Denise Robinson, Susanne Morlot, Anette Dermitzel, Thomas Liehr, Claudia Alves, Joana Trindade, Ana I Paramos, Clare Cooper, Kevin Ocraft, Emma-Jane Taylor, Viv K Maloney
Molecular Cytogenetics 2010, 3:3 (18 February 2010)
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Case report
Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis
Leoni Xanthopoulou, Anna Mantzouratou, Anastasia Mania, Suzanne Cawood, Alpesh Doshi, Domenico M Ranieri, Joy DA Delhanty
Molecular Cytogenetics 2010, 3:2 (8 February 2010)
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Review
Human interphase chromosomes: a review of available molecular cytogenetic technologies
Svetlana G Vorsanova, Yuri B Yurov, Ivan Y Iourov
Molecular Cytogenetics 2010, 3:1 (11 January 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [1 comment]
Case report
Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report
David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman, N Carolyn Schanen
Molecular Cytogenetics 2009, 2:27 (18 December 2009)
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Case report
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
Emmanouil Manolakos, Sandro Orru, Rosita Neroutsou, Konstantinos Kefalas, Eirini Louizou, Ioannis Papoulidis, Loretta Thomaidis, Panagiotis Peitsidis, Sotirios Sotiriou, George Kitsos, Panagiota Tsoplou, Michael B Petersen, Aikaterini Metaxotou
Molecular Cytogenetics 2009, 2:26 (9 December 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [1 comment]
Case report
Chromosome r(10)(p15.3q26.12) in a newborn child: case report
Cecilia Gunnarsson, Barbara Graffmann, Jon Jonasson
Molecular Cytogenetics 2009, 2:25 (7 December 2009)
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Case report
Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report
Maria S Juchniuk de Vozzi, Silvio A Santos, Ciro S Pereira, Juliana F Cuzzi, Lucimar AF Laureano, José G Franco Jr, Lucia Martelli
Molecular Cytogenetics 2009, 2:24 (1 December 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Hypothesis
GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny
Yuri B Yurov, Svetlana G Vorsanova, Ivan Y Iourov
Molecular Cytogenetics 2009, 2:23 (25 November 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
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