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Research   Open Access

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

Nicole Hoppman, Umut Aypar, Pamela Brodersen, Neil Brown, Justin Wilson, Dusica Babovic-Vuksanovic Molecular Cytogenetics 2013, 6:19 (6 May 2013)

Abstract | Provisional PDF | PubMed

Case report   Open Access

A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints

Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Othman, Abdulsamad Wafa Molecular Cytogenetics 2013, 6:18 (5 May 2013)

Abstract | Provisional PDF | PubMed

Research   Open Access

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

Morteza Hemmat, Omid Hemmat, Arturo Anguiano, Fatih Z Boyar, Mohammed El Naggar, Jia-Chi Wang, Borris T Wang, Trilochan Sahoo, Renius Owen, Mary Haddadin Molecular Cytogenetics 2013, 6:17 (2 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Reviewer Acknowledgement   Open Access

Reviewer acknowledgement 2013

Thomas Liehr, Henry Heng, Yuri Yurov Molecular Cytogenetics 2013, 6:9 (15 April 2013)

Abstract | Full text | PDF | ePUB | PubMed

Short report   Open Access

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients

Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall, Caroline Mackie Ogilvie Molecular Cytogenetics 2013, 6:16 (5 April 2013)

Abstract | Full text | PDF | ePUB | PubMed

Case report   Open Access

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

Toshiyuki Yamamoto, Mari Matsuo, Shino Shimada, Noriko Sangu, Keiko Shimojima, Seijiro Aso, Kayoko Saito Molecular Cytogenetics 2013, 6:15 (3 April 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

Heteromorphic variants of chromosome 9

Nadezda Kosyakova, Ani Grigorian, Thomas Liehr, Marina Manvelyan, Isabella Simonyan, Hasmik Mkrtchyan, Rouben Aroutiounian, Anna D Polityko, Anna I Kulpanovich, Tatiana Egorova, Evgenia Jaroshevich, Alla Frolova, Natalia Shorokh, Irina V Naumchik, Marianne Volleth, Isolde Schreyer, Heike Nelle, Markus Stumm, Rolf-Dieter Wegner, Gisela Reising-Ackermann, Martina Merkas, Lukretija Brecevic, Thomas Martin, Laura Rodríguez, Samarth Bhatt, Monika Ziegler, Katharina Kreskowski, Anja Weise, Ali Sazci, Svetlana Vorsanova, Marcelo de Bello Cioffi, Emel Ergul et al. Molecular Cytogenetics 2013, 6:14 (1 April 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

Cytogenetic analysis in three Bryconamericus species (Characiformes, Characidae): first description of the 5S rDNA-bearing chromosome pairs in the genus

Diovani Piscor, Daniela Bocagini Ribacinko-Piscor, Carlos Alexandre Fernandes, Patricia Pasquali Parise-Maltempi Molecular Cytogenetics 2013, 6:13 (1 April 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

Chromosomal mapping of microsatellite repeats in the rock bream fish Oplegnathus fasciatus, with emphasis of their distribution in the neo-Y chromosome

Dongdong Xu, Bao Lou, Luiz Bertollo, Marcelo Cioffi Molecular Cytogenetics 2013, 6:12 (19 March 2013)

Abstract | Full text | PDF | ePUB | PubMed

Case report   Open Access

A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization

Qingwei Qi, Xiya Zhou, Yulin Jiang, Na Hao, Jing Zhou, Liang Zhang Molecular Cytogenetics 2013, 6:11 (6 March 2013)

Abstract | Full text | PDF | PubMed

Commentary   Open Access

Extending Barrett’s esophagus cancer risk profile towards genetic abnormalities

Reza Asari, Martin Riegler, Sebastian F Schoppmann Molecular Cytogenetics 2013, 6:10 (4 March 2013)

Abstract | Full text | PDF | ePUB | PubMed

Review   Open Access

The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges

Hoh BoonPeng, Khalid Yusoff Molecular Cytogenetics 2013, 6:8 (1 March 2013)

Abstract | Full text | PDF | PubMed

Methodology   Open Access

Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability

Leona Morozin Pohovski, Katja K Dumic, Ljubica Odak, Ingeborg Barisic Molecular Cytogenetics 2013, 6:7 (6 February 2013)

Abstract | Full text | PDF | PubMed

Methodology   Open Access

Generation of multicolor banding probes for chromosomes of different species

Nadezda Kosyakova, Ahmed Basheer Hamid, Arunrat Chaveerach, Krit Pinthong, Pornnarong Siripiyasing, Weerayuth Supiwong, Svetlana Romanenko, Vladimir Trifonov, Xiaobo Fan Molecular Cytogenetics 2013, 6:6 (4 February 2013)

Abstract | Full text | PDF | PubMed

Case report   Open Access

Atypical rearrangement involving 3′-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression

Ina Amarillo, Peter H Bui, Sibel Kantarci, Nagesh Rao, Brit S Shackley, Rolando García, Carlos A Tirado Molecular Cytogenetics 2013, 6:5 (1 February 2013)

Abstract | Full text | PDF | PubMed

Research   Open Access

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Daniela Di Benedetto, Giuseppa Di Vita, Corrado Romano, Mariangela Lo Giudice, Girolamo Aurelio Vitello, Marinella Zingale, Lucia Grillo, Lucia Castiglia, Sebastiano Antonino Musumeci, Marco Fichera Molecular Cytogenetics 2013, 6:4 (17 January 2013)

Abstract | Full text | PDF | PubMed

Research   Open Access

Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines

Young Mi Kim, Ji-Yun Lee, Lijun Xia, John J Mulvihill, Shibo Li Molecular Cytogenetics 2013, 6:3 (16 January 2013)

Abstract | Full text | PDF | PubMed

Case report   Open Access

7q36 deletion and 9p22 duplication: effects of a double imbalance

Karla de Pelegrino, Sofia Sugayama, Ana Catelani, Karina Lezirovitz, Fernando Kok, Maria de Chauffaille Molecular Cytogenetics 2013, 6:2 (15 January 2013)

Abstract | Full text | PDF | PubMed

Research   Open Access

A specific family of interspersed repeats (SINEs) facilitates meiotic synapsis in mammals

Matthew E Johnson, Ross A Rowsey, Sofia Shirley, Catherine VandeVoort, Jeffrey Bailey, Terry Hassold Molecular Cytogenetics 2013, 6:1 (1 January 2013)

Abstract | Full text | PDF | PubMed

Research   Open Access

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

Ivan Y Iourov, Svetlana G Vorsanova, Oxana S Kurinnaia, Maria A Zelenova, Alexandra P Silvanovich, Yuri B Yurov Molecular Cytogenetics 2012, 5:46 (31 December 2012)

Abstract | Full text | PDF | PubMed

Research   Open Access

Chromosome mapping of repetitive sequences in Anostomidae species: implications for genomic and sex chromosome evolution

Edson Lourenço da Silva, Rafael Splendore de Borba, Patrícia Pasquali Parise-Maltempi Molecular Cytogenetics 2012, 5:45 (11 December 2012)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research   Open Access

Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas

Zunyan Dai, JoAnn C Kelly, Aurelia Meloni-Ehrig, Marilyn L Slovak, Debra Boles, Nicole C Christacos, Christine R Bryke, Steven A Schonberg, Jennifer Otani-Rosa, Qiulu Pan, Albert K Ho, Heather R Sanders, Zhong J Zhang, Dan Jones, Philip N Mowrey Molecular Cytogenetics 2012, 5:44 (3 December 2012)

Abstract | Full text | PDF | PubMed

Research   Open Access

Prolonged exposure to acid and bile induces chromosome abnormalities that precede malignant transformation of benign Barrett’s epithelium

Manisha Bajpai, Hana Aviv, Kiron M Das Molecular Cytogenetics 2012, 5:43 (29 November 2012)

Abstract | Full text | PDF | PubMed

Correction   Open Access

Correction: The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system

Marcelo de Bello Cioffi, Eduard Kejnovský, Vinicius Marquioni, Juliana Poltronieri, Wagner F Molina, Débora Diniz, Luiz Antonio C Bertollo Molecular Cytogenetics 2012, 5:42 (27 November 2012)

Abstract | Full text | PDF | PubMed

Research   Open Access

Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization

Zubaidah Zakaria, Mohd Fadly Md Ahid, Azli Ismail, Ten Sew Keoh, Nooraisyah Mohamad Nor, Nor Rizan Kamaluddin, Ezalia Esa, Lam Kah Yuen, Eni Juraida Abdul Rahman, Raudhawati Osman Molecular Cytogenetics 2012, 5:41 (15 November 2012)

Abstract | Full text | PDF | PubMed

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