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  1. Acute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important i...

    Authors: Christian Paar, Gabriele Herber, Daniela Voskova, Michael Fridrik, Herbert Stekel and Jörg Berg
    Citation: Molecular Cytogenetics 2013 6:40
  2. ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia ...

    Authors: Katya Gancheva, Andres Virchis, Julie Howard-Reeves, Nick CP Cross, Diana Brazma, Colin Grace, Paul Kotzampaltiris, Fedra Partheniou and Elisabeth Nacheva
    Citation: Molecular Cytogenetics 2013 6:39
  3. Genomic microarrays have been used as the first-tier cytogenetic diagnostic test for patients with developmental delay/intellectual disability, autism spectrum disorders and/or multiple congenital anomalies. T...

    Authors: Yao-Shan Fan, Xiaomei Ouyang, Jinghong Peng, Stephanie Sacharow, Mustafa Tekin, Deborah Barbouth, Olaf Bodamer, Roman Yusupov, Christina Navarrete, Ana H Heller and Sérgio DJ Pena
    Citation: Molecular Cytogenetics 2013 6:38
  4. Cytogenetic studies in Brazilian population about childhood acute lymphoblastic leukemia (ALL), the most common childhood malignancy, are scarce. Moreover, Brazilian race is very heterogeneous and is made by t...

    Authors: Erica Aires Gil, Tirzah Braz Petta Lajus, Taissa Maria Oliveira de Moura, Juliana Mendonça Freire, Andréa Luciana Araújo da Fernandes, Gioconda Dias Rodrigues Leão, Edlene Melo Reis do Nascimento, Gabriela Vasconcelos Andrade de Alves and Geraldo Barroso Cavalcanti Júnior
    Citation: Molecular Cytogenetics 2013 6:37
  5. Jumping translocations are a rare type of mosaicism in which the same portion of one donor chromosome is translocated to several recipient chromosomes. Constitutional forms of jumping translocations are rare, ...

    Authors: Morteza Hemmat, Omid Hemmat and Fatih Z Boyar
    Citation: Molecular Cytogenetics 2013 6:36
  6. Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturb...

    Authors: Emese Horváth, Zsuzsanna Horváth, Dóra Isaszegi, Gyurgyinka Gergev, Nikoletta Nagy, János Szabó, László Sztriha, Márta Széll and Emőke Endreffy
    Citation: Molecular Cytogenetics 2013 6:35
  7. Follicular lymphoma (FL) is a common form of non-Hodgkin lymphoma with an ability to transform into a more aggressive disease, albeit infrequently to B-lymphoblastic leukemia/lymphoma. While t(14;18)(q32;q21) ...

    Authors: Yi Ning, Aubry Foss, Amy S Kimball, Nicholas Neill, Tricia Matz and Roger Schultz
    Citation: Molecular Cytogenetics 2013 6:34
  8. Plasma cell leukemia (PCL) is a rare lymphoproliferative disorder, accounting for 1-2% of all plasma cell neoplasms, characterized by the presence of >2 × 109/l of plasma cells circulating in the peripheral blood...

    Authors: Walid Al Achkar, Abdulsamad Wafa, Abdulmunim Aljapawe, Moneeb Ak Othman, Eyad Alhourani and Thomas Liehr
    Citation: Molecular Cytogenetics 2013 6:33
  9. In assisted reproductive treatments, embryos remaining after fresh embryo transfer are usually selected for cryopreservation based on traditional morphology assessment. Our previous report has demonstrated tha...

    Authors: Zhihong Yang, Shala A Salem, Xiaohong Liu, Yanping Kuang, Rifaat D Salem and Jiaen Liu
    Citation: Molecular Cytogenetics 2013 6:32
  10. The reports of 1q25-32 deletion cases are rare. We reported here an 11-year-old Chinese Han female with an interstitial 1q25 deletion displaying mental retardation, clinodactyly of the 5th finger and minor fac...

    Authors: Ping Hu, Yan Wang, Lu-lu Meng, Ling Qin, Ding-yuan Ma, Long Yi and Zheng-feng Xu
    Citation: Molecular Cytogenetics 2013 6:30
  11. Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical feat...

    Authors: Rita Genesio, Valentina Ronga, Pia Castelluccio, Gennaro Fioretti, Angela Mormile, Graziella Leone, Anna Conti, Maria Luigia Cavaliere and Lucio Nitsch
    Citation: Molecular Cytogenetics 2013 6:29
  12. To expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the sperm chromosome of paternal origin, which determine...

    Authors: Aránzazu Margallo Balsera, Manuela Núñez Estévez, Emilia Balboa Beltrán, Plácida Sánchez-Giralt, Luz González García, Trinidad Herrera Moreno, Mayte García de Cáceres, José M Carbonell Pérez, Enrique Galán Gómez and Raquel Rodríguez-López
    Citation: Molecular Cytogenetics 2013 6:25
  13. Exact breakpoint determination by oligonucleotide array-CGH has improved the analysis of genotype-phenotype correlations in cases with chromosome aberrations allowing a more accurate definition of relevant gen...

    Authors: Frenny Sheth, Joris Andrieux, Stuti Tewari, Harsh Sheth, Manisha Desai, Pritti Kumari, Nidhish Nanavaty and Jayesh Sheth
    Citation: Molecular Cytogenetics 2013 6:24
  14. Deletions of the gene encoding mediator subcomplex 12 (MED12) in human smooth muscle tumors rank among the most frequent genomic alterations in human tumors at all. In a minority of these cases, small deletion...

    Authors: Dominique Nadine Markowski, Rolf Nimzyk, Gazanfer Belge, Thomas Löning, Burkhard Maria Helmke and Jörn Bullerdiek
    Citation: Molecular Cytogenetics 2013 6:23
  15. Chromosomal abnormalities are common in embryos produced in vitro and cause implantation failure, miscarriage, and serious medical problems in infants. Because preimplantation genetic screening (PGS) is increasin...

    Authors: Mi Kyung Chung, Hyeon Jeong Jeong, Jung Hyun Lee, Sang-Jin Park, Hee-Doo Chung and Ho-Young Kang
    Citation: Molecular Cytogenetics 2013 6:22
  16. Array comparative genomic hybridization (CGH) is a powerful tool for detecting unbalanced chromosomal alterations. To validate the usefulness of array CGH in newborn screening, we examined 20,126 unselected in...

    Authors: Sang-Jin Park, Eun Hye Jung, Ran-Suk Ryu, Hyun Woong Kang, He Doo Chung and Ho-Young Kang
    Citation: Molecular Cytogenetics 2013 6:21
  17. Hearing loss is the most common birth defect and the most prevalent sensorineural disorder in developed countries. More than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndrom...

    Authors: Nicole Hoppman, Umut Aypar, Pamela Brodersen, Neil Brown, Justin Wilson and Dusica Babovic-Vuksanovic
    Citation: Molecular Cytogenetics 2013 6:19
  18. Acute myelogeneous leukemia (AML) is a malignancy of the hematopoietic stem cells, for which cytogenetic analysis is still one of the most important diagnostic and prognostic tools. Still, we are far away from...

    Authors: Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Kassem Othman and Abdulsamad Wafa
    Citation: Molecular Cytogenetics 2013 6:18
  19. Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of reco...

    Authors: Morteza Hemmat, Omid Hemmat, Arturo Anguiano, Fatih Z Boyar, Mohammed El Naggar, Jia-Chi Wang, Borris T Wang, Trilochan Sahoo, Renius Owen and Mary Haddadin
    Citation: Molecular Cytogenetics 2013 6:17
  20. The editors of Molecular Cytogenetics would like to thank all our reviewers who have contributed to the journal in volume 5 (2012).

    Authors: Thomas Liehr, Henry Heng and Yuri Yurov
    Citation: Molecular Cytogenetics 2013 6:9
  21. Array CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and is now recommended as a first line test in place of G-banded chromosome analysis. At our centre, first line te...

    Authors: Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall and Caroline Mackie Ogilvie
    Citation: Molecular Cytogenetics 2013 6:16
  22. Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the ...

    Authors: Toshiyuki Yamamoto, Mari Matsuo, Shino Shimada, Noriko Sangu, Keiko Shimojima, Seijiro Aso and Kayoko Saito
    Citation: Molecular Cytogenetics 2013 6:15
  23. Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we...

    Authors: 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…
    Citation: Molecular Cytogenetics 2013 6:14
  24. Nowadays, the genus Bryconamericus is placed in subfamily Stevardiinae within of Characidae, but not shows consistent evidence of monophyletism. The purpose of this work was to study the chromosomes of three spec...

    Authors: Diovani Piscor, Daniela Bocagini Ribacinko-Piscor, Carlos Alexandre Fernandes and Patricia Pasquali Parise-Maltempi
    Citation: Molecular Cytogenetics 2013 6:13
  25. Despite the theoretical and experimental progress, our understanding on sex chromosome differentiation is still diagrammatic. The accumulation of repetitive DNA sequences is believed to occur in early stages o...

    Authors: Dongdong Xu, Bao Lou, Luiz Antonio Carlos Bertollo and Marcelo de Bello Cioffi
    Citation: Molecular Cytogenetics 2013 6:12
  26. Karyotyping is considered the gold standard for the genome-wide detection of genomic imbalances in prenatal diagnosis, but it has a number of inherent limitations, namely the time required to culture cell and ...

    Authors: Qingwei Qi, Xiya Zhou, Yulin Jiang, Na Hao, Jing Zhou and Liang Zhang
    Citation: Molecular Cytogenetics 2013 6:11
  27. The ultimate goal of human genetics is to understand the role of genome variation in elucidating human traits and diseases. Besides single nucleotide polymorphism (SNP), copy number variation (CNV), defined as...

    Authors: Hoh BoonPeng and Khalid Yusoff
    Citation: Molecular Cytogenetics 2013 6:8
  28. Array based comparative genomic hybridization (arrayCGH) has been increasingly used as the method of choice for diagnosis of patients with unexplained developmental delay/intellectual disability (DD/ID) but is...

    Authors: Leona Morozin Pohovski, Katja K Dumic, Ljubica Odak and Ingeborg Barisic
    Citation: Molecular Cytogenetics 2013 6:7
  29. The multicolor banding (MCB/mBAND) technique provides a unique opportunity to characterize intrachromosomal rearrangements and to determine chromosomal breakpoints. Until recently, MCB probes have only been av...

    Authors: Nadezda Kosyakova, Ahmed Basheer Hamid, Arunrat Chaveerach, Krit Pinthong, Pornnarong Siripiyasing, Weerayuth Supiwong, Svetlana Romanenko, Vladimir Trifonov and Xiaobo Fan
    Citation: Molecular Cytogenetics 2013 6:6
  30. The t(8;14)(q24.1;q32), the cytogenetic hallmark of Burkitt’s lymphoma, is also found, but rarely, in cases of chronic lymphocytic leukemia (CLL). Such translocation typically results in a MYC-IGH@ fusion subsequ...

    Authors: Ina Amarillo, Peter H Bui, Sibel Kantarci, Nagesh Rao, Brit S Shackley, Rolando García and Carlos A Tirado
    Citation: Molecular Cytogenetics 2013 6:5
  31. The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far.

    Authors: Daniela Di Benedetto, Giuseppa Di Vita, Corrado Romano, Mariangela Lo Giudice, Girolamo Aurelio Vitello, Marinella Zingale, Lucia Grillo, Lucia Castiglia, Sebastiano Antonino Musumeci and Marco Fichera
    Citation: Molecular Cytogenetics 2013 6:4
  32. Obtaining a germ cell line is one of the most important steps in developing a transgenic or knockout mouse with a targeted mutated gene of interest. A common problem with this technology is that embryonic stem...

    Authors: Young Mi Kim, Ji-Yun Lee, Lijun Xia, John J Mulvihill and Shibo Li
    Citation: Molecular Cytogenetics 2013 6:3
  33. The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and genetic factors. Chromosomal aberrations are common ca...

    Authors: Karla de Oliveira Pelegrino, Sofia Sugayama, Ana Lúcia Catelani, Karina Lezirovitz, Fernando Kok and Maria de Lourdes Chauffaille
    Citation: Molecular Cytogenetics 2013 6:2
  34. Errors during meiosis that affect synapsis and recombination between homologous chromosomes contribute to aneuploidy and infertility in humans. Despite the clinical relevance of these defects, we know very lit...

    Authors: Matthew E Johnson, Ross A Rowsey, Sofia Shirley, Catherine VandeVoort, Jeffrey Bailey and Terry Hassold
    Citation: Molecular Cytogenetics 2013 6:1
  35. Array comparative genomic hybridization (CGH) has been repeatedly shown to be a successful tool for the identification of genomic variations in a clinical population. During the last decade, the implementation...

    Authors: Ivan Y Iourov, Svetlana G Vorsanova, Oxana S Kurinnaia, Maria A Zelenova, Alexandra P Silvanovich and Yuri B Yurov
    Citation: Molecular Cytogenetics 2012 5:46
  36. Members of the Anostomidae family provide an interesting model system for the study of the influence of repetitive elements on genome composition, mainly because they possess numerous heterochromatic segments ...

    Authors: Edson Lourenço da Silva, Rafael Splendore de Borba and Patrícia Pasquali Parise-Maltempi
    Citation: Molecular Cytogenetics 2012 5:45
  37. Anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangements have been reported in 2-13% of patients with non-small cell lung cancer (NSCLC). Patients with ALK rearrangements do not respond to EGFR-spec...

    Authors: 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 and Philip N Mowrey
    Citation: Molecular Cytogenetics 2012 5:44
  38. Barrett’s esophagus (BE) is an asymptomatic, pre-malignant condition of the esophagus that can progress to esophageal adenocarcinoma (EAC). BE arises typically in individuals with long-standing gastroesophagea...

    Authors: Manisha Bajpai, Hana Aviv and Kiron M Das
    Citation: Molecular Cytogenetics 2012 5:43
  39. Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes. We are interested to study the genetic aberration in precursor B-cell ALL with specific t(12;2...

    Authors: 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 and Raudhawati Osman
    Citation: Molecular Cytogenetics 2012 5:41
  40. Chromosomal rearrangements of band 19q13.4 are frequent cytogenetic alterations in benign thyroid adenomas. Apparently, these alterations lead to the upregulation of genes encoding microRNAs of two clusters ma...

    Authors: Volkhard Rippe, Inga Flor, Johannes Wolfram Debler, Norbert Drieschner, Birgit Rommel, Daniel Krause, Klaus Junker and Jörn Bullerdiek
    Citation: Molecular Cytogenetics 2012 5:40
  41. Chromosome changes in the bone marrow (BM) of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS). Comprehensive cytogenetic evaluations may give evidence of...

    Authors: Cristina Marletta, Roberto Valli, Barbara Pressato, Lydia Mare, Giuseppe Montalbano, Giuseppe Menna, Giuseppe Loffredo, Maria Ester Bernardo, Luciana Vinti, Simona Ferrari, Alessandra Di Cesare-Merlone, Marco Zecca, Francesco Lo Curto, Franco Locatelli, Francesco Pasquali and Emanuela Maserati
    Citation: Molecular Cytogenetics 2012 5:39
  42. To describe the diagnostic performance of array comparative genomic hybridization (aCGH) as a potential first line diagnostic method in first trimester high risk pregnancies.

    Authors: Isabel Filges, Anjeung Kang, Vanessa Klug, Friedel Wenzel, Karl Heinimann, Sevgi Tercanli and Peter Miny
    Citation: Molecular Cytogenetics 2012 5:38
  43. Rodents have been reported to contain large arrays of interstitial telomeric sequences (TTAGGG)n (ITS) located in pericentromeric heterochromatin. The relative sizes of telomeric sequences at the ends of chrom...

    Authors: Liudmila V Solovjeva, Sergey Ju Demin, Nadezhda M Pleskach, Maria O Kuznetsova and Maria P Svetlova
    Citation: Molecular Cytogenetics 2012 5:37

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