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  1. Myelofibrosis occurs as primary myelofibrosis or as a late occurrence in the evolution of essential thrombocythaemia and polycythaemia vera. It is the rarest of the three classic myeloproliferative neoplasms (...

    Authors: Nisha R Singh, Christine M Morris, Mary Koleth, Kelly Wong, Christopher M Ward and William S Stevenson

    Citation: Molecular Cytogenetics 2013 6:59

    Content type: Research

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  2. The chromosomal homologies of human (Homo sapiens = HSA) and silvered leaf monkey (Trachypithecus cristatus = TCR) have been previously studied by classical chromosome staining and by fluorescence in situ hybridi...

    Authors: Fan Xiaobo, Krit Pinthong, Hasmik Mkrtchyan, Pornnarong Siripiyasing, Nadezda Kosyakova, Weerayuth Supiwong, Alongkoad Tanomtong, Arunrat Chaveerach, Thomas Liehr, Marcelo de Bello Cioffi and Anja Weise

    Citation: Molecular Cytogenetics 2013 6:58

    Content type: Research

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  3. The promise to understand cancer and develop efficacious therapies by sequencing thousands of cancers has not occurred. Mutations in specific genes termed oncogenes and tumor suppressor genes are extremely het...

    Authors: Joshua M Nicholson

    Citation: Molecular Cytogenetics 2013 6:57

    Content type: Commentary

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  4. An interstitial deletion of the long arms of chromosome 20, del(20)(q), is frequent in the bone marrow (BM) of patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and myeloproliferativ...

    Authors: Roberto Valli, Barbara Pressato, Cristina Marletta, Lydia Mare, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali and Emanuela Maserati

    Citation: Molecular Cytogenetics 2013 6:56

    Content type: Research

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  5. With the aim to increase the knowledge on the evolution of coleopteran genomes, we investigated through cytogenetics and nucleotide sequence analysis Mariner transposons in three Scarabaeinae species (Coprophanae...

    Authors: Sarah G Oliveira, Diogo C Cabral-de-Mello, Rita C Moura and Cesar Martins

    Citation: Molecular Cytogenetics 2013 6:54

    Content type: Research

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  6. Rett syndrome (RTT) is an X-linked neurodevelopmental disease affecting predominantly females caused by MECP2 mutations. Although RTT is classically considered a monogenic disease, a stable proportion of patients...

    Authors: Ivan Y Iourov, Svetlana G Vorsanova, Victoria Y Voinova, Oxana S Kurinnaia, Maria A Zelenova, Irina A Demidova and Yuri B Yurov

    Citation: Molecular Cytogenetics 2013 6:53

    Content type: Research

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  7. Interstitial deletions affecting the proximal long arm of chromosome 3 have been rarely reported in the literature. The deleted segments vary in localization and size with different breakpoints making genotype...

    Authors: Stefania Gimelli, Massimiliano Leoni, Maja Di Rocco, Gianluca Caridi, Simona Porta, Cristina Cuoco, Giorgio Gimelli and Elisa Tassano

    Citation: Molecular Cytogenetics 2013 6:52

    Content type: Case report

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  8. In the present study, conventional and molecular cytogenetic studies were performed in the naked catfish Mystus bocourti (Siluriformes, Bagridae). Besides the conventional Giemsa staining, fluorescence in situ hy...

    Authors: Weerayuth Supiwong, Thomas Liehr, Marcelo B Cioffi, Arunrat Chaveerach, Nadezda Kosyakova, Krit Pinthong, Tawatchai Tanee and Alongklod Tanomtong

    Citation: Molecular Cytogenetics 2013 6:51

    Content type: Research

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  9. Myxoid liposarcoma is a mesenchymal malignancy most commonly presenting in young adults. This tumor is known for its characteristic chromosomal rearrangement at the DDIT3 locus.

    Authors: Brandon S Sheffield and Torsten O Nielsen

    Citation: Molecular Cytogenetics 2013 6:50

    Content type: Case report

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  10. A novel multiple congenital anomalies syndrome has been recently identified in four patients carrying a 8q12 microduplication sharing the smallest region of overlap (SRO, size 1.6 Mb) including five genes CA8, AS...

    Authors: Anna Baroncini, Sara Bertuzzo, Rita Quarantini, Paolo Ricciardelli, Roberto Giorda and Maria Clara Bonaglia

    Citation: Molecular Cytogenetics 2013 6:49

    Content type: Case report

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  11. B chromosomes, also known as supernumerary or accessory chromosomes, are additional chromosomes over the standard complement found in various groups of plants and animals. We investigated the presence of, and ...

    Authors: Luana Pereira dos Santos, Jonathan Pena Castro, Carine Mendonça Francisco, Marcelo Ricardo Vicari, Mara Cristina de Almeida, Leonardo Gusso Goll, Sandra Morelli and Roberto Ferreira Artoni

    Citation: Molecular Cytogenetics 2013 6:48

    Content type: Short report

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  12. The 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible...

    Authors: Emmanouil Manolakos, Konstantinos Kefalas, Annalisa Vetro, Eirini Oikonomidou, George Daskalakis, Natasa Psara, Elisa Siomou, Elena Papageorgiou, Eirini Sevastopoulou, Anastasia Konstantinidou, Nikolaos Vrachnis, Loretta Thomaidis, Orsetta Zuffardi and Ioannis Papoulidis

    Citation: Molecular Cytogenetics 2013 6:47

    Content type: Research

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  13. Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best k...

    Authors: Thomas Liehr, Sanja Cirkovic, Tanja Lalic, Marija Guc-Scekic, Cynthia de Almeida, Jörg Weimer, Ivan Iourov, Maria Isabel Melaragno, Roberta S Guilherme, Eunice-Georgia G Stefanou, Dilek Aktas, Katharina Kreskowski, Elisabeth Klein, Monika Ziegler, Nadezda Kosyakova, Marianne Volleth…

    Citation: Molecular Cytogenetics 2013 6:46

    Content type: Research

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  14. Small supernumerary marker chromosomes (sSMCs) are additional, structurally abnormal chromosomes, generally smaller than chromosome 20 of the same metaphase spread. Due to their small size, they are difficult ...

    Authors: Chiara Castronovo, Emanuele Valtorta, Milena Crippa, Sara Tedoldi, Lorenza Romitti, Maria Cristina Amione, Silvana Guerneri, Daniela Rusconi, Lucia Ballarati, Donatella Milani, Enrico Grosso, Pietro Cavalli, Daniela Giardino, Maria Teresa Bonati, Lidia Larizza and Palma Finelli

    Citation: Molecular Cytogenetics 2013 6:45

    Content type: Research

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  15. In 1952 Papanicolaou et al. first diagnosed and graded cervical carcinomas based on individual “abnormal DNA contents” and cellular phenotypes. Surprisingly current papilloma virus and mutation theories of car...

    Authors: Amanda McCormack, Jiang Lan Fan, Max Duesberg, Mathew Bloomfield, Christian Fiala and Peter Duesberg

    Citation: Molecular Cytogenetics 2013 6:44

    Content type: Research

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  16. MYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations an...

    Authors: Beata S Lipska, Magdalena Koczkowska, Jolanta Wierzba, Anna Ploszynska, Mariola Iliszko, Ewa Izycka-Swieszewska, Elzbieta Adamkiewicz-Drozynska and Janusz Limon

    Citation: Molecular Cytogenetics 2013 6:43

    Content type: Research

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  17. Grasshoppers from the Romaleidae family are well distributed in the Neotropical Region and represent a diversified and multicolored group in which the karyotype is conserved. Few studies have been conducted to...

    Authors: Marcos S Regueira Neto, Maria José de Souza and Vilma Loreto

    Citation: Molecular Cytogenetics 2013 6:41

    Content type: Research

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  18. 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

    Content type: Case report

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  19. 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

    Content type: Case report

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  20. 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

    Content type: Research

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  21. 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

    Content type: Short report

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  22. 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

    Content type: Case report

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  23. 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

    Content type: Case report

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  24. 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

    Content type: Case report

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  25. 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

    Content type: Case report

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  26. 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

    Content type: Research

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  27. 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

    Content type: Case report

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  28. 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

    Content type: Research

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  29. 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

    Content type: Case report

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  30. 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

    Content type: Case report

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  31. 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

    Content type: Research

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  32. 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

    Content type: Short report

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  33. 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

    Content type: Short report

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  34. 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

    Content type: Research

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  35. 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

    Content type: Case report

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  36. 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

    Content type: Research

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  37. 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

    Content type: Reviewer Acknowledgement

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  38. 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

    Content type: Short report

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  39. 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

    Content type: Case report

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  40. 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

    Content type: Research

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  41. 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

    Content type: Research

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  42. 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

    Content type: Research

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  43. 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

    Content type: Case report

    Published on:

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