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Page 14 of 18

  1. The aim of this study was to evaluate the best diagnostic approach for the genetic analysis of samples from first, second and third trimester intrauterine fetal deaths (IUFDs). We examined a total of 417 IUFD ...

    Authors: Angelique JA Kooper, Brigitte HW Faas, Ilse Feenstra, Nicole de Leeuw and Dominique FCM Smeets

    Citation: Molecular Cytogenetics 2014 7:6

    Content type: Research

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  2. Oral and oropharyngeal squamous cell carcinomas (OSCC) are among the most common cancers. The poor survival rate among oral cancer patients can be attributed to several factors, one of them being lack of early...

    Authors: Nadja Kokalj Vokač, Bogdan Čizmarević, Andreja Zagorac, Boris Zagradišnik and Boštjan Lanišnik

    Citation: Molecular Cytogenetics 2014 7:5

    Content type: Methodology

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  3. Microarray analysis has been used as the first-tier genetic testing to detect chromosomal imbalances and copy number variants (CNVs) for pediatric patients with intellectual and developmental disabilities (ID/...

    Authors: Fang Xu, Lun Li, Vincent P Schulz, Patrick G Gallagher, Bixia Xiang, Hongyu Zhao and Peining Li

    Citation: Molecular Cytogenetics 2014 7:4

    Content type: Research

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  4. Characteristic genomic abnormalities in patients with B cell chronic lymphocytic leukemia (CLL) have been shown to provide important prognostic information. Fluorescence in situ hybridization (FISH) and multiplex...

    Authors: Marian JPL Stevens-Kroef, Eva van den Berg, Daniel Olde Weghuis, Ad Geurts van Kessel, Rolph Pfundt, Matty Linssen-Wiersma, Marloes Benjamins, Trijnie Dijkhuizen, Patricia JTA Groenen and Annet Simons

    Citation: Molecular Cytogenetics 2014 7:3

    Content type: Research

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  5. Pediatric oligodendrogliomas are rare and appear to show a different molecular profile from adult tumors. Some gliomas display allelic losses at 1p/19q in pediatric patients, although less frequently than in a...

    Authors: Miguel Torres-Martín, Carolina Peña-Granero, Fernando Carceller, Manuel Gutiérrez, Rommel R Burbano, Giovanny R Pinto, Javier S Castresana, Bárbara Melendez and Juan A Rey

    Citation: Molecular Cytogenetics 2014 7:1

    Content type: Case report

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  6. One of the frequent reasons for unsuccessful conception is premature ovarian failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional follicles below the age of 40 years. Among...

    Authors: Artur Beke, Henriett Piko, Iren Haltrich, Judit Csomor, Andras Matolcsy, György Fekete, Janos Rigo and Veronika Karcagi

    Citation: Molecular Cytogenetics 2013 6:62

    Content type: Case report

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  7. Chromosomes have territories, or preferred locales, in the cell nucleus. When these sites are taken into account, some large-scale structure of the human genome emerges.

    Authors: Christopher Cherniak and Raul Rodriguez-Esteban

    Citation: Molecular Cytogenetics 2013 6:61

    Content type: Research

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  8. The infraorder Gekkota is intriguing because it contains multiple chromosomal and environmental sex determination systems that vary even among closely related taxa. Here, we compare male and females karyotypes...

    Authors: Kazumi Matsubara, Theresa Knopp, Stephen D Sarre, Arthur Georges and Tariq Ezaz

    Citation: Molecular Cytogenetics 2013 6:60

    Content type: Research

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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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

    Published on:

  28. 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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  29. 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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