Skip to main content

Articles

Page 17 of 20

  1. 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

    Content type: Research

    Published on:

  2. 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

    Content type: Research

    Published on:

  3. 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

    Content type: Case report

    Published on:

  4. 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

    Content type: Research

    Published on:

  5. 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

    Content type: Research

    Published on:

  6. 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

    Content type: Research

    Published on:

  7. 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

    Content type: Research

    Published on:

  8. 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

    Content type: Research

    Published on:

  9. 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

    Content type: Research

    Published on:

  10. 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

    Content type: Research

    Published on:

  11. 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

    Content type: Research

    Published on:

  12. 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

    Content type: Research

    Published on:

  13. 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

    Content type: Research

    Published on:

  14. The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5′ part of the BCR gene on chromosome 22 to the 3′ part of the...

    Authors: Walid Al-achkar, Abdulsamad Wafa, Faten Moassass and Moneeb Abdullah Kassem Othman

    Citation: Molecular Cytogenetics 2012 5:36

    Content type: Case report

    Published on:

  15. Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesia...

    Authors: Chrysantine Paramayuda, Hannie Kartapradja, Debby D Ambarwati, Helena W Anggaratri, Lita P Suciati, Nanis S Marzuki and Alida Harahap

    Citation: Molecular Cytogenetics 2012 5:35

    Content type: Case report

    Published on:

  16. Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic ana...

    Authors: Jinsong Gao, Congcong Liu, Fengxia Yao, Na Hao, Jing Zhou, Qian Zhou, Liang Zhang, Xinyan Liu, Xuming Bian and Juntao Liu

    Citation: Molecular Cytogenetics 2012 5:33

    Content type: Research

    Published on:

  17. The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal abe...

    Authors: Simona Baronchelli, Nicoletta Villa, Serena Redaelli, Sara Lissoni, Fabiana Saccheri, Elena Panzeri, Donatella Conconi, Angela Bentivegna, Francesca Crosti, Elena Sala, Francesca Bertola, Anna Marozzi, Antonio Pedicini, Marialuisa Ventruto, Maria Adalgisa Police and Leda Dalprà

    Citation: Molecular Cytogenetics 2012 5:32

    Content type: Research

    Published on:

  18. Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes. We present clinical, cytogenetic, and molecular finding...

    Authors: Daniel L Di Bartolo, Mohamed El Naggar, Renius Owen, Trilochan Sahoo, Fred Gilbert, Venkat R Pulijaal and Susan Mathew

    Citation: Molecular Cytogenetics 2012 5:31

    Content type: Case report

    Published on:

  19. Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller...

    Authors: Milene Vianna Mulatinho, Cassio Luiz de Carvalho Serao, Fernanda Scalco, David Hardekopf, Sona Pekova, Kristin Mrasek, Thomas Liehr, Anja Weise, Nagesh Rao and Juan Clinton Llerena Jr

    Citation: Molecular Cytogenetics 2012 5:30

    Content type: Case report

    Published on:

  20. Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocent...

    Authors: Morteza Hemmat, Boris T Wang, Peter E Warburton, Xiaojing Yang, Fatih Z Boyar, Mohammed El Naggar and Arturo Anguiano

    Citation: Molecular Cytogenetics 2012 5:29

    Content type: Research

    Published on:

  21. Despite substantial progress, there are still several gaps in our knowledge about the process of sex chromosome differentiation. The degeneration of sex-specific chromosome in some species is well documented, ...

    Authors: Marcelo de Bello Cioffi, Eduard Kejnovský, Vinicius Marquioni, Juliana Poltronieri, Wagner Franco Molina, Débora Diniz and Luiz Antonio Carlos Bertollo

    Citation: Molecular Cytogenetics 2012 5:28

    Content type: Research

    Published on:

    The Erratum to this article has been published in Molecular Cytogenetics 2012 5:42

  22. Undifferentiated embryonal sarcoma of the liver (UESL) represents a heterogeneous group of tumors derived from mesenchymal tissues. Earlier cytogenetic studies in limited cases demonstrated that UESL is associ...

    Authors: Xiaoxia Hu, Haiying Chen, Meishan Jin, Xianfu Wang, Jiyun Lee, Weihong Xu, Rui Zhang, Shibo Li and Junqi Niu

    Citation: Molecular Cytogenetics 2012 5:26

    Content type: Case report

    Published on:

  23. Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q...

    Authors: Susana Isabel Ferreira, Eunice Matoso, Margarida Venâncio, Jorge Saraiva, Joana B Melo and Isabel Marques Carreira

    Citation: Molecular Cytogenetics 2012 5:25

    Content type: Case report

    Published on:

  24. Single embryo transfer (SET) remains underutilized as a strategy to reduce multiple gestation risk in IVF, and its overall lower pregnancy rate underscores the need for improved techniques to select one embryo...

    Authors: Zhihong Yang, Jiaen Liu, Gary S Collins, Shala A Salem, Xiaohong Liu, Sarah S Lyle, Alison C Peck, E Scott Sills and Rifaat D Salem

    Citation: Molecular Cytogenetics 2012 5:24

    Content type: Methodology

    Published on:

  25. Translocation (9;22)(q34;q11.2) resulting in BCR/ABL1 fusion at the molecular level is the hallmark of chronic myelogenous leukemia (CML). Variants of the Philadelphia translocation and complex translocations ...

    Authors: Mohamed M Elnaggar, Sally Agersborg, Trilochan Sahoo, Ati Girgin, Wanlong Ma, Ronjay Rakkhit, Isabel Zorrilla and Alexis Leal

    Citation: Molecular Cytogenetics 2012 5:23

    Content type: Case report

    Published on:

  26. ZAP70 gene expression is associated with poor prognosis in B-cell lymphoproliferative disorders especially chronic lymphocytic leukaemia (CLL) but its role in adult B-ALL has not been established. On diagnostic s...

    Authors: Geothy Chakupurakal, Andrew Bell, Mike Griffiths, Farooq Wandroo and Paul Moss

    Citation: Molecular Cytogenetics 2012 5:22

    Content type: Short report

    Published on:

  27. About 5-10 % of chronic myelogenous leukemia (CML) patients show variant Philadelphia (Ph) translocations. The formation mechanisms and clinical significance of variant Ph translocations remain unclear. We rep...

    Authors: Sho Yokota, Yuichi Nakamura and Masami Bessho

    Citation: Molecular Cytogenetics 2012 5:20

    Content type: Case report

    Published on:

  28. Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found ...

    Authors: Caroline Robberecht, Thierry Voet, Gülen E Utine, Albert Schinzel, Nicole de Leeuw, Jean-Pierre Fryns and Joris Vermeesch

    Citation: Molecular Cytogenetics 2012 5:19

    Content type: Research

    Published on:

  29. Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic h...

    Authors: Patrícia BS Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Malgorzata MJ Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle S Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A Rosenfeld, Roger E Stevenson, Sung-Hae L Kang…

    Citation: Molecular Cytogenetics 2012 5:17

    Content type: Research

    Published on:

  30. The term "position effect" is used when the expression of a gene is deleteriously affected by an alteration in its chromosomal environment even though the integrity of the protein coding sequences is maintaine...

    Authors: Palma Finelli, Silvia Maria Sirchia, Maura Masciadri, Milena Crippa, Maria Paola Recalcati, Daniela Rusconi, Daniela Giardino, Laura Monti, Francesca Cogliati, Francesca Faravelli, Federica Natacci, Leonardo Zoccante, Bernardo Dalla Bernardina, Silvia Russo and Lidia Larizza

    Citation: Molecular Cytogenetics 2012 5:16

    Content type: Research

    Published on:

  31. Small supernumerary marker chromosomes (sSMC) are detected in 0.043% of general population and can be characterized for their chromosomal origin, genetic content and shape by molecular cytogenetic approaches. ...

    Authors: Elisabeth Klein, Marina Manvelyan, Isabella Simonyan, Ahmed B Hamid, Roberta Santos Guilherme, Thomas Liehr and Tatyana Karamysheva

    Citation: Molecular Cytogenetics 2012 5:15

    Content type: Research

    Published on:

  32. We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical...

    Authors: Malgorzata I Srebniak, Marjan Boter, Gretel O Oudesluijs, Titia Cohen-Overbeek, Lutgarde CP Govaerts, Karin EM Diderich, Renske Oegema, Maarten FCM Knapen, Ingrid MBH van de Laar, Marieke Joosten, Diane Van Opstal and Robert-Jan H Galjaard

    Citation: Molecular Cytogenetics 2012 5:14

    Content type: Short report

    Published on:

  33. We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin h...

    Authors: Ashutosh Halder, Manish Jain, Isha Chaudhary and Binuja Varma

    Citation: Molecular Cytogenetics 2012 5:13

    Content type: Case report

    Published on:

  34. Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribut...

    Authors: Stavros Sifakis, Emmanouil Manolakos, Annalisa Vetro, Dimitra Kappou, Panagiotis Peitsidis, Maria Kontodiou, Antonios Garas, Nikolaos Vrachnis, Anastasia Konstandinidou, Orsetta Zuffardi, Sandro Orru and Ioannis Papoulidis

    Citation: Molecular Cytogenetics 2012 5:12

    Content type: Case report

    Published on:

  35. Low-Copy Repeats predispose the 15q11-q13 region to non-allelic homologous recombination. We have already demonstrated that a significant percentage of Prader-Willi syndrome (PWS) fathers have an increased sus...

    Authors: Òscar Molina, Ester Anton, Francesca Vidal and Joan Blanco

    Citation: Molecular Cytogenetics 2012 5:11

    Content type: Research

    Published on:

  36. The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and ar...

    Authors: Ruth N MacKinnon, Carly Selan, Adrian Zordan, Meaghan Wall, Harshal Nandurkar and Lynda J Campbell

    Citation: Molecular Cytogenetics 2012 5:10

    Content type: Methodology

    Published on:

  37. Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been inv...

    Authors: Maryam Rafati, Elaheh Seyyedaboutorabi, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Gholam Reza Javadi, Jila Dastan, Alireza Mosavi-Jarrahi, Azadeh Hoseini, Marzieh Purhoseini and Saeed R Ghaffari

    Citation: Molecular Cytogenetics 2012 5:9

    Content type: Research

    Published on:

  38. Double aneuploidy mosaicism of two different aneuploidy cell lines is rare. We describe for the first time a double trisomy mosaicism, involving chromosomes 7 and 13 in a fetus presenting with multiple congeni...

    Authors: Karin Huijsdens-van Amsterdam, Daniela QCM Barge-Schaapveld, Inge B Mathijssen, Mariëlle Alders, Eva Pajkrt and Alida C Knegt

    Citation: Molecular Cytogenetics 2012 5:8

    Content type: Case report

    Published on:

  39. As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the ...

    Authors: Angelique JA Kooper, Jacqueline JPM Pieters, Brigitte HW Faas, Lies H Hoefsloot, Ineke van der Burgt, Hans A Zondervan and Arie PT Smits

    Citation: Molecular Cytogenetics 2012 5:7

    Content type: Research

    Published on:

  40. The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular ...

    Authors: Mileny ES Colovati, Luciana RJ da Silva, Sylvia S Takeno, Tatiane I Mancini, Ana R N Dutra, Roberta S Guilherme, Cláudia B de Mello, Maria I Melaragno and Ana B A Perez

    Citation: Molecular Cytogenetics 2012 5:5

    Content type: Case report

    Published on:

  41. Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive fami...

    Authors: Maryam Rafati, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Jila Dastan, Azadeh Hoseini, Marzieh Purhoseini and Saeed R Ghaffari

    Citation: Molecular Cytogenetics 2012 5:4

    Content type: Research

    Published on:

  42. Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analy...

    Authors: Arturo Anguiano, Boris T Wang, Shirong R Wang, Fatih Z Boyar, Loretta W Mahon, Mohamed M El Naggar, Peter H Kohn, Mary H Haddadin, Vladimira Sulcova, Adam H Sbeiti, Mervat S Ayad, Beverly J White and Charles M Strom

    Citation: Molecular Cytogenetics 2012 5:3

    Content type: Research

    Published on:

  43. A small percentage of all cases of schizophrenia have a childhood onset. The impact on the individual and family can be devastating. We report the results of genetic analyses from a patient with onset of visua...

    Authors: Sharon L Graw, Karen Swisshelm, Kirsten Floyd, Billie J Carstens, Marianne Z Wamboldt, Randall G Ross and Sherry Leonard

    Citation: Molecular Cytogenetics 2012 5:2

    Content type: Case report

    Published on:

  44. Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial d...

    Authors: Orazio Palumbo, Pietro Palumbo, Teresa Palladino, Raffaella Stallone, Leopoldo Zelante and Massimo Carella

    Citation: Molecular Cytogenetics 2012 5:1

    Content type: Case report

    Published on:

Annual Journal Metrics