Skip to main content

Articles

Page 6 of 22

  1. This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromoso...

    Authors: Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang and Luming Wang
    Citation: Molecular Cytogenetics 2019 12:9
  2. Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of interna...

    Authors: Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Luo, Luming Yang, Yufang Zheng and Hongyan Wang
    Citation: Molecular Cytogenetics 2019 12:8
  3. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 r...

    Authors: Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao and Aihua Yin
    Citation: Molecular Cytogenetics 2019 12:7
  4. Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The ai...

    Authors: Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad and Soumaya Mougou-Zerelli
    Citation: Molecular Cytogenetics 2019 12:5
  5. In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby...

    Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov
    Citation: Molecular Cytogenetics 2019 12:4
  6. Nodal marginal zone B-cell lymphoma is a rare entity in which the cytogenetic findings are not well defined. The t(2;14)(p24;q32) has previously been reported in three patients with blastic mantle cell lymphom...

    Authors: Angela Brown, Isabella Sciascia-Visani, Dianna Farrell, Meg Smith, Clive Felix, Vanaja Mutharajah, Jackie Ruell and Graeme Taylor
    Citation: Molecular Cytogenetics 2019 12:3
  7. The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, general...

    Authors: María Paulina Nava-Rodríguez, Martín Daniel Domínguez-Cruz, Lilia Beatriz Aguilar-López, César Borjas-Gutiérrez, María Teresa Magaña-Torres and Juan Ramón González-García
    Citation: Molecular Cytogenetics 2019 12:2
  8. Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosin...

    Authors: Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li and Aihua Yin
    Citation: Molecular Cytogenetics 2019 12:1
  9. The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced in vitro is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chr...

    Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Carmelita Alecci and Antonino Guglielmino
    Citation: Molecular Cytogenetics 2018 11:63
  10. Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without ...

    Authors: Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind and Iris Bartels
    Citation: Molecular Cytogenetics 2018 11:62
  11. Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking ...

    Authors: Elizabeth R. Kerr, Gary M. Stuhlmiller, George C. Maha, Mark A. Ladd, Fady M. Mikhail, Ruth P. Koester and Anna C. E. Hurst
    Citation: Molecular Cytogenetics 2018 11:60
  12. Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false po...

    Authors: Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen, Yixi Sun, Kai Yan, Yanmei Yang, Bei Liu, Liya Wang, Yingzhi Huang, Junjie Hu, Jianyun Xu and Minyue Dong
    Citation: Molecular Cytogenetics 2018 11:59
  13. This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior pre...

    Authors: Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu and Hua Cao
    Citation: Molecular Cytogenetics 2018 11:58
  14. Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Dup...

    Authors: A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid and M. S. Zaki
    Citation: Molecular Cytogenetics 2018 11:57
  15. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations ass...

    Authors: Vanessa Fiorini Furtado, Neeraj Y. Saini, William Walsh, Venu Bathini and Patricia M. Miron
    Citation: Molecular Cytogenetics 2018 11:56
  16. Deletions involving the long arm of chromosome 18 have been associated with a highly variable phenotypic spectrum that is related to the extent of the deleted region. Duplications in chromosomal region 4p16.3 ...

    Authors: Chunjing Wang, Huanhuan Ren, Huaifu Dong, Meng Liang, Qi Wu and Yaping Liao
    Citation: Molecular Cytogenetics 2018 11:55
  17. Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeleti...

    Authors: Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan and Murat Erdogan
    Citation: Molecular Cytogenetics 2018 11:54
  18. The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retard...

    Authors: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo and Palma Finelli
    Citation: Molecular Cytogenetics 2018 11:53
  19. Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis.

    Authors: Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano and Gaia Roversi
    Citation: Molecular Cytogenetics 2018 11:52
  20. Polyploidy, although still poorly explored, represents an important evolutionary event in several cyprinid clades. Herein, Catlocarpio siamensis and Probarbus jullieni - representatives of the paleotetraploid tri...

    Authors: Pasakorn Saenjundaeng, Marcelo de Bello Cioffi, Ezequiel Aguiar de Oliveira, Alongklod Tanomtong, Weerayuth Supiwong, Sumalee Phimphan, Maria João Collares-Pereira, Alexandr Sember, Luiz Antonio Carlos Bertollo, Thomas Liehr, Cassia Fernanda Yano, Terumi Hatanaka and Petr Ráb
    Citation: Molecular Cytogenetics 2018 11:51
  21. Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural al...

    Authors: Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono and Ann M. Joseph-George
    Citation: Molecular Cytogenetics 2018 11:50
  22. Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not...

    Authors: Yuan Tian, Linlin Zhang, Weifang Tian, Jinshuang Gao, Liting Jia and Shihong Cui
    Citation: Molecular Cytogenetics 2018 11:49
  23. Recombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome we...

    Authors: Yi Wu, Yanlin Wang, Shi Wu Wen, Xinrong Zhao, Wenjing Hu, Chunmin Liu, Li Gao, Yan Zhang, Shan Wang, Xingyu Yang, Biwei He and Weiwei Cheng
    Citation: Molecular Cytogenetics 2018 11:48
  24. Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but the...

    Authors: Jiexia Yang, Yiming Qi, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, O. Y. Haoxin, Yixia Wang, Huajie Huang and Aihua Yin
    Citation: Molecular Cytogenetics 2018 11:47
  25. Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically...

    Authors: Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu and Seher Basaran
    Citation: Molecular Cytogenetics 2018 11:45
  26. Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and som...

    Authors: Xiangyu Zhu, Jie Li, Yujie Zhu, Wanjun Wang, Xing Wu, Ying Yang, Leilei Gu, Yuanyuan Gu and Yali Hu
    Citation: Molecular Cytogenetics 2018 11:44
  27. The clinical features of Down syndrome vary among individuals, with those most common being congenital heart disease, intellectual disability, developmental abnormity and dysmorphic features. Complex combinati...

    Authors: Wenfu Li, Xianfu Wang and Shibo Li
    Citation: Molecular Cytogenetics 2018 11:42
  28. Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes.

    Authors: Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin and Yao-Shan Fan
    Citation: Molecular Cytogenetics 2018 11:43
  29. Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear. This study aims to find ou...

    Authors: Haibo Li, Minjuan Liu, Min Xie, Qin Zhang, Jingjing Xiang, Chengying Duan, Yang Ding, Yinghua Liu, Jun Mao, Ting Wang and Hong Li
    Citation: Molecular Cytogenetics 2018 11:41
  30. Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, ch...

    Authors: Viviane Lamim Lovatel, Daiane Corrêa de Souza, Tatiana Fonseca Alvarenga, Roberto R. Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay and Teresa de Souza Fernandez
    Citation: Molecular Cytogenetics 2018 11:40
  31. Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features wer...

    Authors: Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor and Borut Peterlin
    Citation: Molecular Cytogenetics 2018 11:39
  32. In the original publication of this article [1] the figures and the captions of 3 figures do not match correctly due to a typographical error. In this correction article the corrected figures and captions for ...

    Authors: Robert M. Hoffman
    Citation: Molecular Cytogenetics 2018 11:38

    The original article was published in Molecular Cytogenetics 2017 10:11

  33. Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing att...

    Authors: Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang and Hai-Liang Liu
    Citation: Molecular Cytogenetics 2018 11:37
  34. Interspecific hybridization is an effective strategy for germplasm innovation in sugarcane. Nobilization refers to the breeding theory of development and utilization of wild germplasm. Saccharum spontaneum is the...

    Authors: Fan Yu, Ping Wang, Xueting Li, Yongji Huang, Qinnan Wang, Ling Luo, Yanfen Jing, Xinlong Liu, Zuhu Deng, Jiayun Wu, Yongqing Yang, Rukai Chen, Muqing Zhang and Liangnian Xu
    Citation: Molecular Cytogenetics 2018 11:35
  35. Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.

    Authors: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup and Carolina Sismani
    Citation: Molecular Cytogenetics 2018 11:34
  36. Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18–32 weeks.

    Authors: Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu, Yan Hong Yu and Fang Yang
    Citation: Molecular Cytogenetics 2018 11:33
  37. Detailed karyotyping using metaphase chromosomes in melon (Cucumis melo L.) remains a challenge because of their small chromosome sizes and poor stainability. Prometaphase chromosomes, which are two times longer ...

    Authors: Agus Budi Setiawan, Chee How Teo, Shinji Kikuchi, Hidenori Sassa and Takato Koba
    Citation: Molecular Cytogenetics 2018 11:32
  38. In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g. yeast ...

    Authors: Christine J. Ye, Sarah Regan, Guo Liu, Sarah Alemara and Henry H. Heng
    Citation: Molecular Cytogenetics 2018 11:31
  39. In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400–500-band karyotyping i...

    Authors: Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch and Sara Frías
    Citation: Molecular Cytogenetics 2018 11:30
  40. With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific...

    Authors: Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek and Marketa Vlckova
    Citation: Molecular Cytogenetics 2018 11:29
  41. A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,...

    Authors: Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap and Nanis S. Marzuki
    Citation: Molecular Cytogenetics 2018 11:28
  42. Thinopyrum ponticum (2n = 10× = 70, JSJSJSJSJJJJJJ) is an important wild perennial Triticeae species that has a unique gene pool with many desirable traits for common wheat. The partial amphiploids derived from w...

    Authors: Yanru Pei, Yu Cui, Yanping Zhang, Honggang Wang, Yinguang Bao and Xingfeng Li
    Citation: Molecular Cytogenetics 2018 11:27
  43. Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation.

    Authors: Anna A. Kashevarova, Elena O. Belyaeva, Aleksandr M. Nikonov, Olga V. Plotnikova, Nikolay A. Skryabin, Tatyana V. Nikitina, Stanislav A. Vasilyev, Yulia S. Yakovleva, Nadezda P. Babushkina, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Renata R. Savchenko, Lyudmila P. Nazarenko and Igor N. Lebedev
    Citation: Molecular Cytogenetics 2018 11:26
  44. In the original publication [1] the author names were in the wrong order. The correct version can be found in this Erratum. The original article has been updated to rectify this error.

    Authors: Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai and Yi Liu
    Citation: Molecular Cytogenetics 2018 11:25

    The original article was published in Molecular Cytogenetics 2018 11:18

  45. 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the ...

    Authors: Aixiang Luo, Dehua Cheng, Shimin Yuan, Haiyu Li, Juan Du, Yang Zhang, Chuanchun Yang, Ge Lin, Wenyong Zhang and Yue-Qiu Tan
    Citation: Molecular Cytogenetics 2018 11:24
  46. Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype cor...

    Authors: Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware and Benjamin M. Helm
    Citation: Molecular Cytogenetics 2018 11:23

Annual Journal Metrics

  • 2022 Citation Impact
    1.3 - 2-year Impact Factor
    1.7 - 5-year Impact Factor
    0.662 - SNIP (Source Normalized Impact per Paper)
    0.443 - SJR (SCImago Journal Rank)

    2023 Speed
    5 days submission to first editorial decision for all manuscripts (Median)
    98 days submission to accept (Median)

    2023 Usage 
    674,165 downloads
    75 Altmetric mentions