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  1. Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases as...

    Authors: Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P. Patel, L. Jeffrey Medeiros, Pei Lin and Xinyan Lu

    Citation: Molecular Cytogenetics 2016 9:84

    Content type: Research

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  2. The gain of a second copy of the Philadelphia chromosome is one of the main secondary chromosomal changes related to the clonal evolution of cells with t(9;22) in chronic myelogenous leukemia. This gain causes...

    Authors: Cesar Borjas-Gutierrez and Juan Ramon Gonzalez-Garcia

    Citation: Molecular Cytogenetics 2016 9:83

    Content type: Letter to Editor

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  3. High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions we...

    Authors: Jia-Chi Wang, Loretta W. Mahon, Leslie P. Ross, Arturo Anguiano, Renius Owen and Fatih Z. Boyar

    Citation: Molecular Cytogenetics 2016 9:82

    Content type: Research

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  4. Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap c...

    Authors: Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, Susanna Esposito and Donatella Milani

    Citation: Molecular Cytogenetics 2016 9:80

    Content type: Case Report

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  5. Spontaneous abortion (SA) is the most common complication of pregnancy, and chromosome aberrations are the principal cause of the first trimester abortuses in natural conception (NC) The increasing use of assi...

    Authors: Tonghua Wu, Biao Yin, Yuanchang Zhu, Guangui Li, Lijun Ye, Chunmei Chen, Yong Zeng and Desheng Liang

    Citation: Molecular Cytogenetics 2016 9:79

    Content type: Research

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  6. Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype.

    Authors: Elisa Tassano, Mariasavina Severino, Silvia Rosina, Riccardo Papa, Domenico Tortora, Giorgio Gimelli, Cristina Cuoco and Paolo Picco

    Citation: Molecular Cytogenetics 2016 9:78

    Content type: Case Report

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  7. Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysm...

    Authors: Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos and Ioannis Papoulidis

    Citation: Molecular Cytogenetics 2016 9:77

    Content type: Case Report

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  8. Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also...

    Authors: Marcio Leyser, Bruno Leonardo Dias, Ana Luiza Coelho, Marcio Vasconcelos and Osvaldo J. M. Nascimento

    Citation: Molecular Cytogenetics 2016 9:75

    Content type: Case Report

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  9. 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysm...

    Authors: Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim and Hyung-Goo Kim

    Citation: Molecular Cytogenetics 2016 9:74

    Content type: Case Report

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  10. Cytogenetic studies were conducted in the Brazilian Amazon turtles, Podocnemis expansa Schweigger, 1912 (PEX) and Podocnemis unifilis Troschel, 1848 (PUN) to understand their karyoevolution. Their chromosomal com...

    Authors: R. C. R. Noronha, L. M. R. Barros, R. E. F. Araújo, D. F. Marques, C. Y. Nagamachi, C. Martins and J. C. Pieczarka

    Citation: Molecular Cytogenetics 2016 9:73

    Content type: Hypothesis

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  11. Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly.

    Authors: Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang and Zhi-Ping Tan

    Citation: Molecular Cytogenetics 2016 9:71

    Content type: Research

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  12. Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performe...

    Authors: Jelena Filipović, Gordana Joksić, Dragana Vujić, Ivana Joksić, Kristin Mrasek, Anja Weise and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:70

    Content type: Research

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  13. Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (...

    Authors: Malgorzata I. Srebniak, Merel C. de Wit, Karin E. M. Diderich, Lutgarde C. P. Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, Marnix J. Bos, Gerda A. G. Looye-Bruinsma, Mieke Koningen, Attie T. J. I. Go, Robert Jan H. Galjaard and Diane Van Opstal

    Citation: Molecular Cytogenetics 2016 9:69

    Content type: Research

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  14. Although Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are usually not aggressive, the type and the number of molecular lesions impact greatly on leukemic transformation. Indeed, the molecular ba...

    Authors: Tiziana Pierini, Danika Di Giacomo, Valentina Pierini, Paolo Gorello, Gianluca Barba, Anair Graciela Lema Fernandez, Fabrizia Pellanera, Tamara Iannotti, Franca Falzetti, Roberta La Starza and Cristina Mecucci

    Citation: Molecular Cytogenetics 2016 9:68

    Content type: Case Report

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  15. Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X...

    Authors: Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova and Kyra Michalova

    Citation: Molecular Cytogenetics 2016 9:67

    Content type: Case Report

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  16. Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases hav...

    Authors: Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:66

    Content type: Case Report

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  17. Cytogenetic abnormalities are important prognostic markers in plasma cell myeloma (PCM) and detection is routinely performed by interphase fluorescence in-situ hybridization (FISH) with a panel of probes after...

    Authors: Edmond S. K. Ma, Candy L. N. Wang, Anthony T. C. Wong, Gigi Choy and Tsun Leung Chan

    Citation: Molecular Cytogenetics 2016 9:63

    Content type: Methodology

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  18. Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneup...

    Authors: I. R. Hussein, A. Magbooli, E. Huwait, A. Chaudhary, R. Bader, M. Gari, F. Ashgan, M. Alquaiti, A. Abuzenadah and M. AlQahtani

    Citation: Molecular Cytogenetics 2016 9:65

    Content type: Research

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  19. Chromosomal microarray analysis (CMA) has been recommended and practiced routinely in the large reference laboratories of U.S.A. as the first-tier test for the postnatal evaluation of individuals with intellec...

    Authors: Jia-Chi Wang and Fatih Z. Boyar

    Citation: Molecular Cytogenetics 2016 9:64

    Content type: Letter to Editor

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  20. Sex chromosome loss (SCL), including loss of an X chromosome (-X) in females and loss of the Y chromosome (-Y) in males, resulting in a karyotype of 45,X, rarely occurs in patients post an allogeneic hematopoi...

    Authors: Zhenya Tang, L. Jeffrey Medeiros, C. Cameron Yin, Wei Wang, Xinyan Lu, Ken H. Young, Joseph D. Khoury and Guilin Tang

    Citation: Molecular Cytogenetics 2016 9:62

    Content type: Research

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  21. Marker chromosomes are small supernumerary chromosomes that cannot be unambiguously identified by chromosome banding techniques alone. However, the precise characterization of marker chromosomes is important f...

    Authors: Woori Jang, Hyojin Chae, Jiyeon Kim, Jung-Ok Son, Seok Chan Kim, Bo Kyung Koo, Myungshin Kim, Yonggoo Kim, In Yang Park and In Kyung Sung

    Citation: Molecular Cytogenetics 2016 9:61

    Content type: Research

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  22. Chromosome counting is a process in which cells determine somehow their intrinsic chromosome number(s). The best-studied cellular mechanism that involves chromosome counting is ‘chromosome-kissing’ and X-chrom...

    Authors: Martina Rinčić, Ivan Y. Iourov and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:56

    Content type: Hypothesis

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  23. Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental m...

    Authors: Nicoletta Villa, Agnese Scatigno, Serena Redaelli, Donatella Conconi, Paola Cianci, Clotilde Farina, Chiara Fossati, Leda Dalprà, Silvia Maitz and Angelo Selicorni

    Citation: Molecular Cytogenetics 2016 9:60

    Content type: Case Report

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  24. The low-numbered 14-chromosome karyotype of marsupials has falsified the fusion hypothesis claiming ancestrality from a 22-chromosome karyotype. Since the 14-chromosome condition of the relict Dromiciops gliroide...

    Authors: Elkin Y. Suárez-Villota, Ronie E. Haro, Rodrigo A. Vargas and Milton H. Gallardo

    Citation: Molecular Cytogenetics 2016 9:59

    Content type: Short report

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  25. Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, ...

    Authors: Haiming Yuan, Zhe Meng, Liping Liu, Xiaoyan Deng, Xizi Hu and Liyang Liang

    Citation: Molecular Cytogenetics 2016 9:58

    Content type: Case Report

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  26. FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinica...

    Authors: H. Fryssira, E. Tsoutsou, S. Psoni, S. Amenta, T. Liehr, E. Anastasakis, Ch Skentou, A. Ntouflia, I. Papoulidis, E. Manolakos and N. Chaliasos

    Citation: Molecular Cytogenetics 2016 9:55

    Content type: Case Report

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  27. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second mos...

    Authors: Lacey S. Williams, Hyung-Goo Kim, Vera M. Kalscheuer, J. Matthew Tuck, Lynn P. Chorich, Megan E. Sullivan, Allison Falkenstrom, Richard H. Reindollar and Lawrence C. Layman

    Citation: Molecular Cytogenetics 2016 9:57

    Content type: Research

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  28. Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur e...

    Authors: Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Jiancheng Hu and Hua Wang

    Citation: Molecular Cytogenetics 2016 9:54

    Content type: Case Report

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  29. Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto and Lucia Martelli

    Citation: Molecular Cytogenetics 2016 9:53

    Content type: Erratum

    Published on:

    The original article was published in Molecular Cytogenetics 2016 9:45

  30. Despite progression in treatment of gastric cancer, prognosis of patients remains poor, in part due to the low rate of diagnosis during its early stages. This paradigm implies the necessity to identify molecul...

    Authors: T. M. Araújo, A. D. Seabra, E. M. Lima, P. P. Assumpção, R. C. Montenegro, S. Demachki, R. M. Burbano and A. S. Khayat

    Citation: Molecular Cytogenetics 2016 9:52

    Content type: Short report

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  31. The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of th...

    Authors: Chunyang Li, Chunxue Liu, Bingrui Zhou, Chunchun Hu and Xiu Xu

    Citation: Molecular Cytogenetics 2016 9:51

    Content type: Case Report

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  32. BCR-ABL1 fusion proteins contain constitutively active tyrosine kinases that are potential candidates for targeted therapy with tyrosine kinase inhibitors such as imatinib in chronic m...

    Authors: Xiaodong Lyu, Jingke Yang, Xianwei Wang, Jieying Hu, Bing Liu, Yu Zhao, Zhen Guo, Bingshan Liu, Ruihua Fan and Yongping Song

    Citation: Molecular Cytogenetics 2016 9:47

    Content type: Case Report

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  33. During the final stages of oocyte development, all chromosomes join in a limited nuclear volume for the final formation of a single complex chromatin structure – the karyosphere. In the majority of mammalian s...

    Authors: Galina N. Pochukalina, Nadya V. Ilicheva, Olga I. Podgornaya and Alexey P. Voronin

    Citation: Molecular Cytogenetics 2016 9:50

    Content type: Research

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  34. Micronucleus (MN) assay is a well standardized approach for evaluation of clastogenic/aneugenic effects of mutagens. Fluorescence in situ hybridization (FISH) is successfully used to characterize the chromosom...

    Authors: Galina Hovhannisyan, Rouben Aroutiounian, Nelly Babayan, Tigran Harutyunyan and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:49

    Content type: Research

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  35. Painters are exposed to an extensive variety of harmful substances like aromatic hydrocarbons used as solvents and paint removers, some of which have shown clastogenic activity. These substances constitute a c...

    Authors: Mónica Villalba-Campos, Lilian Chuaire-Noack, Magda Carolina Sánchez-Corredor and Milena Rondón-Lagos

    Citation: Molecular Cytogenetics 2016 9:46

    Content type: Research

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  36. Robertsonian translocations occur in approximately one in every 1000 newborns. Although most Robertsonian translocation carriers are healthy and have a normal lifespan, they are at increased risk of spontaneou...

    Authors: Jieping Song, Xi li, Lei Sun, Shuqin Xu, Nian Liu, Yanyi Yao, Zhi Liu, Weipeng Wang, Han Rong and Bo Wang

    Citation: Molecular Cytogenetics 2016 9:48

    Content type: Case Report

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  37. Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes ...

    Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto and Lucia Martelli

    Citation: Molecular Cytogenetics 2016 9:45

    Content type: Case Report

    Published on:

    The Erratum to this article has been published in Molecular Cytogenetics 2016 9:53

  38. Preparation of good chromosome spreads without cytoplasmic contamination is the crucial step in cytogenetic mapping. To date, cytogenetic research in the Orchidaceae family has been carried out solely on mitot...

    Authors: Yi-Tzu Kuo, Hui-Lan Hsu, Chih-Hsin Yeh and Song-Bin Chang

    Citation: Molecular Cytogenetics 2016 9:44

    Content type: Methodology

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  39. Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmor...

    Authors: Malgorzata I. Srebniak, Laura J. C. M. van Zutven, Florence Petit, Sonia Bouquillon, Ilse P. J. van Heel, Maarten F. C. M. Knapen, Jerome M. J. Cornette, Andreas Kremer, Diane Van Opstal and Karin E. M. Diderich

    Citation: Molecular Cytogenetics 2016 9:43

    Content type: Case Report

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  40. Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge. While such markers are usually detected during cytogenetic studies of constitutional chromosome abno...

    Authors: Laura Morsberger, Kerry Powell and Yi Ning

    Citation: Molecular Cytogenetics 2016 9:42

    Content type: Letter to Editor

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  41. Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.

    Authors: Bobo Xie, Xin Fan, Yaqin Lei, Rongyu Chen, Jin Wang, Chunyun Fu, Shang Yi, Jingsi Luo, Shujie Zhang, Qi Yang, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:41

    Content type: Case Report

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  42. Structural rearrangements of chromosome 19p13.3 are a rare condition, and their phenotypic consequences remain not well defined, because of the variability of clinical manifestations. Increasing knowledge of n...

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

    Citation: Molecular Cytogenetics 2016 9:40

    Content type: Case Report

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  43. Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown.

    Authors: Jiasun Su, Rongyu Chen, Jingsi Luo, Xin Fan, Chunyun Fu, Jin Wang, Sheng He, Xuyun Hu, ShuJie Zhang, Shang Yi, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:39

    Content type: Case report

    Published on:

  44. Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tis...

    Authors: Elena Sukarova-Angelovska, Mirjana Kocova, Gordana Ilieva, Natalija Angelkova and Elena Kochova

    Citation: Molecular Cytogenetics 2016 9:38

    Content type: Case report

    Published on:

  45. Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC...

    Authors: Yu-an Hu, Yingxia Cui, Xiaobo Fan, Qiuyue WU, Weiwei Li and Weiping Wang

    Citation: Molecular Cytogenetics 2016 9:37

    Content type: Case Report

    Published on:

  46. Trematodes have a complex life cycle with animal host changes and alternation of parthenogenetic and hermaphrodite generations. The parthenogenetic generation of the worm (rediae) from the first intermediate h...

    Authors: Anna I. Solovyeva, Vera N. Stefanova, Olga I. Podgornaya and Serghei Iu. Demin

    Citation: Molecular Cytogenetics 2016 9:34

    Content type: Research

    Published on:

  47. The centromere is the specialized locus required for correct chromosome segregation during cell division. The DNA of most eukaryotic centromeres is composed of extended arrays of tandem repeats (satellite DNA)...

    Authors: Federico Cerutti, Riccardo Gamba, Alice Mazzagatti, Francesca M. Piras, Eleonora Cappelletti, Elisa Belloni, Solomon G. Nergadze, Elena Raimondi and Elena Giulotto

    Citation: Molecular Cytogenetics 2016 9:35

    Content type: Research

    Published on:

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