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  1. Content type: Research

    Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential p...

    Authors: Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski and Anja Weise

    Citation: Molecular Cytogenetics 2018 11:20

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  2. Content type: Review

    Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic beh...

    Authors: Qiping Hu, Hongyan Chai, Wei Shu and Peining Li

    Citation: Molecular Cytogenetics 2018 11:19

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  3. Content type: Research

    Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced ga...

    Authors: Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai and Yi Liu

    Citation: Molecular Cytogenetics 2018 11:18

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    The Correction to this article has been published in Molecular Cytogenetics 2018 11:25

  4. Content type: Case Report

    Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NB...

    Authors: Raneem Habib, Heidemarie Neitzel, Aurelie Ernst, John K. L. Wong, Bozenna Goryluk-Kozakiewicz, Antje Gerlach, Ilja Demuth, Karl Sperling and Krystyna Chrzanowska

    Citation: Molecular Cytogenetics 2018 11:17

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  5. Content type: Research

    Amphidiploids generated by distant hybridization are commonly used as genetic bridge to transfer desirable genes from wild wheat species into cultivated wheat. This method is typically used to enhance the resi...

    Authors: Daiyan Li, Dan Long, Tinghui Li, Yanli Wu, Yi Wang, Jian Zeng, Lili Xu, Xing Fan, Lina Sha, Haiqin Zhang, Yonghong Zhou and Houyang Kang

    Citation: Molecular Cytogenetics 2018 11:16

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  6. Content type: Case Report

    Small supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads ...

    Authors: Haiyu Li, Juan Du, Wen Li, Dehua Cheng, Wenbin He, Duo Yi, Bo Xiong, Shimin Yuan, Chaofeng Tu, Lanlan Meng, Aixiang Luo, Ge Lin, Guangxiu Lu and Yue-Qiu Tan

    Citation: Molecular Cytogenetics 2018 11:15

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  7. Content type: Research

    Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical...

    Authors: Carla Sustek D’Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Charles Marques Lourenço, Chong Ae Kim, Debora Romeo Bertola, Fernando Kok, Luis Garcia-Alonso and Celia Priszkulnik Koiffmann

    Citation: Molecular Cytogenetics 2018 11:14

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  8. Content type: Research

    Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number ...

    Authors: Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper and Lawrence C. Layman

    Citation: Molecular Cytogenetics 2018 11:13

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  9. Content type: Research

    Chromosome translocations are rare but frequently associated with infertility. The objective of this study is to investigate the feasibility of using chromosomal microarray analysis (CMA) on products of concep...

    Authors: Ye-Qing Qian, Xiao-Ying Fu, Xiao-Qing Wang, Yu-Qin Luo, Min Chen, Kai Yan, Yan-Mei Yang, Bei Liu, Li-Ya Wang, Ying-Zhi Huang, Hong-Ge Li, Hang-Yi Pan, Fan Jin and Min-Yue Dong

    Citation: Molecular Cytogenetics 2018 11:12

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  10. Content type: Review

    Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic cou...

    Authors: Hong-Guo Zhang, Rui-Xue Wang, Yuan Pan, Han Zhang, Lei-Lei Li, Hai-Bo Zhu and Rui-Zhi Liu

    Citation: Molecular Cytogenetics 2018 11:10

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  11. Content type: Research

    Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have b...

    Authors: Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik…

    Citation: Molecular Cytogenetics 2018 11:9

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  12. Content type: Case Report

    Chiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomening...

    Authors: Shuai Guo, Xue-Feng Fan, Jie-Yuan Jin, Liang-Liang Fan, Lei Zeng, Zheng-Bing Zhou, Rong Xiang and Ju-Yu Tang

    Citation: Molecular Cytogenetics 2018 11:8

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  13. Content type: Case Report

    Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (M...

    Authors: Roberta La Starza, Tiziana Pierini, Lorenza Pastorino, Elisa Albi, Caterina Matteucci, Barbara Crescenzi, Paolo Sportoletti, Piero Covarelli, Franca Falzetti, Giovanni Roti, Stefano Ascani and Cristina Mecucci

    Citation: Molecular Cytogenetics 2018 11:6

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  14. Content type: Research

    Copy number variations (CNSs) of large genomic regions are an important mechanism implicated in the development of head and neck cancer, however, for most changes their exact role is not well understood. The a...

    Authors: Boris Zagradišnik, Danijela Krgović, Špela Stangler Herodež, Andreja Zagorac, Bogdan Ćižmarević and Nadja Kokalj Vokač

    Citation: Molecular Cytogenetics 2018 11:5

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  15. Content type: Case Report

    Translocations of the IGH locus on 14q32.3 are present in about 8% of patients with chronic lymphocytic leukemia (CLL) and contribute to leukemogenesis by deregulating the expression of the IGH-partner genes. Ide...

    Authors: Theodora Malli, Melanie Rammer, Sabrina Haslinger, Jonathan Burghofer, Sonja Burgstaller, Hans-Christian Boesmueller, Renate Marschon, Wolfgang Kranewitter, Martin Erdel, Sabine Deutschbauer and Gerald Webersinke

    Citation: Molecular Cytogenetics 2018 11:3

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  16. Content type: Research

    The majority of the cases of bone marrow failure syndromes/aplastic anaemias (BMFS/AA) are non-hereditary and considered idiopathic (80–85%). The peripheral blood picture is variable, with anaemia, neutropenia...

    Authors: R. Valli, L. Vinti, A. Frattini, M. Fabbri, G. Montalbano, C. Olivieri, A. Minelli, F. Locatelli, F. Pasquali and E. Maserati

    Citation: Molecular Cytogenetics 2018 11:2

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  17. Content type: Research

    Inactivation of the PTEN tumor suppressor gene by deletion occurs in 20–30% of prostate cancer tumors and loss strongly correlates with a worse outcome. PTEN loss of function not only leads to activation of the P...

    Authors: Thiago Vidotto, Daniel Guimarães Tiezzi and Jeremy A. Squire

    Citation: Molecular Cytogenetics 2018 11:1

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  18. Content type: Case Report

    Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated with variable defects: microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly of hands and feet, micrognathia/ret...

    Authors: Pavlina Capkova, Alena Santava, Ivana Markova, Andrea Stefekova, Josef Srovnal, Katerina Staffova and Veronika Durdová

    Citation: Molecular Cytogenetics 2017 10:47

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  19. Content type: Case Report

    The molecular etiology of Beckwith-Wiedemann syndrome (BWS) is complex and heterogeneous. Several subtypes of epigenetic-genetic alterations including aberrant methylation patterns, segmental uniparental disom...

    Authors: Qin Wang, Qian Geng, Qinghua Zhou, Fuwei Luo, Peining Li and Jiansheng Xie

    Citation: Molecular Cytogenetics 2017 10:46

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  20. Content type: Review

    Mosaicism for chromosome rearrangements is common in preimplantation diagnoses, yet is rare in prenatal diagnoses as well as in other groups of patients referred to cytogenetic testing. Consequently, there is ...

    Authors: Natalia V. Kovaleva and Philip D. Cotter

    Citation: Molecular Cytogenetics 2017 10:45

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  21. Content type: Methodology

    Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacenta...

    Authors: Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A. Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang and Ming Chen

    Citation: Molecular Cytogenetics 2017 10:44

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  22. Content type: Case Report

    Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.

    Authors: Alena S. Telepova, Svetlana A. Romanenko, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin

    Citation: Molecular Cytogenetics 2017 10:43

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  23. Content type: Case Report

    Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of f...

    Authors: Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo and Sara Frías

    Citation: Molecular Cytogenetics 2017 10:42

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  24. Content type: Research

    The oocyte chromosomes of the red flour beetle, Tribolium castaneum, are gathered into a knot, forming a karyosphere at the diplotene stage of meiotic prophase. Chromatin rearrangement, which is a characteristic ...

    Authors: Artem M. Kiselev, Irina S. Stepanova, Leonid S. Adonin, Florina M. Batalova, Vladimir N. Parfenov, Dmitry S. Bogolyubov and Olga I. Podgornaya

    Citation: Molecular Cytogenetics 2017 10:41

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  25. Content type: Case Report

    The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolution...

    Authors: Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY and Aihua Yin

    Citation: Molecular Cytogenetics 2017 10:40

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  26. Content type: Case Report

    ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthe...

    Authors: Rima Koka, Najeebah A. Bade, Edward A. Sausville, Yi Ning and Ying Zou

    Citation: Molecular Cytogenetics 2017 10:39

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  27. Content type: Case Report

    Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the...

    Authors: Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B. H. Al-Rikabi, Krati Shah, Jayesh Sheth and Frenny Sheth

    Citation: Molecular Cytogenetics 2017 10:38

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  28. Content type: Research

    Species belonging to the Sciaenidae family present a karyotype composed by 48 acrocentric chromosomes and are thus considered a striking example of chromosomal conservation. In this family, three species are e...

    Authors: Dongdong Xu, Wagner Franco Molina, Cassia Fernanda Yano, Yurong Zhang, Ezequiel Aguiar de Oliveira, Bao Lou and Marcelo de Bello Cioffi

    Citation: Molecular Cytogenetics 2017 10:37

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  29. Content type: Case Report

    Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of S...

    Authors: Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang and Yiping Shen

    Citation: Molecular Cytogenetics 2017 10:36

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  30. Content type: Case Report

    Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is cons...

    Authors: Daiane Correa de Souza, Amanda Faria de Figueiredo, Daniela R. Ney Garcia, Elaine Sobral da Costa, Moneeb A.K. Othman, Thomas Liehr, Eliana Abdelhay, Maria Luiza Macedo Silva and Teresa de Souza Fernandez

    Citation: Molecular Cytogenetics 2017 10:35

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  31. Content type: Case Report

    Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012)...

    Authors: Anna Poluha, Joanna Bernaciak, Ilona Jaszczuk, Marta Kędzior and Beata Anna Nowakowska

    Citation: Molecular Cytogenetics 2017 10:34

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  32. Content type: Case Report

    Homozygous mutations and deletions of the microcephalin gene (MCPH1; OMIM *607117) have been identified as a cause of autosomal recessive primary microcephaly and intellectual disability (MIM #251200). Previous s...

    Authors: Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Melanie Morrow, Tamara Zach, Arturo Anguiano, Mohamed M Elnaggar, Boris T Wang and Fatih Z Boyar

    Citation: Molecular Cytogenetics 2017 10:33

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  33. Content type: Research

    Whole exome sequencing (WES) has been widely accepted as a robust and cost-effective approach for clinical genetic testing of small sequence variants. Detection of copy number variants (CNV) within WES data ha...

    Authors: Ruen Yao, Cheng Zhang, Tingting Yu, Niu Li, Xuyun Hu, Xiumin Wang, Jian Wang and Yiping Shen

    Citation: Molecular Cytogenetics 2017 10:30

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  34. Content type: Research

    Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified...

    Authors: Darinka Šumanović-Glamuzina, Bernarda Lozić, Piotr S. Iwanowski, Tatijana Zemunik, Zeljka Bilinovac, Beata Stasiewicz-Jarocka, Barbara Panasiuk and Alina T. Midro

    Citation: Molecular Cytogenetics 2017 10:29

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  35. Content type: Research

    Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have...

    Authors: Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine and Thomas Eggermann

    Citation: Molecular Cytogenetics 2017 10:28

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  36. Content type: Methodology

    Genetic abnormalities, including chromosomal translocations, are described for many hematological malignancies. From the clinical perspective, detection of chromosomal abnormalities is relevant not only for di...

    Authors: Lydie Debaize, Hélène Jakobczyk, Anne-Gaëlle Rio, Virginie Gandemer and Marie-Bérengère Troadec

    Citation: Molecular Cytogenetics 2017 10:27

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  37. Content type: Research

    Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in t...

    Authors: Thomas Smol, Annika Dufour, Sabine Tricot, Mathieu Wemeau, Laure Stalnikiewicz, Franck Bernardi, Christine Terré, Benoît Ducourneau, Hervé Bisiau and Agnès Daudignon

    Citation: Molecular Cytogenetics 2017 10:26

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  38. Content type: Research

    Atypical lipomatous tumor (ALT), well differentiated liposarcoma (WDLS) and dedifferentiated liposarcoma (DDLS) are cytogenetically characterized by near-diploid karyotypes with no or few other aberrations tha...

    Authors: Nils Mandahl, Linda Magnusson, Jenny Nilsson, Björn Viklund, Elsa Arbajian, Fredrik Vult von Steyern, Anders Isaksson and Fredrik Mertens

    Citation: Molecular Cytogenetics 2017 10:25

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  39. Content type: Meeting abstracts

    Authors: Athel Cornish-Bowden, Athel Cornish-Bowden, David Rasnick, Henry H. Heng, Steven Horne, Batoul Abdallah, Guo Liu, Christine J. Ye, Mathew Bloomfield, Mark D. Vincent, C. Marcelo Aldaz, Jenny Karlsson, Anders Valind, Caroline Jansson, David Gisselsson, Jennifer A. Marshall Graves…

    Citation: Molecular Cytogenetics 2017 10(Suppl 2):21

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    This article is part of a Supplement: Volume 10 Supplement 2

  40. Content type: Case Report

    Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limit...

    Authors: Jie Hu, Zhishuo Ou, Elena Infante, Sally J. Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad and Urvashi Surti

    Citation: Molecular Cytogenetics 2017 10:24

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  41. Content type: Case Report

    Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with ...

    Authors: Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang and Dongyi Yu

    Citation: Molecular Cytogenetics 2017 10:23

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  42. Content type: Case Report

    Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosom...

    Authors: N. Villa, D. Conconi, D. Gambel Benussi, G. Tornese, F. Crosti, E. Sala, L. Dalprà and V. Pecile

    Citation: Molecular Cytogenetics 2017 10:22

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  43. Content type: Short report

    Chronic myelogenous leukemia (CML) is a pluripotent hematopoietic stem cell disorder caused by the fusion of the BCR and ABL1 genes. Quantitative RT-PCR (qRT-PCR) is a routinely performed screening technique to i...

    Authors: Fen Zhou, Runming Jin, Yu Hu and Heng Mei

    Citation: Molecular Cytogenetics 2017 10:19

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