CytoCell FISH publications

Identification of fetal aneuploidy with dual-probe fluorescence in situ hybridization analysis in circulating trophoblasts after enrichment using a high-sensitivity microfluidic platform

Authors: Jiri Sonek, Rolf Muller, Judy Muller-Cohn, Janet Dickerson, Brenda Garcia Lopez, Jennifer Barber-Singh, Dylan Dufek, Adam Kinney Hiett & Philip Buchanan

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Prenatal diagnosis and molecular cytogenetic characterization of copy number variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a fetus with ultrasound anomalies: a case report and literature review

Authors: Han Zhang, Qi Xi, Xiangyin Liu, Fagui Yue, Hongguo Zhang, Meiling Sun & Ruizhi Liu

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Long intergenic non-coding RNA-p21 is associated with poor prognosis in chronic lymphocytic leukemia

Authors: R. Abo Elwafa, A. Abd Elrahman & O. Ghallab

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Case of 15q26-qter deletion associated with a Prader-Willi phenotype

Authors: Jéssica Fernandes dos Santos, Angelina Xavier Acosta, Gabriela Gayer Scheibler, Paula Monique Leite Pitanga, Esmeralda Santos Alves, Joanna Goes Castro Meira, Évelin Aline Zanardo, Leslie Domenici Kulikowski, Renata Lúcia Leite Ferreira de Lima et al

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MECOM rearrangement involving the MYC locus: two additional patients with the rare translocation, t(3;8)(q26.2;q24), and molecular review

Authors: Scott C. Smith, Tareq Z. S. Qdaisat, Pamela A. Althof, Bhavana J. Dave & Jennifer N. Sanmann

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Diagnostic utility of array comparative genomic hybridization in children with neurological diseases

Authors: Turgay Cokyaman & Fatma Silan

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A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short‐lived infant

Authors: María Guadalupe Domínguez, Horacio Rivera, Rosa María Dávalos‐Pulido & Ingrid Patricia Dávalos‐Rodríguez

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Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients

Authors: C. S. Franchim, J. M. Soares-Junior, P. C. Serafini, P. A. A. Monteleone, M. S. Coccuzza, E. A. Zanardo, M. M. Montenegro, A. T. Dias, L. D. Kulikowski & E. C. Baracat

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Do sex chromosomes of snakes, monitor lizards, and iguanian lizards result from multiple fission of an “ancestral amniote super-sex chromosome”?

Authors: Worapong Singchat, Siwapech Sillapaprayoon, Narongrit Muangmai, Sudarath Baicharoen, Chantra Indananda, Prateep Duengkae, Surin Peyachoknagul, Rebecca E. O’Connor, Darren K. Griffin & Kornsorn Srikulnath

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Tetraploid/near-tetraploid acute promyelocytic leukaemia with double (15;17) translocation

Authors: Kyaw Tay Za, Nicholas Jackson & Edmund Fui Min Chin

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Identification of circulating tumor cells using 4‐color fluorescence in situ hybridization: validation of a noninvasive aid for ruling out lung cancer in patients with low‐dose computed tomography–detected lung nodules

Authors: Ruth L. Katz, Tanweer M. Zaidi, Deep Pujara, Namita D. Shanbhag, Duy Truong, Shekhar Patil, Reza J. Mehran, Randa A. El‐Zein, Sanjay S. Shete & Joshua D. Kuban

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Clinical and cytogenomic characterization of de novo 11p14.3-p15.5 duplication associated with 18q23 deletion in an Egyptian female infant

Authors: Hanan H. Afifi, Ghada Y. El-Kamah, Alaa K. Kamel, Sally G. Abd Allah, Sayda Hammad, Mohammed M. Sayed-Ahmed, Shymaa H. Hussein & Amal M. Mohamed

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Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene

Authors: Lior Goldberg, Amos J. Simon, Gideon Rechavi, Atar Lev, Ortal Barel, Vered Kunik, Amos Toren, Ginette Schiby, Hannah Tamary, Orna Steinberg‐Shemer & Raz Somech

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Hypercalcemia at diagnosis of diffuse large B‐cell lymphoma is not uncommon and is associated with high‐risk features and a short diagnosis‐to‐treatment interval

Authors: Anne‐Cécile Gauchy, Lukshe Kanagaratnam, Anne Quinquenel, Baptiste Gaillard, Cyrielle Rodier, Sophie Godet, Alain Delmer & Eric Durot

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Concepts of double hit and triple hit disease in multiple myeloma, entity and prognostic significance

Authors: Mehmet Baysal, Ufuk Demirci, Elif Umit, Hakki Onur Kirkizlar, Emine Ikbal Atli, Hakan Gurkan, Sedanur Karaman Gulsaran, Volkan Bas, Cisem Mail & Ahmet Muzaffer Demir

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22q13 microduplication syndrome in siblings with mild clinical phenotype: broadening the clinical and behavioral spectrum

Authors: A. Ujfalusi, O. Nagy, B. Bessenyei, G. Lente, I. Kántor, A.J. Borbély & K. Szakszon

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Analysis of the origin of double mosaic aneuploidy in two cases

Authors: T. Kato, M. Kawai, S. Miyai, F. Suzuki, M. Tsutsumi, S. Mizuno, T. Ikeda & H. Kurahashi

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Comprehensive chromosomal aberrations in a case of a patient with TCF3-HLF-positive BCP-ALL

Authors: Monika Lejman, Monika Włodarczyk, Joanna Zawitkowska & Jerzy R. Kowalczyk

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Detection of SHOX gene deletions in Egyptian children with idiopathic short stature using FISH

Authors: Amr Shujaa-Addin, Mervat Hashish, Nahla Nazmy, Amany Srour & Ebtesam Abdalla

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A case of trisomy 13 mosaicism presenting with a severe aortic root dilatation and marfanoid habitus due to an unpredictable cytogenetic mechanism

Authors: P. Monin, N. Reynaud, N.Hanna, S. Dupuis-Girod, M. Till, P. Arnaud, A. Labalme, E. Alix, C. Poizat-Amar, M. Faoucher, L. Ravella, B. Debost, J.-F Obadia, J.-C. Zech, C. Boileau, D. Sanlaville, P. Edery, A. Putoux & C. Schluth-Bolard

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Pronuclear number does not fully reflect ploidy number in human embryos

Authors: Isaac C. Wun, Yuh-Jue Chen, Chin-Hsuan Liu & Wan-Song Wun

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Detection of del(16q) using the CBFB-MYH11 translocation dual fusion probe

Authors: Doaa F. Temerik, Walaa T. El-Mahdy & Ahmed Makboul Ahmed

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Lymphocytic variant of hypereosinophilic syndrome: A report of seven cases from a single institution

Authors: Zhihong Hu, Wei Wang, Beenu Thakral, Zhining Chen, Zeev Estrov, Carlos E. Bueso-Ramos, Srdan Verstovsek, L Jeffrey Madeiros & Sa A. Wang

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A case of cellular variants of sclerosing epithelioid fibrosarcoma resembling plasmacytoma /myeloma: diagnostic difficulty in the fine needle aspiration

Authors: Nahoko Nagano, Noriyoshi Ishikawa, Mamiko Nagase, Asuka Araki, Teruaki Iwahashi & Riruke Maruyama

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Prognostic factors five years after enucleation for uveal melanoma

Authors: Mehmet Dogrusöz, Niels J. Brouwer, Stefan J. R. de Geus, Long V. Ly, Stefan Böhringer; Sjoerd G. van Duinen, Wilma G. M. Kroes, Pieter A. van der Velden, Geert W. Haasnoot, Marina Marinkovic, Gregorius P. M. Luyten, Tero T. Kivelä & Martine J. Jager

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Adaptive phenotypic modulations lead to therapy resistance in chronic myeloid leukemia cells

Authors: Seda Baykal-Köse, Eda Acikgoz, Ahmet Sinan Yavuz, Öykü Gönül Geyik, Halil Ateş, Osman Uğur Sezerman, Güner Hayri Özsan & Zeynep Yüce

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Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report

Authors: Meiling Sun, Ruixue Wang, Hongguo Zhang, Yuting Jiang, Jing He, Shibo Li & Ruizhi Liu

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Systematic use of fluorescence in situ hybridization (FISH) and clinicopathological features in the screening of PDGFRB rearrangements of patients with myeloid/lymphoid neoplasms

Authors: Hong Fang, Guilin Tang, Sanam Loghavi, Patricia Greipp, Wei Wang, Srdan Verstovsek, L. Jeffrey Medeiros, Kaaren Reichard, Roberto N. Miranda & Sa A. Wang

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B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like (from Compendium of cancer genome aberrations)

Authors: Mark G. Evans & Fabiola Quintero-Rivera

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Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay

Authors: Jakeline Santos Oliveira, Tatiana Mozer Joaquim, Rosana Aparecida Bicudo da Silva, Deise Helena de Souza,Lúcia Regina Martelli & Danilo Moretti-Ferreira

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NDRG1-PLAG1 and TRPS1-PLAG1 fusion genes in chondroid syringoma

Authors: Ioannis Panagopoulos, Ludmila Gorunova, Kristin Andersen, Marius Lund-Iversen, Ingvild Lobmaier, Francesca Micci & Sverre Heim

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Epigenetic control of the EWS‑FLI1 promoter in Ewing's sarcoma

Authors: C. Montoya, L. Rey, J. Rodríguez, M. J. Fernández, D. Troncoso, A. Cañas, O. Moreno, B. Henríquez & A. Rojas

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Human chorionic gonadotropin improves the proliferation and regenerative potential of bone marrow adherent stem cells and the immune tolerance of fetal microchimeric stem cells in vitro

Authors: Andrei Cosmin Cismaru, Olga Soritau, Ancuta Maria Jurj, Lajos-Zsolt Raduly, Bogdan Pop, Cosmina Bocean, Diana Miclea, Oana Baldasici, Cristian Moldovan, Laura Urian, Cornelia Braicu, Sergiu Chira, Roxana Cojocneanu, Laura Ancuta Pop et al.

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Persistent telomere cohesion protects aged cells from premature senescence

Authors: Kameron Azarm, Amit Bhardwaj, Eugenie Kim & Susan Smith

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An unbalanced chromosome translocation between 7p22 and 12q13 leads to ACTB-GLI1 fusion in pericytoma

Authors: Ioannis Panagopoulos, Ludmila Gorunova, Tor Vikan Rise, Kristin Andersen, Francesca Micci & Sverre Heim

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The role of bone marrow-derived cells in the origin of liver cancer revealed by single-cell sequencing

Authors: Lu Chen, Xianfu Yi, Piao Guo, Hua Guo, Ziye Chen, Chunyu Hou, Lisha Qi, Yongrong Wang, Chengwen Li, Peng Liu, Yucun Liu, Yuanfu Xu & Ning Zhang

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Delineating cell behavior and metabolism of non-melanoma skin cancer in vitro

Authors: Tatiana Mendez, Shawheen Saffari, Janet M. Cowan, Nora M. V. Laver, James D. Baleja & Addy Alt-Holland

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Comparison between cryobiopsy and forceps biopsy in detection of epidermal growth factor receptor amplification in non-small-cell lung cancer

Authors: Ahmed S.H. Mohamed, Mohamed Hantera, Ragia S. Sharshar, Amira Y. Abdelnaby & Ayman El Saka

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Liquid biopsy: recent advances in the detection of circulating tumor cells and their clinical applications

Authors: R.L. Katz, T.M. Zaidi & X. Ni

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DNA aneuploidy and tissue architecture in oral potentially malignant disorders with epithelial dysplasia assessed by a 10 locus FISH panel

Authors: Zuraiza Mohamad Zaini, Michael Neat, Angela Stokes, Mahvash Tavassoli & Edward W. Odell

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A new approach for accurate detection of chromosome rearrangements that affect fertility in cattle

Authors: Rebecca L. Jennings, Darren K. Griffin and Rebecca E. O’Connor

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Clinical utility of fluorescence in situ hybridization‐based diagnosis of BCR‐ABL1 like (Philadelphia chromosome like) B‐acute lymphoblastic leukemia

Authors: Theodora Anagnostou, Ryan A. Knudson, Kathryn E. Pearce, Reid G. Meyer, Beth A. Pitel, Jess F. Peterson, Linda B. Baughn, Kaaren K. Reichard, Rhett P. Ketterling et al

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A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

Authors: Francesca Parissone, Mairi Pucci, Emanuela Meneghelli, Orsetta Zuffardi, Rossana Di Paola, Stefano Zaffagnini, Massimo Franchi, Elisabetta Santangelo, Gaetano Cantalupo, Paolo Cavarzere, Franco Antoniazzi, Giorgio Piacentini & Rossella Gaudino

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Chromosome translocation t(14;21)(q11;q22) activates both OLIG1 and OLIG2 in pediatric T-cell lymphoblastic malignancies and may signify adverse prognosis

Authors: Ioannis Panagopoulos, Ludmila Gorunova, Inga Maria Rinvoll Johannsdottir, Kristin Andersen, Arild Holth, Klaus Beiske & Sverre Heim

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Towards new approaches to evaluate dynamic mosaicism in ring chromosome 13 syndrome

Authors: Cristian Petter, Lilia Maria Azevedo Moreira & Mariluce Riegel

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Chromosomal instability in farmers exposed to pesticides: high prevalence of clonal and non-clonal chromosomal alterations

Authors: Sebastian Cepeda, Maribel Forero-Castro, Diana Cárdenas-Nieto, María Martínez-Agüero & Milena Rondón-Lagos

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A new complex translocation (8;22;21)(q22;q12;q22) in RUNX1/ RUNX1T1 acute myeloid leukaemia

Authors: Kyaw Tay Za, Hemalatha Shanmugam & Edmund Fui Min Chin

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Acute monoblastic leukemia with t(11;17)(q23;q21): fusion of the KMT2A(MLL) and MLLT6(AF17) genes

Authors: Cheon-Gang Park, Seon-Ho Mun, A-Jin Lee, Chang-Ho Jeon, Hun Suk Suh & Sang-Gyung Kim

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Functional identification and characterization of the nuclear egress complex of a gammaherpesvirus

Authors: Ying Lv, Sheng Shen, Lingjiao Xiang, Xing Jia, Yanjie Hou, Dacheng Wang & Hongyu Deng

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Therapeutic treatment of breast cancer based on c-MAF status

Authors: Walter Martin Gregory, Juan Carlos Tercero, Roger Gomis & Robert E. Coleman

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Evaluating calmodulin–protein interactions by rapid photoactivated cross-linking in live cells metabolically labeled with photo-methionine

Authors: DJ Black, Quang-Kim Tran, Andrew Keightley, Ameya Chinawalkar, Cole McMullin & Anthony Persechini

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Genes responsive to rapamycin and serum deprivation are clustered on chromosomes and undergo re-organization within local chromatin environments

Authors: Zachery R. Belak, Joshua A. Pickering, Zoe E Gillespie, Gerald F. Audette, Mark Eramian, Jennifer A Mitchell, Joanna M. Bridger, Anthony Kusalik & Christopher H. Eskiw

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Unbalanced Y;7 translocation between two low-similarity sequences leading to SRY-positive 45,X testicular disorders of sex development

Authors: E. Uehara, A. Hattori, H. Shima, A. Ishiguro, Y. Abe, T. Ogata, E. Ogawa & M. Fukami

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Large B-cell lymphoma with IRF4 rearrangement

Authors: Gabriel Vincent, Steven Richebourg, Stephanie Cloutier, Melanie Fortin, Simon Jacob & Mohamed Amin-Hashem

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Somatic deletion of KDM1A/LSD1 gene is associated to advanced colorectal cancer stages

Authors: Ruth Ramírez-Ramírez, Melva Gutiérrez-Angulo, Jorge Peregrina-Sandoval, José Miguel Moreno-Ortiz, Ramon Antonio Franco-Topete, Felipe de Jesús Cerda-Camacho & Maria de la Luz Ayala-Madrigal

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Telomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency

Authors: Linda C. Barnabas, Kundavi Shankar & Bibhas Kar

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CAR‑T 19 combined with reduced‑dose PD‑1 blockade therapy for treatment of refractory follicular lymphoma: A case report

Authors: Jia Wang, Qi Deng, Yan‑Yu Jiang, Rui Zhang, Hai‑Bo Zhu, Juan‑Xia Meng & Yu‑Ming Li

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Method for the diagnosis, prognosis and treatment of prostate cancer metastasis

Authors: Roger Gomis & Joël Jean-Mairet

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Pan-Trk immunohistochemistry reliably identifies ETV6-NTRK3 fusion in secretory carcinoma of the salivary gland

Authors: Diana Bell, Renata Ferrarotto, Li Liang, Ryan P. Goepfert, Jie Li, Jing Ning, Russell Broaddus, Randal S. Weber & Adel K. El-Naggar

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Identification of seizure susceptibility region in Wolf-Hirschhorn syndrome and treatment thereof

Authors: Karen S. Ho & Robert E. Wassman

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Inhibition of DOT1L and PRMT5 promote synergistic anti-tumor activity in a human MLL leukemia model induced by CRISPR/Cas9

Authors: Kathy-Ann Secker, Hildegard Keppeler, Silke Duerr-Stoerzer, Hannes Schmid, Dominik Schneidawind, Thomas Hentrich, Julia M. Schulze-Hentrich, Barbara Mankel, Falko Fend & Corina Schneidawind

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The inhibitory receptor CD94/NKG2A on CD8+ tumor-infiltrating lymphocytes in colorectal cancer: a promising new druggable immune checkpoint in the context of HLAE/β2m overexpression

Authors: Juliette Eugène, Nicolas Jouand, Kathleen Ducoin, Delphine Dansette, Romain Oger, Cécile Deleine, Edouard Leveque, Guillaume Meurette, Juliette Podevin, Tamara Matysiak, Jaafar Bennouna, Stéphane Bezieau, Christelle Volteau, Wassila El Alami Thomas, et al

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HPV-related multiphenotypic sinonasal carcinoma: A unique case

Authors: Daniel Ching, Shadi Pirasteh & Chanh Ly

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Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion

Authors: Hongyan Chai, Brittany Grommisch, Autumn DiAdamo, Jiadi Wen, Pei Hui & Peining Li

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Cytogenomic characterization of double minute heterogeneity in therapy related acute myeloid leukemia

Authors: Prasad Koduru, Weina Chen, Barbara Haley, Kevin Ho, Dwight Oliver & Kathleen Wilson

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Postnatal clinical phenotype of five patients with Pallister–Killian syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

Authors: Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion‐Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery & Damien Sanlaville

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Biochemical basis and metabolic interplay of redox regulation

Authors: Lixiao Zhang, Xianwei Wang, Ramón Cueto, Comfort Effi, Yuling Zhang, Hongmei Tan, Xuebin Qin, Yong Ji, Xiaofeng Yang & Hong Wang

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Examination of clonal evolution in chronic lymphocytic leukemia

Authors: Dorota Koczkodaj, Sylwia Popek-Marciniec, Szymon Zmorzyński, Ewa Wąsik-Szczepanek & Agata A. Filip

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Prenatal diagnosis of 4q terminal deletion and review of the literature

Authors: Z. Tidrenczel, E. Tardy, H. Pikó, E. Sarkadi, I. Böjtös, J. Demeter, J. Simon, J.P. Kósa & A. Beke

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Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Authors: Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese & Antonio Fico

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Autosomal-identical pluripotent stem cell populations having non-identical sex chromosomal composition and uses thereof

Authors: Ithai Waldhorn & Benjamin Eithan Reubinoff

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The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development

Authors: Orsolya Nagy, Judit Kárteszi, Marianna Hartwig, Rita Bertalan, Eszter Jávorszky, Éva Erhardt, Attila Patócs, Tamás Tornóczky, István Balogh & Anikó Ujfalusi

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Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

Authors: V. Gatinois, N. Bigi, E. Mousty, J. Chiesa, Y. Musizzano, A. Schneider, G. Lefort, L. Pinson, J.-B. Gaillard, C. Ragon, M.‐J.Perez, M. Tournaire, P. Blanchet, C. Corsini, E. Haquet, P. Callier, D. Geneviève, F. Pellestor & J. Puechberty

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RITCARD: Radiation-induced tracks, chromosome aberrations, repair and damage

Authors: Ianik Plante, Artem Ponomarev, Zarana Patel, Tony Slaba & Megumi Hada

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Flow cytometry and cell sorting using hematopoietic progenitor cells

Authors: Sangeetha Vadakke-Madathil, Lalita S. Limaye, Vaijayanti P. Kale & Hina W. Chaudhry

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A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain

Authors: Filomena Nozza, Gabriella Vona, Stefania Trino, Fiorella D’Auria, Francesco La Rocca, Vitina Grieco, Luciana Possidente, Luciana De Luca & Pellegrino Musto

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Markers of oxidative‐nitrosative stress induced by artesunate are followed by clastogenic and aneugenic effects and apoptosis in human lymphocytes

Authors: Tatiane C. Mota, Tarcyane B. Garcia, Laís T. Bonfim, Adrhyann J. S. Portilho, Camila A. Pinto, Rommel M. R. Burbano & Marcelo de Oliveira Bahia

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Burkitt lymphoma of the maxilla in a HIV positive male – Presentation and review of diagnostic laboratory tests

Authors: William Alvarez, Li Han Lai, Shakira J.Grant, Daniel E. Sabath & Jasjit Dillon

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Association of sperm aneuploidy frequency and DNA fragmentation index in infertile men

Authors: Meenakshi Arumugam, Deyyanthody Prashanth Shetty, Jayarama Shetty Kadandale & Suchetha Kumari Nalilu

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Fluorescence in situ hybridization (FISH) in Prader-Willi syndrome

Authors: Anjali Shastry, Preetha Tilak & Amudha Subramaniam

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Supravalvular aortic stenosis caused by a familial chromosome 7 inversion disrupting the ELN gene uncovered by whole-genome sequencing

Authors: L. Pons, P. Bouvagnet, M. Bakloul, S. Di Filippo, A. Buisson, N. Chatron, A. Labalme, O. Metton, J. Mitchell, F. Diguet, P. Rollat-Farnier, D. Sanlaville & C. Schluth-Bolard

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Alterations of the iNKT cell compartment in brain-injured patients

Authors: Allan Patinec, Jézabel Rocher, Mickael Vourc’h, Antoine Roquilly, Karim Asehnoune & Jacques Le Pendu

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Impairing temozolomide resistance driven by glioma stem‐like cells with adjuvant immunotherapy targeting O‐acetyl GD2 ganglioside

Authors: J. Fleurence, M. Bahri, S. Fougeray, S. Faraj, S. Vermeulen, E. Pinault, F. Geraldo, L. Oliver, J. Véziers, P. Marquet, M. Rabé, C. Gratas, F. Vallette, C. Pecqueur, F. Paris & S. Birklé

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Blastic transformation of mantle cell lymphoma with B-lymphoblastic features

Authors: David Cantu, Yuridia Alvarado, Joyce Murata-Collins & Dennis D. Weisenburger

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One-fits-all pretreatment protocol facilitating fluorescence in situ hybridization on formalin-fixed paraffin-embedded, fresh frozen and cytological slides

Authors: Shivanand O. Richardson, Manon M. H. Huibers, Roel A. de Weger, Wendy W. J. de Leng, John W. J. Hinrichs, Ruud W. J. Meijers, Stefan M. Willems & Ton L. M. G. Peeters

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Prenatal identification of partial 3q duplication syndrome

Authors: Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge & Olga Haus

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Double-strand breaks in ribosomal RNA genes activate a distinct signaling and chromatin response to facilitate nucleolar restructuring and repair

Authors: Lea M. Korsholm, Zita Gál, Lin Lin, Oliver Quevedo, Diana A. Ahmad, Ekaterina Dulina, Yonglun Luo, Jiri Bartek & Dorthe H. Larsen

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A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

Authors: Maria Yakoreva, Tiina Kahre, Riina Žordania, Karit Reinson, Rita Teek, Vallo Tillmann, Aleksandr Peet, Eve Õiglane-Shlik, Sander Pajusalu, Ülle Murumets, Mari-Anne Vals, Pille Mee, Monica H. Wojcik & Katrin Õunap

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Mito‐docking: A novel in vivo method to detect protein–protein interactions

Authors: Wei Shao, Lihong He, Fei Deng, Hualin Wang, Just M. Vlak, Zhihong Hu & Manli Wang

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A rare case of acute myeloid leukemia with der(1)t(1;19)(p13;p13.1)

Authors: Meghan McAlice, Munaza Gohar, Ahmed Alshaban, Attilio Orazi, Vijay Tonk, Santosh Chavali, Sahil Tonk & Sumit Gaur

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Inhibition of JAK-STAT signaling inhibits formation of neutrophil extracellular traps (NETs)

Authors: Rob Sellar, Benjamin Ebert, Ofir Wolach, Kim Martinod & Denisa Wagner

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Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

Authors: Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira & Vera Lúcia Gil-da-Silva-Lopes

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Calcifying fibrous tumor and inflammatory myofibroblastic tumor are epigenetically related: A comparative genome-wide methylation study

Authors: Tess Tomassen, Christian Koelsche, Wendy W. J. de Leng, Felix K. F. Kommoss, Carmen M. A. Voijs, Ton Peeters, Max M. van Noesel, David Creytens, Joost M. van Gorp, Iver Petersen, Christian Vokuhl, Andreas von Deimling, Thomas Mentzel & Uta Flucke

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Novel GTF2I–PDGFRB and IKZF1–TYW1 fusions in pediatric leukemia with normal karyotype

Authors: Ioannis Panagopoulos, Marta Brunetti, Margrethe Stoltenberg, Rønnaug A. U. Strandabø, Julie Staurseth, Kristin Andersen, Ilyá Kostolomov, Tarjei S. Hveem, Susanne Lorenz, Tove Anita Nystad, Trond Flægstad, Francesca Micci & Sverre Heim

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Xp11.2 translocation renal cell carcinoma with SFPQ/PSF-TFE3 fusion gene: A case report with unusual histopathologic findings

Authors: Noriyoshi Ishikawa, Mamiko Nagase, Saki Takami, Nahoko Nagano, Asuka Araki, Teruaki Iwahashi, Naotaka Yamauchi, Taku Yamasaki, Hiroaki Shiina & Riruke Maruyama

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Isolation and characterization of a fetal-maternal microchimeric stem cell population in maternal hair follicles long after parturition

Authors: Cosmin Andrei Cismaru, Olga Soritau, Ancuta - Maria Jurj, Raduly Lajos, Bogdan Pop, Cosmina Bocean, Bogdan Albzour, Oana Baldasici, Cristian Moldovan & Ioana Berindan Neagoe

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Remodeling and destabilization of chromosome 1 pericentromeric heterochromatin by SSX proteins

Authors: Sofie Traynor, Niels Erik Møllegaard, Mikkel G. Jørgensen, Nadine H. Brückmann, Christina B. Pedersen, Mikkel G. Terp, Simone Johansen, Jerome Dejardin, Henrik J. Ditzel & Morten F. Gjerstorff

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BCL2 amplicon loss and transcriptional remodeling drives ABT-199 resistance in B cell lymphoma models

Authors: Xiaohong Zhao, Yuan Ren, Matthew Lawlor, Bijal D.Shah, Paul M.C.Park, Tint Lwin, Xuefeng Wang, Kenian Liu, Michelle Wang, Jing Gao, Tao Li, Mousheng Xu, Ariosto S.Silva, Kaplan Lee, Tinghu Zhang, John M.Koomen, Huijuan Jiang, Praneeth Sudalagunta, et al.

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Sexual ambiguity diagnosis: cytogenetics and fluorescence in situ hybridization (FISH)

Authors: Amine Bessaad, Yacef Sihem & Belaid AiT AbdelKader

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Characterization of hyperimmunoglobulins for prevention of maternofetal Cytomegalovirus transmission

Authors: Matthias Stefan Schampera

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Use of human lymphocyte G0 PCCs to detect intra- and inter-chromosomal aberrations for early radiation biodosimetry and retrospective assessment of radiation-induced effects

Authors: Terri L. Ryan, Antonio G. Pantelias, Georgia I. Terzoudi, Gabriel E. Pantelias & Adayabalam S. Balajee

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Cell detection method and cell detection system

Authors: Kentaro Shirai, Yusuke Takahashi, Masatoshi Yanagida, Shigeki Iwanaga, Tomokazu Yoshida & Yuichi Ijiri

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Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases

Authors: Orsolya Nagy, Katalin Szakszon, Brigitta Orsolya Biró, Gábor Mogyorósy, Dóra Nagy, Bálint Nagy, István Balogh & Anikó Ujfalusi

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Molecular genetic characterization of acute myeloid leukemia with trisomy 4 as the sole chromosome abnormality

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Polysomy 8 syndrome: A distinct clinical entity comprising of myelomonocytic/monocytic lineage involvement in acute leukemia

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Method for the diagnosis, prognosis and treatment of lung cancer metastasis

Authors: Roger Gomis & Evarist Planet

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Application of multiplex ligation-dependent probe amplification in determining the copy number alterations of HER gene family members in invasive ductal breast carcinoma

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Gain of the short arm of chromosome 2 (2p gain) has a significant role in drug-resistant chronic lymphocytic leukemia

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Application of fluorescence in situ hybridization in detection of PML/RARA translocation in patients with acute promyelocytic leukemia

Authors: Anjali Shastry, Amudha Subramaniam & Preetha Tilak

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A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

Authors: Igor Ribeiro Ferreira, Wilton Darleans dos Santos Cunha, Leonardo Henrique Ferreira Gomes, Hiago Azevedo Cintra, Letícia Lopes Cabral Guimarães Fonseca, Elenice Ferreira Bastos, Juan Clinton Llerena Jr., Zilton Farias Meira de Vasconcelos, et al.

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Interphase FISH: A helpful assay in prenatal cytogenetics diagnosis

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Correlation of HER2, MDM2, c-MYC, c-MET, and TP53 copy number alterations in circulating tumor cells with tissue in gastric cancer patients: A pilot study

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Smith-Magenis syndrome - A developmental disorder with circadian dysfunction

Authors: Ann C. M. Smith

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