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1.
542 Accesses
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Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
Maria Silva, Maria do Socorro Pombo-de-Oliveira, Susana C Raimondi, Hasmik Mkrtchyan, Eliana Abdelhay, Amanda de Figueiredo, Mariana de Souza, Daniela Garcia, Eliane de Ventura, Adriana de Sousa, Thomas Liehr Molecular Cytogenetics 2009, 2:7 (19 February 2009)
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2.
511 Accesses
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Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients
Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall, Caroline Mackie Ogilvie Molecular Cytogenetics 2013, 6:16 (5 April 2013)
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3.
509 Accesses
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Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
Morteza Hemmat, Omid Hemmat, Arturo Anguiano, Fatih Z Boyar, Mohammed El Naggar, Jia-Chi Wang, Borris T Wang, Trilochan Sahoo, Renius Owen, Mary Haddadin Molecular Cytogenetics 2013, 6:17 (2 May 2013)
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4.
473 Accesses
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On the origin of trisomy 21 Down syndrome
Maj A Hultén, Suketu D Patel, Maira Tankimanova, Magnus Westgren, Nikos Papadogiannakis, Anna Jonsson, Erik Iwarsson Molecular Cytogenetics 2008, 1:21 (18 September 2008)
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5.
439 Accesses
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Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study
Zhihong Yang, Jiaen Liu, Gary S Collins, Shala A Salem, Xiaohong Liu, Sarah S Lyle, Alison C Peck, E Sills, Rifaat D Salem Molecular Cytogenetics 2012, 5:24 (2 May 2012)
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Editor’s summary
Selectively implanting euploid embryos, with a normal number of chromosomes, significantly increases pregnancy rates for IVF patients, highlighting the importance of offering preimplantation genetic screening.
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6.
435 Accesses
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Human interphase chromosomes: a review of available molecular cytogenetic technologies
Svetlana G Vorsanova, Yuri B Yurov, Ivan Y Iourov Molecular Cytogenetics 2010, 3:1 (11 January 2010)
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7.
424 Accesses
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Heteromorphic variants of chromosome 9
Nadezda Kosyakova, Ani Grigorian, Thomas Liehr, Marina Manvelyan, Isabella Simonyan, Hasmik Mkrtchyan, Rouben Aroutiounian, Anna D Polityko, Anna I Kulpanovich, Tatiana Egorova, Evgenia Jaroshevich, Alla Frolova, Natalia Shorokh, Irina V Naumchik, Marianne Volleth, Isolde Schreyer, Heike Nelle, Markus Stumm, Rolf-Dieter Wegner, Gisela Reising-Ackermann, Martina Merkas, Lukretija Brecevic, Thomas Martin, Laura Rodríguez, Samarth Bhatt, Monika Ziegler, Katharina Kreskowski, Anja Weise, Ali Sazci, Svetlana Vorsanova, Marcelo de Bello Cioffi, Emel Ergul et al.
Molecular Cytogenetics 2013, 6:14 (1 April 2013)
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8.
407 Accesses
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Genetic testing for hearing loss in the United States
should include deletion/duplication analysis for the
deafness/infertility locus at 15q15.3
Nicole Hoppman, Umut Aypar, Pamela Brodersen, Neil Brown, Justin Wilson, Dusica Babovic-Vuksanovic Molecular Cytogenetics 2013, 6:19 (6 May 2013)
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9.
376 Accesses
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A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints
Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Othman, Abdulsamad Wafa Molecular Cytogenetics 2013, 6:18 (5 May 2013)
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10.
345 Accesses
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The genome diversity and karyotype evolution of mammals
Alexander S Graphodatsky, Vladimir A Trifonov, Roscoe Stanyon Molecular Cytogenetics 2011, 4:22 (12 October 2011)
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11.
311 Accesses
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A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
Qingwei Qi, Xiya Zhou, Yulin Jiang, Na Hao, Jing Zhou, Liang Zhang Molecular Cytogenetics 2013, 6:11 (6 March 2013)
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12.
307 Accesses
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FISH mapping of Philadelphia negative BCR/ABL1 positive CML
Anna Virgili, Diana Brazma, Alistair G Reid, Julie Howard-Reeves, Mikel Valgañón, Anastasios Chanalaris, Valeria AS De Melo, David Marin, Jane F Apperley, Colin Grace, Ellie P Nacheva Molecular Cytogenetics 2008, 1:14 (18 July 2008)
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13.
307 Accesses
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The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges
Hoh BoonPeng, Khalid Yusoff Molecular Cytogenetics 2013, 6:8 (1 March 2013)
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14.
305 Accesses
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Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
Renu Bajaj, Fang Xu, Bixia Xiang, Katherine Wilcox, Autumn J DiAdamo, Rachana Kumar, Alexandra Pietraszkiewicz, Stephanie Halene, Peining Li Molecular Cytogenetics 2011, 4:3 (20 January 2011)
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15.
299 Accesses
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Cytogenetic contribution to uniparental disomy (UPD)
Thomas Liehr Molecular Cytogenetics 2010, 3:8 (29 March 2010)
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16.
291 Accesses
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CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens
Ruth N MacKinnon, Carly Selan, Adrian Zordan, Meaghan Wall, Harshal Nandurkar, Lynda J Campbell Molecular Cytogenetics 2012, 5:10 (2 February 2012)
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17.
286 Accesses
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In memoriam: Prof. Dr. rer. nat. Dr. med. h.c. Lore Zech; 24.9.1923 – 13.3.2013: Honorary member of the European Society of Human Genetics, Honorary member of the German Society of Human Genetics, Doctor laureate, the University of Kiel, Germany
Brigitte Schlegelberger Molecular Cytogenetics 2013, 6:20 (21 May 2013)
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18.
282 Accesses
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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen, Sofia Kitsiou-Tzeli Molecular Cytogenetics 2011, 4:6 (23 February 2011)
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19.
263 Accesses
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Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr, Aikaterini Metaxotou Molecular Cytogenetics 2009, 2:1 (7 January 2009)
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20.
247 Accesses
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X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation
Susana I Ferreira, Eunice Matoso, Marta Pinto, Joana Almeida, Thomas Liehr, Joana B Melo, Isabel M Carreira Molecular Cytogenetics 2010, 3:14 (20 July 2010)
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21.
245 Accesses
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Chromosomal mosaicism goes global
Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov Molecular Cytogenetics 2008, 1:26 (25 November 2008)
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22.
242 Accesses
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Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
Paola Evangelidou, Carolina Sismani, Marios Ioannides, Christodoulos Christodoulou, George Koumbaris, Ioannis Kallikas, Ioannis Georgiou, Voula Velissariou, Philippos C Patsalis Molecular Cytogenetics 2010, 3:24 (26 November 2010)
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23.
241 Accesses
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Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases
Sang-Jin Park, Eun Jung, Ran-Suk Ryu, Hyun Kang, Jung-Min Ko, Hyon J Kim, Chong Cheon, Sang-Hyun Hwang, Ho-Young Kang Molecular Cytogenetics 2011, 4:12 (9 May 2011)
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24.
240 Accesses
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Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
Malgorzata I Srebniak, Marjan Boter, Gretel O Oudesluijs, Titia Cohen-Overbeek, Lutgarde CP Govaerts, Karin EM Diderich, Renske Oegema, Maarten FCM Knapen, Ingrid MBH van de Laar, Marieke Joosten, Diane Van Opstal, Robert-Jan H Galjaard Molecular Cytogenetics 2012, 5:14 (13 March 2012)
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25.
238 Accesses
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Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology
Galina G Hovhannisyan Molecular Cytogenetics 2010, 3:17 (15 September 2010)
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