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1.

542
Accesses

Commentary   Open Access

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)

Abstract | Full text | PDF | PubMed

2.

511
Accesses

Short report   Open Access

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)

Abstract | Full text | PDF | ePUB | PubMed

3.

509
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | ePUB | PubMed

4.

473
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

5.

439
Accesses

Methodology   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed |  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.

6.

435
Accesses

Review   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central | 1 comment

7.

424
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | ePUB | PubMed

8.

407
Accesses

Research   Open Access

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)

Abstract | Provisional PDF | PubMed

9.

376
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | ePUB | PubMed

10.

345
Accesses

Review   Open Access Highly Accessed

The genome diversity and karyotype evolution of mammals

Alexander S Graphodatsky, Vladimir A Trifonov, Roscoe Stanyon Molecular Cytogenetics 2011, 4:22 (12 October 2011)

Abstract | Full text | PDF | PubMed

11.

311
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed

12.

307
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

13.

307
Accesses

Review   Open Access

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)

Abstract | Full text | PDF | PubMed

14.

305
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

15.

299
Accesses

Review   Open Access Highly Accessed

Cytogenetic contribution to uniparental disomy (UPD)

Thomas Liehr Molecular Cytogenetics 2010, 3:8 (29 March 2010)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

16.

291
Accesses

Methodology   Open Access

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)

Abstract | Full text | PDF | PubMed

17.

286
Accesses

Obituary   Open Access

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)

Full text | PDF | PubMed

18.

282
Accesses

Case report   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | 1 comment

19.

263
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

20.

247
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

21.

245
Accesses

Editorial   Open Access Highly Accessed

Chromosomal mosaicism goes global

Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov Molecular Cytogenetics 2008, 1:26 (25 November 2008)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

22.

242
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

23.

241
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

24.

240
Accesses

Short report   Open Access

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)

Abstract | Full text | PDF | PubMed

25.

238
Accesses

Review   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

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