|
|
|
|
|
|
Exosome-delivered microRNAs of "chromosome 19 microRNA cluster" as immunomodulators in pregnancy and tumorigenesis
Jörn Bullerdiek, Inga Flor Molecular Cytogenetics 2012, 5:27 (6 May 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review
Xiaoxia Hu, Haiying Chen, Meishan Jin, Xianfu Wang, Jiyun Lee, Weihong Xu, Rui Zhang, Shibo Li, Junqi Niu Molecular Cytogenetics 2012, 5:26 (3 May 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
Critical region in 2q31.2q32.3 deletion syndrome:
Report of two phenotypically distinct patients, one
with an additional deletion in alagille syndrome
region
Susana Isabel Ferreira, Eunice Matoso, Margarida Venâncio, Jorge Saraiva, Joana B Melo, Isabel Marques Carreira Molecular Cytogenetics 2012, 5:25 (2 May 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
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 Scott Sills, Rifaat D Salem Molecular Cytogenetics 2012, 5:24 (2 May 2012)
Abstract | Provisional 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.
|
|
|
|
BCR-JAK2 fusion as a result of a translocation
(9;22)(p24;q11.2) in a patient with CML-like
myeloproliferative disease
Mohamed M Elnaggar, Sally Agersborg, Trilochan Sahoo, Ati Girgin, Wnlong Ma, Ronjay Rakkhit, Isabel Zorrilla, Alexis Leal Molecular Cytogenetics 2012, 5:23 (1 May 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
Analysis of ZAP70 expression in adult acute
lymphoblastic leukaemia by real time quantitative
PCR
Geothy Chakupurakal, Andrew Bell, Mike Griffiths, Farooq Wandroo, Paul Moss Molecular Cytogenetics 2012, 5:22 (1 May 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
A novel unbalanced de novo translocation
der(5)t(4;5)(q26;q21.1) in adult T-cell precursor
lymphoblastic leukemia
Eigil Kjeldsen, Anne Stidsholt Roug Molecular Cytogenetics 2012, 5:21 (1 May 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
A novel five-way translocation t(7;11;9;22;9)(q22;q13;q34;q11.2;q34) involving Ph chromosome in a patient of chronic myeloid leukemia: a case report
Sho Yokota, Yuichi Nakamura, Masami Bessho Molecular Cytogenetics 2012, 5:20 (1 May 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
Caroline Robberecht, Thierry Voet, Gülen E Utine, Albert Schinzel, Nicole de Leeuw, Jean-Pierre Fryns, Joris Vermeesch Molecular Cytogenetics 2012, 5:19 (10 April 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
Deling Li, Mustafa Tekin, Maria Buch, Yao-Shan Fan Molecular Cytogenetics 2012, 5:18 (9 April 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
Patrícia BS Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Malgorzata MJ Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle S Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A Rosenfeld, Roger E Stevenson, Sung-Hae L Kang, Sau Cheung, Arthur L Beaudet, Pawel Stankiewicz Molecular Cytogenetics 2012, 5:17 (5 April 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
Palma Finelli, Silvia M Sirchia, Maura Masciadri, Milena Crippa, Maria P Recalcati, Daniela Rusconi, Daniela Giardino, Laura Monti, Francesca Cogliati, Francesca Faravelli, Federica Natacci, Leonardo Zoccante, Bernardo Dalla Bernardina, Silvia Russo, Liadia Larizza Molecular Cytogenetics 2012, 5:16 (4 April 2012)
Abstract | Provisional PDF
| PubMed
|
|
|
|
Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
Elisabeth Klein, Marina Manvelyan, Isabella Simonyan, Ahmed B Hamid, Roberta Guilherme, Thomas Liehr, Tatyana Karamysheva Molecular Cytogenetics 2012, 5:15 (14 March 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
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
|
|
|
|
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
Ashutosh Halder, Manish Jain, Isha Chaudhary, Binuja Varma Molecular Cytogenetics 2012, 5:13 (13 March 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
Stavros Sifakis, Emmanouil Manolakos, Annalisa Vetro, Dimitra Kappou, Panagiotis Peitsidis, Maria Kontodiou, Antonios Garas, Nikolaos Vrachnis, Anastasia Konstandinidou, Orsetta Zuffardi, Sandro Orru, Ioannis Papoulidis Molecular Cytogenetics 2012, 5:12 (28 February 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
High rates of de novo 15q11q13 inversions in human spermatozoa
Òscar Molina, Ester Anton, Francesca Vidal, Joan Blanco Molecular Cytogenetics 2012, 5:11 (6 February 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
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
|
|
|
|
"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
Maryam Rafati, Elaheh Seyyedaboutorabi, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Gholam Javadi, Jila Dastan, Alireza Mosavi-Jarrahi, Azadeh Hoseini, Marzieh Purhoseini, Saeed R Ghaffari Molecular Cytogenetics 2012, 5:9 (29 January 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
Karin Huijsdens-van Amsterdam, Daniela QCM Barge-Schaapveld, Inge B Mathijssen, Mariëlle Alders, Eva Pajkrt, Alida C Knegt Molecular Cytogenetics 2012, 5:8 (27 January 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
Angelique JA Kooper, Jacqueline JPM Pieters, Brigitte HW Faas, Lies H Hoefsloot, Ineke van der Burgt, Hans A Zondervan, Arie PT Smits Molecular Cytogenetics 2012, 5:7 (27 January 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
A recurrent translocation is mediated by homologous recombination between HERV-H elements
Karen E Hermetz, Urvashi Surti, Jannine D Cody, M Katharine Rudd Molecular Cytogenetics 2012, 5:6 (19 January 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
Mileny ES Colovati, Luciana RJ da Silva, Sylvia S Takeno, Tatiane I Mancini, Ana R N Dutra, Roberta S Guilherme, Cláudia B de Mello, Maria I Melaragno, Ana B A Perez Molecular Cytogenetics 2012, 5:5 (19 January 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements
Maryam Rafati, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Jila Dastan, Azadeh Hoseini, Marzieh Purhoseini, Saeed R Ghaffari Molecular Cytogenetics 2012, 5:4 (19 January 2012)
Abstract | Full text | PDF | PubMed
|
|
|
|
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
Arturo Anguiano, Boris T Wang, Shirong R Wang, Fatih Z Boyar, Loretta W Mahon, Mohamed M El Naggar, Peter H Kohn, Mary H Haddadin, Vladimira Sulcova, Adam H Sbeiti, Mervat S Ayad, Beverly J White, Charles M Strom Molecular Cytogenetics 2012, 5:3 (16 January 2012)
Abstract | Full text | PDF | PubMed
|