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Volume 5; Issue 1
Main
Molecular Cytogenetics
Volume 5; Issue 1
Molecular Cytogenetics
Volume 5; Issue 1
1
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report
Orazio Palumbo
,
Pietro Palumbo
,
Teresa Palladino
,
Raffaella Stallone
,
Leopoldo Zelante
,
Massimo Carella
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 207 KB
Your tags:
english, 2012
2
Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder
Sharon L Graw
,
Karen Swisshelm
,
Kirsten Floyd
,
Billie J Carstens
,
Marianne Z Wamboldt
,
Randall G Ross
,
Sherry Leonard
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 385 KB
Your tags:
english, 2012
3
"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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 158 KB
Your tags:
english, 2012
4
"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 Reza Javadi
,
Jila Dastan
,
Alireza Mosavi-Jarrahi
,
A
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 124 KB
Your tags:
english, 2012
5
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 872 KB
Your tags:
english, 2012
6
High rates of de novo 15q11q13 inversions in human spermatozoa
Òscar Molina
,
Ester Anton
,
Francesca Vidal
,
Joan Blanco
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 733 KB
Your tags:
english, 2012
7
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
,
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 342 KB
Your tags:
english, 2012
8
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
Ashutosh Halder
,
Manish Jain
,
Isha Chaudhary
,
Binuja Varma
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 245 KB
Your tags:
english, 2012
9
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
,
Dia
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 119 KB
Your tags:
english, 2012
10
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 Santos Guilherme
,
Thomas Liehr
,
Tatyana Karamysheva
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 572 KB
Your tags:
english, 2012
11
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
,
Cha
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 240 KB
Your tags:
english, 2012
12
A recurrent translocation is mediated by homologous recombination between HERV-H elements
Karen E Hermetz
,
Urvashi Surti
,
Jannine D Cody
,
M Katharine Rudd
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 221 KB
Your tags:
english, 2012
13
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2012
14
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 149 KB
Your tags:
english, 2012
15
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 Maria Sirchia, Maura Masciadri, Milena Crippa, Maria Paola Recalcati, Daniela Rusconi, Daniela Giardino, Laura Monti, Francesca Cogliati, Francesca Faravelli, Federica Natacci, L
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 520 KB
Your tags:
english, 2012
16
Deletions in chromosome 6p22.3-p24.3, includingATXN1, 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, Joan
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 592 KB
Your tags:
english, 2012
17
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 188 KB
Your tags:
english, 2012
18
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 645 KB
Your tags:
english, 2012
19
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 410 KB
Your tags:
english, 2012
20
A novel unbalancedde novotranslocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia
Eigil Kjeldsen, Anne Stidsholt Roug
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 506 KB
Your tags:
english, 2012
21
Analysis ofZAP70expression in adult acute lymphoblastic leukaemia by real time quantitative PCR
Geothy Chakupurakal, Andrew Bell, Mike Griffiths, Farooq Wandroo, Paul Moss
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2012
22
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, Wanlong Ma, Ronjay Rakkhit, Isabel Zorrilla, Alexis Leal
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 2012
23
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 723 KB
Your tags:
english, 2012
24
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 798 KB
Your tags:
english, 2012
25
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 752 KB
Your tags:
english, 2012
26
Exosome-delivered microRNAs of “chromosome 19 microRNA cluster” as immunomodulators in pregnancy and tumorigenesis
Jörn Bullerdiek, Inga Flor
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 190 KB
Your tags:
english, 2012
27
The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system
Marcelo de Bello Cioffi, Eduard Kejnovský, Vinicius Marquioni, Juliana Poltronieri, Wagner Franco Molina, Débora Diniz, Luiz Antonio Carlos Bertollo
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 1.00 MB
Your tags:
english, 2012
28
Neocentric X-chromosome in a girl with Turner-like syndrome
Morteza Hemmat, Boris T Wang, Peter E Warburton, Xiaojing Yang, Fatih Z Boyar, Mohammed El Naggar, Arturo Anguiano
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 370 KB
Your tags:
english, 2012
29
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
Milene Vianna Mulatinho, Cassio Luiz de Carvalho Serao, Fernanda Scalco, David Hardekopf, Sona Pekova, Kristin Mrasek, Thomas Liehr, Anja Weise, Nagesh Rao, Juan Clinton Llerena Jr
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 244 KB
Your tags:
english, 2012
30
Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies
Daniel L Di Bartolo, Mohamed El Naggar, Renius Owen, Trilochan Sahoo, Fred Gilbert, Venkat R Pulijaal, Susan Mathew
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 358 KB
Your tags:
english, 2012
31
Investigating the role of X chromosome breakpoints in premature ovarian failure
Simona Baronchelli, Nicoletta Villa, Serena Redaelli, Sara Lissoni, Fabiana Saccheri, Elena Panzeri, Donatella Conconi, Angela Bentivegna, Francesca Crosti, Elena Sala, Francesca Bertola, Anna Marozzi
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 432 KB
Your tags:
english, 2012
32
Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion
Jinsong Gao, Congcong Liu, Fengxia Yao, Na Hao, Jing Zhou, Qian Zhou, Liang Zhang, Xinyan Liu, Xuming Bian, Juntao Liu
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 183 KB
Your tags:
english, 2012
33
Cytomolecular characterization ofde novoformed rye B chromosome variants
André Marques, Sonja Klemme, Marcelo Guerra, Andreas Houben
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 483 KB
Your tags:
english, 2012
34
Chromosome abnormalities in Indonesian patients with short stature
Chrysantine Paramayuda, Hannie Kartapradja, Debby D Ambarwati, Helena W Anggaratri, Lita P Suciati, Nanis S Marzuki, Alida Harahap
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 310 KB
Your tags:
english, 2012
35
A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia
Walid Al-achkar, Abdulsamad Wafa, Faten Moassass, Moneeb Abdullah Kassem Othman
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 501 KB
Your tags:
english, 2012
36
Characterization of telomeric repeats in metaphase chromosomes and interphase nuclei of Syrian Hamster Fibroblasts
Liudmila V Solovjeva, Sergey Ju Demin, Nadezhda M Pleskach, Maria O Kuznetsova, Maria P Svetlova
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 1.06 MB
Your tags:
english, 2012
37
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies
Isabel Filges, Anjeung Kang, Vanessa Klug, Friedel Wenzel, Karl Heinimann, Sevgi Tercanli, Peter Miny
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2012
38
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment ofRUNX1andMPLgenes
Cristina Marletta, Roberto Valli, Barbara Pressato, Lydia Mare, Giuseppe Montalbano, Giuseppe Menna, Giuseppe Loffredo, Maria Ester Bernardo, Luciana Vinti, Simona Ferrari, Alessandra Di Cesare-Merlon
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 591 KB
Your tags:
english, 2012
39
Activation of the two microRNA clusters C19MC and miR-371-3 does not play prominent role in thyroid cancer
Volkhard Rippe, Inga Flor, Johannes Wolfram Debler, Norbert Drieschner, Birgit Rommel, Daniel Krause, Klaus Junker, Jörn Bullerdiek
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 649 KB
Your tags:
english, 2012
40
Chromosomal Aberrations inETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization
Zubaidah Zakaria, Mohd Fadly Md Ahid, Azli Ismail, Ten Sew Keoh, Nooraisyah Mohamad Nor, Nor Rizan Kamaluddin, Ezalia Esa, Lam Kah Yuen, Eni Juraida Abdul Rahman, Raudhawati Osman
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 196 KB
Your tags:
english, 2012
41
Correction: The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system
Marcel de Bello Cioffi, Eduard Kejnovský, Vinicius Marquioni, Juliana Poltronieri, Wagner F Molina, Débora Diniz, Luiz Antonio C Bertollo
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 275 KB
Your tags:
english, 2012
42
Chromosome mapping of repetitive sequences in Anostomidae species: implications for genomic and sex chromosome evolution
Edson Lourenço da Silva, Rafael Splendore de Borba, Patrícia Pasquali Parise-Maltempi
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 1.06 MB
Your tags:
english, 2012
43
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies
Ivan Y Iourov, Svetlana G Vorsanova, Oxana S Kurinnaia, Maria A Zelenova, Alexandra P Silvanovich, Yuri B Yurov
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 400 KB
Your tags:
english, 2012
44
Marfan syndrome with a complex chromosomal rearrangement including deletion of theFBN1gene
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
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 307 KB
Your tags:
english, 2012
45
Incidence and patterns ofALKFISH abnormalities seen in a large unselected series of lung carcinomas
Zunyan Dai, JoAnn C Kelly, Aurelia Meloni-Ehrig, Marilyn L Slovak…
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 532 KB
Your tags:
english, 2012
46
Prolonged exposure to acid and bile induces chromosome abnormalities that precede malignant transformation of benign Barrett’s epithelium
Manisha Bajpai, Hana Aviv, Kiron M Das
Journal:
Molecular Cytogenetics
Year:
2012
Language:
english
File:
PDF, 236 KB
Your tags:
english, 2012
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