Works matching IS 17558166 AND DT 2012 AND VI 5 AND IP 1

Results: 46

Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 1, doi. 10.1186/1755-8166-5-44

By:

Dai, Zunyan;
Kelly, JoAnn C.;
Meloni-Ehrig, Aurelia;
Slovak, Marilyn L.;
Boles, Debra;
Christacos, Nicole C.;
Bryke, Christine R.;
Schonberg, Steven A.;
Otani-Rosa, Jennifer;
Pan, Qiulu;
Ho, Albert K.;
Sanders, Heather R.;
Zhang, Zhong J.;
Jones, Dan;
Mowrey, Philip N.

Publication type:

Article

Prolonged exposure to acid and bile induces chromosome abnormalities that precede malignant transformation of benign Barrett's epithelium.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 1, doi. 10.1186/1755-8166-5-43

By:

Bajpai, Manisha;
Aviv, Hana;
Das, Kiron M.

Publication type:

Article

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 46, doi. 10.1186/1755-8166-5-46

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Kurinnaia, Oxana S.;
Zelenova, Maria A.;
Silvanovich, Alexandra P.;
Yurov, Yuri B.

Publication type:

Article

Chromosome mapping of repetitive sequences in Anostomidae species: implications for genomic and sex chromosome evolution.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 45, doi. 10.1186/1755-8166-5-45

By:

Lourenço da Silva, Edson;
Splendore de Borba, Rafael;
Pasquali Parise-Maltempi, Patrícia

Publication type:

Article

Correction: The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 42, doi. 10.1186/1755-8166-5-42

By:

de Bello Cioffi, Marcelo;
Kejnovský, Eduard;
Marquioni, Vinicius;
Poltronieri, Juliana;
Molina, Wagner F.;
Diniz, Débora;
Bertollo, Luiz Antonio C.

Publication type:

Article

Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 41, doi. 10.1186/1755-8166-5-41

By:

Zakaria, Zubaidah;
Fadly Md Ahid, Mohd;
Ismail, Azli;
Ten Sew Keoh;
Mohamad Nor, Nooraisyah;
Rizan Kamaluddin, Nor;
Esa, Ezalia;
Lam Kah Yuen;
Juraida Abdul Rahman, Eni;
Osman, Raudhawati

Publication type:

Article

Activation of the two microRNA clusters C19MC and miR-371-3 does not play prominent role in thyroid cancer.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 40, doi. 10.1186/1755-8166-5-40

By:

Rippe, Volkhard;
Flor, Inga;
Wolfram Debler, Johannes;
Drieschner, Norbert;
Rommel, Birgit;
Krause, Daniel;
Junker, Klaus;
Bullerdiek, Jörn

Publication type:

Article

Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 39, doi. 10.1186/1755-8166-5-39

By:

Marletta, Cristina;
Valli, Roberto;
Pressato, Barbara;
Mare, Lydia;
Montalbano, Giuseppe;
Menna, Giuseppe;
Loffredo, Giuseppe;
Ester Bernardo, Maria;
Vinti, Luciana;
Ferrari, Simona;
Di Cesare-Merlone, Alessandra;
Zecca, Marco;
Lo Curto, Francesco;
Locatelli, Franco;
Pasquali, Francesco;
Maserati, Emanuela

Publication type:

Article

Chromosome abnormalities in Indonesian patients with short stature.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 35, doi. 10.1186/1755-8166-5-35

By:

Paramayuda, Chrysantine;
Kartapradja, Hannie;
Ambarwati, Debby D.;
Anggaratri, Helena W.;
Suciati, Lita P.;
Marzuki, Nanis S.;
Harahap, Alida

Publication type:

Article

Cytomolecular characterization of de novo formed rye B chromosome variants.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 34, doi. 10.1186/1755-8166-5-34

By:

Marques, André;
Klemme, Sonja;
Guerra, Marcelo;
Houben, Andreas

Publication type:

Article

Characterization of telomeric repeats in metaphase chromosomes and interphase nuclei of Syrian Hamster Fibroblasts.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 37, doi. 10.1186/1755-8166-5-37

By:

Solovjeva, Liudmila V.;
Ju Demin, Sergey;
Pleskach, Nadezhda M.;
Kuznetsova, Maria O.;
Svetlova, Maria P.

Publication type:

Article

Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 33, doi. 10.1186/1755-8166-5-33

By:

Jinsong Gao;
Congcong Liu;
Fengxia Yao;
Na Hao;
Jing Zhou;
Qian Zhou;
Liang Zhang;
Xinyan Liu;
Xuming Bian;
Juntao Liu

Publication type:

Article

Neocentric X-chromosome in a girl with Turner-like syndrome.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 29, doi. 10.1186/1755-8166-5-29

By:

Hemmat, Morteza;
Wang, Boris T.;
Warburton, Peter E.;
Yang, Xiaojing;
Boyar, Fatih Z.;
El Naggar, Mohammed;
Anguiano, Arturo

Publication type:

Article

Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 26, doi. 10.1186/1755-8166-5-26

By:

Hu, Xiaoxia;
Chen, Haiying;
Jin, Meishan;
Wang, Xianfu;
Lee, Jiyun;
Xu, Weihong;
Zhang, Rui;
Li, Shibo;
Niu, Junqi

Publication type:

Article

BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 23, doi. 10.1186/1755-8166-5-23

By:

Elnaggar, Mohamed M.;
Agersborg, Sally;
Sahoo, Trilochan;
Girgin, Ati;
Ma, Wanlong;
Rakkhit, Ronjay;
Zorrilla, Isabel;
Leal, Alexis

Publication type:

Article

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 38, doi. 10.1186/1755-8166-5-38

By:

Filges, Isabel;
Kang, Anjeung;
Klug, Vanessa;
Wenzel, Friedel;
Heinimann, Karl;
Tercanli, Sevgi;
Miny, Peter

Publication type:

Article

A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 36, doi. 10.1186/1755-8166-5-36

By:

Al-achkar, Walid;
Wafa, Abdulsamad;
Moassass, Faten;
Abdullah Kassem Othman, Moneeb

Publication type:

Article

Investigating the role of X chromosome breakpoints in premature ovarian failure.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 32, doi. 10.1186/1755-8166-5-32

By:

Baronchelli, Simona;
Villa, Nicoletta;
Redaelli, Serena;
Lissoni, Sara;
Saccheri, Fabiana;
Panzeri, Elena;
Conconi, Donatella;
Bentivegna, Angela;
Crosti, Francesca;
Sala, Elena;
Bertola, Francesca;
Marozzi, Anna;
Pedicini, Antonio;
Ventruto, Marialuisa;
Adalgisa Police, Maria;
Dalpr, Leda

Publication type:

Article

The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 28, doi. 10.1186/1755-8166-5-28

By:

de Bello Cioffi, Marcelo;
Kejnovski, Eduard;
Marquioni, Vinicius;
Poltronieri, Juliana;
Franco Molina, Wagner;
Diniz, Dbora;
Bertollo, Luiz Antonio Carlos

Publication type:

Article

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 25, doi. 10.1186/1755-8166-5-25

By:

Ferreira, Susana Isabel;
Matoso, Eunice;
Venncio, Margarida;
Saraiva, Jorge;
Melo, Joana B.;
Marques Carreira, Isabel

Publication type:

Article

A novel unbalanced de novo translocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 21, doi. 10.1186/1755-8166-5-21

By:

Kjeldsen, Eigil;
Stidsholt Roug, Anne

Publication type:

Article

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 31, doi. 10.1186/1755-8166-5-31

By:

Di Bartolo, Daniel L;
Naggar, Mohamed El;
Owen, Renius;
Sahoo, Trilochan;
Gilbert, Fred;
Pulijaal, Venkat R;
Mathew, Susan

Publication type:

Article

Analysis of ZAP70 expression in adult acute lymphoblastic leukaemia by real time quantitative PCR.

Published in:

Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 22, doi. 10.1186/1755-8166-5-22

By:

Chakupurakal, Geothy;
Bell, Andrew;
Griffiths, Mike;
Wandroo, Farooq;
Moss, Paul

Publication type:

Article

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.

Published in:: 2012
Publication type:: Case Study

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.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 24, doi. 10.1186/1755-8166-5-24
Publication type:: Article

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.

Published in:: 2012
Publication type:: Case Study

Exosome-delivered microRNAs of "chromosome 19 microRNA cluster" as immunomodulators in pregnancy and tumorigenesis.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 27, doi. 10.1186/1755-8166-5-27
Publication type:: Article

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 19, doi. 10.1186/1755-8166-5-19
Publication type:: Article

Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

Published in:: 2012
Publication type:: Case Study

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 17, doi. 10.1186/1755-8166-5-17
Publication type:: Article

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 16, doi. 10.1186/1755-8166-5-16
Publication type:: Article

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 14, doi. 10.1186/1755-8166-5-14
Publication type:: Article

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.

Published in:: 2012
Publication type:: Case Study

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene.

Published in:: 2012
Publication type:: Case Study

Centromeric association of small supernumerary marker chromosomes with their sisterchromosomes detected by three dimensional molecular cytogenetics.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 15, doi. 10.1186/1755-8166-5-15
Publication type:: Article

High rates of de novo 15q11q13 inversions in human spermatozoa.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 11, doi. 10.1186/1755-8166-5-11
Publication type:: Article

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

Published in:: 2012
Publication type:: Case Study

CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 10, doi. 10.1186/1755-8166-5-10
Publication type:: Article

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.

Published in:: 2012
Publication type:: Case Study

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 7, doi. 10.1186/1755-8166-5-7
Publication type:: Article

A recurrent translocation is mediated by homologous recombination between HERV-H elements.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 6, doi. 10.1186/1755-8166-5-6
Publication type:: Article

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 3, doi. 10.1186/1755-8166-5-3
Publication type:: Article

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 9, doi. 10.1186/1755-8166-5-9
Publication type:: Article

"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.

Published in:: Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 4, doi. 10.1186/1755-8166-5-4
Publication type:: Article

Isochromosome 13 in a patient with childhoodonset schizophrenia, ADHD, and motor tic disorder.

Published in:: 2012
Publication type:: Case Study

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.

Published in:

2012

By:

Palumbo, Orazio;
Palumbo, Pietro;
Palladino, Teresa;
Stallone, Raffaella;
Zelante, Leopoldo;
Carella, Massimo

Publication type:

Case Study