| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Activation of the two microRNA clusters C19MC and miR-371-3 does not play prominent role in thyroid cancer
|
Rippe, Volkhard
|
|
2012
|
5 |
1 |
|
artikel
|
| 2 |
Analysis of ZAP70 expression in adult acute lymphoblastic leukaemia by real time quantitative PCR
|
Chakupurakal, Geothy
|
|
2012
|
5 |
1 |
|
artikel
|
| 3 |
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report
|
Palumbo, Orazio
|
|
2012
|
5 |
1 |
|
artikel
|
| 4 |
A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia
|
Al-achkar, Walid
|
|
2012
|
5 |
1 |
|
artikel
|
| 5 |
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
|
Yokota, Sho
|
|
2012
|
5 |
1 |
|
artikel
|
| 6 |
A novel unbalanced de novo translocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia
|
Kjeldsen, Eigil
|
|
2012
|
5 |
1 |
|
artikel
|
| 7 |
A recurrent translocation is mediated by homologous recombination between HERV-H elements
|
Hermetz, Karen E
|
|
2012
|
5 |
1 |
|
artikel
|
| 8 |
Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion
|
Gao, Jinsong
|
|
2012
|
5 |
1 |
|
artikel
|
| 9 |
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies
|
Filges, Isabel
|
|
2012
|
5 |
1 |
|
artikel
|
| 10 |
BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease
|
Elnaggar, Mohamed M
|
|
2012
|
5 |
1 |
|
artikel
|
| 11 |
Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
|
Klein, Elisabeth
|
|
2012
|
5 |
1 |
|
artikel
|
| 12 |
CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens
|
MacKinnon, Ruth N
|
|
2012
|
5 |
1 |
|
artikel
|
| 13 |
Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies
|
Di Bartolo, Daniel L
|
|
2012
|
5 |
1 |
|
artikel
|
| 14 |
Characterization of telomeric repeats in metaphase chromosomes and interphase nuclei of Syrian Hamster Fibroblasts
|
Solovjeva, Liudmila V
|
|
2012
|
5 |
1 |
|
artikel
|
| 15 |
Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization
|
Zakaria, Zubaidah
|
|
2012
|
5 |
1 |
|
artikel
|
| 16 |
Chromosome abnormalities in Indonesian patients with short stature
|
Paramayuda, Chrysantine
|
|
2012
|
5 |
1 |
|
artikel
|
| 17 |
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
|
Marletta, Cristina
|
|
2012
|
5 |
1 |
|
artikel
|
| 18 |
Chromosome mapping of repetitive sequences in Anostomidae species: implications for genomic and sex chromosome evolution
|
da Silva, Edson Lourenço
|
|
2012
|
5 |
1 |
|
artikel
|
| 19 |
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
|
Halder, Ashutosh
|
|
2012
|
5 |
1 |
|
artikel
|
| 20 |
Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
|
Li, Deling
|
|
2012
|
5 |
1 |
|
artikel
|
| 21 |
Correction: The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system
|
Cioffi, Marcelo de Bello
|
|
2012
|
5 |
1 |
|
artikel
|
| 22 |
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region
|
Ferreira, Susana Isabel
|
|
2012
|
5 |
1 |
|
artikel
|
| 23 |
Cytomolecular characterization of de novo formed rye B chromosome variants
|
Marques, André
|
|
2012
|
5 |
1 |
|
artikel
|
| 24 |
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
|
Celestino-Soper, Patrícia BS
|
|
2012
|
5 |
1 |
|
artikel
|
| 25 |
Exosome-delivered microRNAs of “chromosome 19 microRNA cluster” as immunomodulators in pregnancy and tumorigenesis
|
Bullerdiek, Jörn
|
|
2012
|
5 |
1 |
|
artikel
|
| 26 |
"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
|
Rafati, Maryam
|
|
2012
|
5 |
1 |
|
artikel
|
| 27 |
"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements
|
Rafati, Maryam
|
|
2012
|
5 |
1 |
|
artikel
|
| 28 |
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
|
Srebniak, Malgorzata I
|
|
2012
|
5 |
1 |
|
artikel
|
| 29 |
High rates of de novo 15q11q13 inversions in human spermatozoa
|
Molina, Òscar
|
|
2012
|
5 |
1 |
|
artikel
|
| 30 |
Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas
|
Dai, Zunyan
|
|
2012
|
5 |
1 |
|
artikel
|
| 31 |
Investigating the role of X chromosome breakpoints in premature ovarian failure
|
Baronchelli, Simona
|
|
2012
|
5 |
1 |
|
artikel
|
| 32 |
Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder
|
Graw, Sharon L
|
|
2012
|
5 |
1 |
|
artikel
|
| 33 |
Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
|
Kooper, Angelique JA
|
|
2012
|
5 |
1 |
|
artikel
|
| 34 |
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
|
Finelli, Palma
|
|
2012
|
5 |
1 |
|
artikel
|
| 35 |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
|
Colovati, Mileny ES
|
|
2012
|
5 |
1 |
|
artikel
|
| 36 |
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
|
Robberecht, Caroline
|
|
2012
|
5 |
1 |
|
artikel
|
| 37 |
Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review
|
Hu, Xiaoxia
|
|
2012
|
5 |
1 |
|
artikel
|
| 38 |
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies
|
Iourov, Ivan Y
|
|
2012
|
5 |
1 |
|
artikel
|
| 39 |
Neocentric X-chromosome in a girl with Turner-like syndrome
|
Hemmat, Morteza
|
|
2012
|
5 |
1 |
|
artikel
|
| 40 |
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
|
Huijsdens-van Amsterdam, Karin
|
|
2012
|
5 |
1 |
|
artikel
|
| 41 |
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
|
Sifakis, Stavros
|
|
2012
|
5 |
1 |
|
artikel
|
| 42 |
Prolonged exposure to acid and bile induces chromosome abnormalities that precede malignant transformation of benign Barrett’s epithelium
|
Bajpai, Manisha
|
|
2012
|
5 |
1 |
|
artikel
|
| 43 |
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
|
Yang, Zhihong
|
|
2012
|
5 |
1 |
|
artikel
|
| 44 |
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
|
Mulatinho, Milene Vianna
|
|
2012
|
5 |
1 |
|
artikel
|
| 45 |
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
|
Anguiano, Arturo
|
|
2012
|
5 |
1 |
|
artikel
|
| 46 |
The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system
|
de Bello Cioffi, Marcelo
|
|
2012
|
5 |
1 |
|
artikel
|
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