| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)
|
Paar, Christian
|
|
2013
|
6 |
1 |
|
artikel
|
| 2 |
Acquired del(9)(p22.3) in a primary plasma cell leukemia
|
Achkar, Walid Al
|
|
2013
|
6 |
1 |
|
artikel
|
| 3 |
A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints
|
Al-achkar, Walid
|
|
2013
|
6 |
1 |
|
artikel
|
| 4 |
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
|
Qi, Qingwei
|
|
2013
|
6 |
1 |
|
artikel
|
| 5 |
A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
|
Gimelli, Stefania
|
|
2013
|
6 |
1 |
|
artikel
|
| 6 |
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
|
Ahn, Joo Wook
|
|
2013
|
6 |
1 |
|
artikel
|
| 7 |
A specific family of interspersed repeats (SINEs) facilitates meiotic synapsis in mammals
|
Johnson, Matthew E
|
|
2013
|
6 |
1 |
|
artikel
|
| 8 |
Atypical rearrangement involving 3′-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression
|
Amarillo, Ina
|
|
2013
|
6 |
1 |
|
artikel
|
| 9 |
Banding cytogenetic analysis in pediatric patients with acute lymphoblastic leukemia (ALL) in a Brazilian population
|
Gil, Erica Aires
|
|
2013
|
6 |
1 |
|
artikel
|
| 10 |
Body maps on the human genome
|
Cherniak, Christopher
|
|
2013
|
6 |
1 |
|
artikel
|
| 11 |
Characterization of a case of follicular lymphoma transformed into B-lymphoblastic leukemia
|
Ning, Yi
|
|
2013
|
6 |
1 |
|
artikel
|
| 12 |
Chromosomal evolution of rDNA and H3 histone genes in representative Romaleidae grasshoppers from northeast Brazil
|
Neto, Marcos S Regueira
|
|
2013
|
6 |
1 |
|
artikel
|
| 13 |
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter
|
Sheth, Frenny
|
|
2013
|
6 |
1 |
|
artikel
|
| 14 |
Chromosomal mapping of microsatellite repeats in the rock bream fish Oplegnathus fasciatus, with emphasis of their distribution in the neo-Y chromosome
|
Xu, Dongdong
|
|
2013
|
6 |
1 |
|
artikel
|
| 15 |
Chromosomal organization and evolutionary history of Mariner transposable elements in Scarabaeinae coleopterans
|
Oliveira, Sarah G
|
|
2013
|
6 |
1 |
|
artikel
|
| 16 |
Complex small supernumerary marker chromosomes – an update
|
Liehr, Thomas
|
|
2013
|
6 |
1 |
|
artikel
|
| 17 |
Comprehensive chromosome analysis of blastocysts before implantation using array CGH
|
Chung, Mi Kyung
|
|
2013
|
6 |
1 |
|
artikel
|
| 18 |
Cytogenetic analysis in the neotropical fish Astyanax goyacensis Eigenmann, 1908 (Characidae, incertae sedis): karyotype description and occurrence of B microchromosomes
|
dos Santos, Luana Pereira
|
|
2013
|
6 |
1 |
|
artikel
|
| 19 |
Cytogenetic analysis in three Bryconamericus species (Characiformes, Characidae): first description of the 5S rDNA-bearing chromosome pairs in the genus
|
Piscor, Diovani
|
|
2013
|
6 |
1 |
|
artikel
|
| 20 |
De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus
|
Tan, Ene-Choo
|
|
2013
|
6 |
1 |
|
artikel
|
| 21 |
De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
|
Yamamoto, Toshiyuki
|
|
2013
|
6 |
1 |
|
artikel
|
| 22 |
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
|
Castronovo, Chiara
|
|
2013
|
6 |
1 |
|
artikel
|
| 23 |
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms
|
Valli, Roberto
|
|
2013
|
6 |
1 |
|
artikel
|
| 24 |
Direct DNA and PNA probe binding to telomeric regions without classical in situ hybridization
|
Genet, Matthew D
|
|
2013
|
6 |
1 |
|
artikel
|
| 25 |
Distinct mechanism of formation of the 48, XXYY karyotype
|
Balsera, Aránzazu Margallo
|
|
2013
|
6 |
1 |
|
artikel
|
| 26 |
Down-regulation of miR-181c in imatinib-resistant chronic myeloid leukemia
|
Mosakhani, Neda
|
|
2013
|
6 |
1 |
|
artikel
|
| 27 |
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases
|
Horváth, Emese
|
|
2013
|
6 |
1 |
|
artikel
|
| 28 |
Extending Barrett’s esophagus cancer risk profile towards genetic abnormalities
|
Asari, Reza
|
|
2013
|
6 |
1 |
|
artikel
|
| 29 |
First detailed reconstruction of the karyotype of Trachypithecus cristatus (Mammalia: Cercopithecidae)
|
Xiaobo, Fan
|
|
2013
|
6 |
1 |
|
artikel
|
| 30 |
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray
|
Fan, Yao-Shan
|
|
2013
|
6 |
1 |
|
artikel
|
| 31 |
Generation of multicolor banding probes for chromosomes of different species
|
Kosyakova, Nadezda
|
|
2013
|
6 |
1 |
|
artikel
|
| 32 |
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
|
Hoppman, Nicole
|
|
2013
|
6 |
1 |
|
artikel
|
| 33 |
Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
|
Hemmat, Morteza
|
|
2013
|
6 |
1 |
|
artikel
|
| 34 |
Heteromorphic variants of chromosome 9
|
Kosyakova, Nadezda
|
|
2013
|
6 |
1 |
|
artikel
|
| 35 |
Individual karyotypes at the origins of cervical carcinomas
|
McCormack, Amanda
|
|
2013
|
6 |
1 |
|
artikel
|
| 36 |
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
|
Schlegelberger, Brigitte
|
|
2013
|
6 |
1 |
|
artikel
|
| 37 |
Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations
|
Zhao, Wei-Wei
|
|
2013
|
6 |
1 |
|
artikel
|
| 38 |
Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature
|
Hemmat, Morteza
|
|
2013
|
6 |
1 |
|
artikel
|
| 39 |
Karyotype and cytogenetic mapping of 9 classes of repetitive DNAs in the genome of the naked catfish Mystus bocourti (Siluriformes, Bagridae)
|
Supiwong, Weerayuth
|
|
2013
|
6 |
1 |
|
artikel
|
| 40 |
Karyotypic analysis and FISH mapping of microsatellite motifs reveal highly differentiated XX/XY sex chromosomes in the pink-tailed worm-lizard (Aprasia parapulchella, Pygopodidae, Squamata)
|
Matsubara, Kazumi
|
|
2013
|
6 |
1 |
|
artikel
|
| 41 |
Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure
|
Beke, Artur
|
|
2013
|
6 |
1 |
|
artikel
|
| 42 |
Molecular Cytogenetics: the first impact factor (2.36)
|
Liehr, Thomas
|
|
2013
|
6 |
1 |
|
artikel
|
| 43 |
Molecular topography of the MED12-deleted region in smooth muscle tumors: a possible link between non-B DNA structures and hypermutability
|
Markowski, Dominique Nadine
|
|
2013
|
6 |
1 |
|
artikel
|
| 44 |
Multicolor banding remains an important adjunct to array CGH and conventional karyotyping
|
Bint, Susan M
|
|
2013
|
6 |
1 |
|
artikel
|
| 45 |
Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability
|
Pohovski, Leona Morozin
|
|
2013
|
6 |
1 |
|
artikel
|
| 46 |
Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review
|
Gancheva, Katya
|
|
2013
|
6 |
1 |
|
artikel
|
| 47 |
Myxoid liposarcoma in a 91-year-old patient
|
Sheffield, Brandon S
|
|
2013
|
6 |
1 |
|
artikel
|
| 48 |
On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma
|
Lipska, Beata S
|
|
2013
|
6 |
1 |
|
artikel
|
| 49 |
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
|
Di Benedetto, Daniela
|
|
2013
|
6 |
1 |
|
artikel
|
| 50 |
Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease
|
Singh, Nisha R
|
|
2013
|
6 |
1 |
|
artikel
|
| 51 |
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH
|
Manolakos, Emmanouil
|
|
2013
|
6 |
1 |
|
artikel
|
| 52 |
Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event
|
Genesio, Rita
|
|
2013
|
6 |
1 |
|
artikel
|
| 53 |
7q36 deletion and 9p22 duplication: effects of a double imbalance
|
Pelegrino, Karla de Oliveira
|
|
2013
|
6 |
1 |
|
artikel
|
| 54 |
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3
|
Baroncini, Anna
|
|
2013
|
6 |
1 |
|
artikel
|
| 55 |
1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation
|
Hu, Ping
|
|
2013
|
6 |
1 |
|
artikel
|
| 56 |
Reviewer acknowledgement 2013
|
Liehr, Thomas
|
|
2013
|
6 |
1 |
|
artikel
|
| 57 |
Selection of euploid blastocysts for cryopreservation with array comparative genomic hybridization (aCGH) results in increased implantation rates in subsequent frozen and thawed embryo transfer cycles
|
Yang, Zhihong
|
|
2013
|
6 |
1 |
|
artikel
|
| 58 |
The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns
|
Park, Sang-Jin
|
|
2013
|
6 |
1 |
|
artikel
|
| 59 |
The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges
|
BoonPeng, Hoh
|
|
2013
|
6 |
1 |
|
artikel
|
| 60 |
Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines
|
Kim, Young Mi
|
|
2013
|
6 |
1 |
|
artikel
|
| 61 |
Will we cure cancer by sequencing thousands of genomes?
|
Nicholson, Joshua M
|
|
2013
|
6 |
1 |
|
artikel
|
| 62 |
Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease
|
Iourov, Ivan Y
|
|
2013
|
6 |
1 |
|
artikel
|
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