| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3
|
Al Achkar, Walid
|
|
2010
|
3 |
1 |
|
artikel
|
| 2 |
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes
|
Slovak, Marilyn L
|
|
2010
|
3 |
1 |
|
artikel
|
| 3 |
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
|
Evangelidou, Paola
|
|
2010
|
3 |
1 |
|
artikel
|
| 4 |
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
|
Neill, Nicholas J
|
|
2010
|
3 |
1 |
|
artikel
|
| 5 |
Comparison of mitotic cell death by chromosome fragmentation to premature chromosome condensation
|
Stevens, Joshua B
|
|
2010
|
3 |
1 |
|
artikel
|
| 6 |
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report
|
Eckmann-Scholz, Christel
|
|
2010
|
3 |
1 |
|
artikel
|
| 7 |
Cytogenetic contribution to uniparental disomy (UPD)
|
Liehr, Thomas
|
|
2010
|
3 |
1 |
|
artikel
|
| 8 |
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
|
Aktas, Dilek
|
|
2010
|
3 |
1 |
|
artikel
|
| 9 |
Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology
|
Hovhannisyan, Galina G
|
|
2010
|
3 |
1 |
|
artikel
|
| 10 |
Genomic amplification of BCR/ABL1 and a region downstream of ABL1 in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines
|
Virgili, Anna
|
|
2010
|
3 |
1 |
|
artikel
|
| 11 |
Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue
|
Kovaleva, Natalia V
|
|
2010
|
3 |
1 |
|
artikel
|
| 12 |
Human interphase chromosomes: a review of available molecular cytogenetic technologies
|
Vorsanova, Svetlana G
|
|
2010
|
3 |
1 |
|
artikel
|
| 13 |
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
|
van der Veken, Lars T
|
|
2010
|
3 |
1 |
|
artikel
|
| 14 |
Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis
|
Xanthopoulou, Leoni
|
|
2010
|
3 |
1 |
|
artikel
|
| 15 |
MLPA for confirmation of array CGH results and determination of inheritance
|
Hills, Alison
|
|
2010
|
3 |
1 |
|
artikel
|
| 16 |
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
|
Frohnauer, Judith
|
|
2010
|
3 |
1 |
|
artikel
|
| 17 |
On the paternal origin of trisomy 21 Down syndrome
|
Hultén, Maj A
|
|
2010
|
3 |
1 |
|
artikel
|
| 18 |
Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl
|
Al Achkar, Walid
|
|
2010
|
3 |
1 |
|
artikel
|
| 19 |
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
|
Barber, John CK
|
|
2010
|
3 |
1 |
|
artikel
|
| 20 |
Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report
|
Pacheco, Marina
|
|
2010
|
3 |
1 |
|
artikel
|
| 21 |
The use of array-CGH in a cohort of Greek children with developmental delay
|
Manolakos, Emmanouil
|
|
2010
|
3 |
1 |
|
artikel
|
| 22 |
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
|
Polityko, Anna
|
|
2010
|
3 |
1 |
|
artikel
|
| 23 |
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
|
Ahn, Joo Wook
|
|
2010
|
3 |
1 |
|
artikel
|
| 24 |
X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation
|
Ferreira, Susana I
|
|
2010
|
3 |
1 |
|
artikel
|
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