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 |