| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report
|
Ogilvie, Caroline Mackie
|
|
2009
|
2 |
1 |
|
artikel
|
| 2 |
Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report
|
de Vree, Paula JP
|
|
2009
|
2 |
1 |
|
artikel
|
| 3 |
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
|
Sheth, Frenny
|
|
2009
|
2 |
1 |
|
artikel
|
| 4 |
Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report
|
Wu, David J
|
|
2009
|
2 |
1 |
|
artikel
|
| 5 |
Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells
|
Erlecke, Jörn
|
|
2009
|
2 |
1 |
|
artikel
|
| 6 |
Candidate metastasis suppressor genes uncovered by array comparative genomic hybridization in a mouse allograft model of prostate cancer
|
Yi, Yajun
|
|
2009
|
2 |
1 |
|
artikel
|
| 7 |
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
|
Kitsiou-Tzeli, Sofia
|
|
2009
|
2 |
1 |
|
artikel
|
| 8 |
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
|
Kitsiou-Tzeli, Sofia
|
|
2009
|
2 |
1 |
|
artikel
|
| 9 |
Chromosome r(10)(p15.3q26.12) in a newborn child: case report
|
Gunnarsson, Cecilia
|
|
2009
|
2 |
1 |
|
artikel
|
| 10 |
Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?
|
Lissoni, Sara
|
|
2009
|
2 |
1 |
|
artikel
|
| 11 |
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
|
Aktas, Dilek
|
|
2009
|
2 |
1 |
|
artikel
|
| 12 |
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
|
Moraes, Lucia M
|
|
2009
|
2 |
1 |
|
artikel
|
| 13 |
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
|
Manolakos, Emmanouil
|
|
2009
|
2 |
1 |
|
artikel
|
| 14 |
GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny
|
Yurov, Yuri B
|
|
2009
|
2 |
1 |
|
artikel
|
| 15 |
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
|
Haj, Roland
|
|
2009
|
2 |
1 |
|
artikel
|
| 16 |
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
|
Auber, Bernd
|
|
2009
|
2 |
1 |
|
artikel
|
| 17 |
Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier
|
Mantzouratou, Anna
|
|
2009
|
2 |
1 |
|
artikel
|
| 18 |
Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report
|
Juchniuk de Vozzi, Maria S
|
|
2009
|
2 |
1 |
|
artikel
|
| 19 |
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
|
Traylor, Ryan N
|
|
2009
|
2 |
1 |
|
artikel
|
| 20 |
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA
|
Yeshaya, Josepha
|
|
2009
|
2 |
1 |
|
artikel
|
| 21 |
MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes
|
Bhoj, Elizabeth J
|
|
2009
|
2 |
1 |
|
artikel
|
| 22 |
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy
|
Carreira, Isabel M
|
|
2009
|
2 |
1 |
|
artikel
|
| 23 |
New sequence-based data on the relative DNA contents of chromosomes in the normal male and female human diploid genomes for radiation molecular cytogenetics
|
Repin, Mikhail V
|
|
2009
|
2 |
1 |
|
artikel
|
| 24 |
Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report
|
Al Achkar, Walid
|
|
2009
|
2 |
1 |
|
artikel
|
| 25 |
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report
|
Almind, Gitte J
|
|
2009
|
2 |
1 |
|
artikel
|
| 26 |
The hierarchically organized splitting of chromosomal bands for all human chromosomes
|
Kosyakova, Nadezda
|
|
2009
|
2 |
1 |
|
artikel
|
| 27 |
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
|
Silva, Maria Luiza Macedo
|
|
2009
|
2 |
1 |
|
artikel
|
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