Works matching IS 17558166 AND DT 2009 AND VI 2
Results: 24
Autistic disorder associated with a paternally derived unbalancedtranslocation leading to duplication of chromosome 15pter-q13.2: acase report.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 27, doi. 10.1186/1755-8166-2-27
- Publication type:
- Article
Detailed molecular and clinical investigation of a child with a partialdeletion of chromosome 11 (Jacobsen syndrome).
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 26, doi. 10.1186/1755-8166-2-26
- Publication type:
- Article
Meiotic segregation and interchromosomal effect in the sperm of adouble translocation carrier: a case report.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 24, doi. 10.1186/1755-8166-2-24
- Publication type:
- Article
Chromosome r(10)(p15.3q26.12) in a newborn child: case report.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 25, doi. 10.1186/1755-8166-2-25
- Publication type:
- Article
GIN'n'CIN hypothesis of brain aging: deciphering the role ofsomatic genetic instabilities and neural aneuploidy during ontogeny.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 23, doi. 10.1186/1755-8166-2-23
- Publication type:
- Article
A small supernumerary marker chromosome present in a Turnersyndrome patient not derived from X- or Y-chromosome: a casereport.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 22, doi. 10.1186/1755-8166-2-22
- Publication type:
- Article
Novel complex translocation involving 5 different chromosomes ina chronic myeloid leukemia with Philadelphia chromosome: a casereport.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 21, doi. 10.1186/1755-8166-2-21
- Publication type:
- Article
Detailed analysis of X chromosome inactivation in a 49,XXXXXpentasomy.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 20, doi. 10.1186/1755-8166-2-20
- Publication type:
- Article
Chromosome territories, X;Y translocation and PrematureOvarian Failure: is there a relationship?
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 19, doi. 10.1186/1755-8166-2-19
- Publication type:
- Article
Candidate metastasis suppressor genes uncovered by arraycomparative genomic hybridization in a mouse allograft model ofprostate cancer.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 18, doi. 10.1186/1755-8166-2-18
- Publication type:
- Article
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 17, doi. 10.1186/1755-8166-2-17
- Publication type:
- Article
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 16, doi. 10.1186/1755-8166-2-16
- Publication type:
- Article
Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 15, doi. 10.1186/1755-8166-2-15
- Publication type:
- Article
Clinically abnormal case with paternally derived partial trisomy8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a casereport.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 14, doi. 10.1186/1755-8166-2-14
- Publication type:
- Article
New sequence-based data on the relative DNA contents ofchromosomes in the normal male and female human diploidgenomes for radiation molecular cytogenetics.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 13, doi. 10.1186/1755-8166-2-13
- Publication type:
- Article
Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cells.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-12
- By:
- Publication type:
- Article
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-11
- By:
- Publication type:
- Article
Identification of genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-10
- By:
- Publication type:
- Article
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocyte leukemia.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-7
- By:
- Publication type:
- Article
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-5
- By:
- Publication type:
- Article
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.
- Published in:
- 2009
- By:
- Publication type:
- Case Study