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:

Erlecke, Jörn;
Hartmann, Isabell;
Hoffmann, Martin;
Kroll, Torsten;
Starke, Heike;
Heller, Anita;
Gloria, Alexander;
Sayer, Herbert G.;
Johannes, Tilman;
Claussen, Uwe;
Liehr, Thomas;
Loncarevic, Ivan F.

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:

Yeshaya, Josepha;
Amir, Itay;
Rimon, Ayelet;
Freedman, Jane;
Shohat, Mordechai;
Avivi, Lydia

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:

Auber, Bernd;
Bruemmer, Verena;
Zoll, Barbara;
Burfeind, Peter;
Boehm, Detlef;
Liehr, Thomas;
Brockmann, Knut;
Wilichowski, Ekkehard;
Argyriou, Loukas;
Bartels, Iris

Publication type:

Article

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.

Published in:

2009

By:

Ogilvie, Caroline Mackie;
Ahn, Joo Wook;
Mann, Kathy;
Roberts, Roland G.;
Flinter, Frances

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:

Kitsiou-Tzeli, Sofia;
Manolakos, Emmanouil;
Lagou, Magdalini;
Anagnostopoulou, Katerina;
Kontodiou, Maria;
Kosyakova, Nadezda;
Ewers, Elisabeth;
Weise, Anja;
Garas, Antonios;
Orru, Sandro;
Liehr, Thomas;
Metaxotou, Aikaterini

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:

Silva, Maria Luiza Macedo;
do Socorro Pombo-de-Oliveira, Maria;
Raimondi, Susana C.;
Mkrtchyan, Hasmik;
Abdelhay, Eliana;
de Figueiredo, Amanda Faria;
de Souza, Mariana Tavares;
Garcia, Daniela Ribeiro Ney;
de Ventura, Eliane Maria Soares;
de Sousa, Adriana Martins;
Liehr, Thomas

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:

Almind, Gitte J.;
Brøndum-Nielsen, Karen;
Bangsgaard, Regitze;
Baekgaard, Peter;
Grønskov, Karen

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:

Bhoj, Elizabeth J.;
Romeo, Stefano;
Baroni, Marco G.;
Bartov, Guy;
Schultz, Roger A.;
Zinn, Andrew R.

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:

Haj, Roland;
Jackson, Kelly;
Torchia, Beth A.;
Shaffer, Lisa G.;
Bejjani, Bassem A.;
Gowans, Gordon C.;
Ruff, Michael W.

Publication type:

Case Study