Works matching IS 17558166 AND DT 2010 AND VI 3

Results: 24

Clinical application of whole-genome array CGHduring prenatal diagnosis: Study of 25 selectedpregnancies with abnormal ultrasound findingsor apparently balanced structural aberrations.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 24, doi. 10.1186/1755-8166-3-24

By:

Evangelidou, Paola;
Sismani, Carolina;
Ioannides, Marios;
Christodoulou, Christodoulos;
Koumbaris, George;
Kallikas, Ioannis;
Georgiou, Ioannis;
Velissariou, Voula;
Patsalis, Philippos C.

Publication type:

Article

Assessing karyotype precision by microarraybasedcomparative genomic hybridization in themyelodysplastic/myeloproliferative syndromes.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 23, doi. 10.1186/1755-8166-3-23

By:

Slovak, Marilyn L.;
Smith, David D.;
Bedell, Victoria;
Ya-Hsuan Hsu;
O'Donnell, Margaret;
Forman, Stephen J.;
Gaal, Karl;
McDaniel, Lisa;
Schultz, Roger;
Ballif, Blake C.;
Shaffer, Lisa G.

Publication type:

Article

The use of array-CGH in a cohort of Greek children with developmental delay.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 22, doi. 10.1186/1755-8166-3-22

By:

Manolakos, Emmanouil;
Vetro, Annalisa;
Kefalas, Konstantinos;
Rapti, Stamatia-Maria;
Louizou, Eirini;
Garas, Antonios;
Kitsos, George;
Vasileiadis, Lefteris;
Tsoplou, Panagiota;
Eleftheriades, Makarios;
Peitsidis, Panagiotis;
Orru, Sandro;
Liehr, Thomas;
Petersen, Michael B.;
Thomaidis, Loretta

Publication type:

Article

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patientswith Williams-Beuren syndrome as compared to a population control.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 21, doi. 10.1186/1755-8166-3-21

By:

Frohnauer, Judith;
Caliebe, Almuth;
Gesk, Stefan;
Partsch, Carl-Joachim;
Siebert, Reiner;
Pankau, Rainer;
Jenderny, Jutta

Publication type:

Article

Comparison of mitotic cell death by chromosome fragmentation to premature chromosome condensation.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 20, doi. 10.1186/1755-8166-3-20

By:

Stevens, Joshua B.;
Abdallah, Batoul Y.;
Regan, Sarah M.;
Guo Liu;
Bremer, Steven W.;
Ye, Christine J.;
Heng, Henry H.

Publication type:

Article

MLPA for confirmation of array CGH results and determination of inheritance.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 19, doi. 10.1186/1755-8166-3-19

By:

Hills, Alison;
Joo Wook Ahn;
Donaghue, Celia;
Thomas, Helen;
Mann, Kathy;
Ogilvie, Caroline Mackie

Publication type:

Article

Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 18, doi. 10.1186/1755-8166-3-18

By:

Achkar, Walid Al;
Wafa, Abdulsamad;
Moassass, Faten;
Liehr, Thomas

Publication type:

Article

Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 17, doi. 10.1186/1755-8166-3-17

By:

Hovhannisyan, Galina G.

Publication type:

Article

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novodel(21)(q22) characterised by molecular karyotyping: Case report.

Published in:

2010

By:

Eckmann-Scholz, Christel;
Gesk, Stefan;
Nagel, Inga;
Haake, Andrea;
Bens, Susanne;
Heidemann, Simone;
Kautza, Monika;
Timke, Christian;
Siebert, Reiner;
Caliebe, Almuth

Publication type:

Case Study

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.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 15, doi. 10.1186/1755-8166-3-15

By:

Virgili, Anna;
Nacheva, Elisabeth P.

Publication type:

Article

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 14, doi. 10.1186/1755-8166-3-14

By:

Ferreira, Susana I.;
Matoso, Eunice;
Pinto, Marta;
Almeida, Joana;
Liehr, Thomas;
Melo, Joana B.;
Carreira, Isabel M.

Publication type:

Article

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with patient congenital anomalies.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 13, doi. 10.1186/1755-8166-3-13

By:

van der Veken, Lars T.;
Dieleman, Marianne M. J.;
Douben, Hannie;
van de Brug, Judith C.;
van de Graaf, Raoul;
Hoogeboom, A. Jeannette M.;
Poddighe, Pino J.;
de Klein, Annelies

Publication type:

Article

Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report.

Published in:

2010

By:

Pacheco, Marina;
Horsman, Douglas E.;
Hayes, Malcolm M.;
Clarkson, Paul W.;
Huwait, Hassan;
Nielsen, Torsten O.

Publication type:

Case Study

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CHG.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 11, doi. 10.1186/1755-8166-3-11

By:

Neill, Nicholas J.;
Torchia, Beth S.;
Bejjani, Bassem A.;
Shaffer, Lisa G.;
Ballif, Blake C.

Publication type:

Article

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 10, doi. 10.1186/1755-8166-3-10

By:

Aktas, Dilek;
Utine, Eda G.;
Mrasek, Kristin;
Weise, Anja;
von Eggeling, Ferdinand;
Yalaz, Kalbiye;
Posorski, Nicole;
Akarsu, Nurten;
Alikasifoglu, Mehmet;
Liehr, Thomas;
Tuncbilek, Ergul

Publication type:

Article

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 9, doi. 10.1186/1755-8166-3-9

By:

Ahn, Joo Wook;
Mann, Kathy;
Walsh, Sally;
Shehab, Marwa;
Hoang, Sarah;
Docherty, Zoe;
Mohammed, Shehla;
Ogilvie, Caroline Mackie

Publication type:

Article

Cytogenetic contribution to uniparental disomy(UPD).

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 8, doi. 10.1186/1755-8166-3-8

By:

Liehr, Thomas

Publication type:

Article

Germ-line transmission of trisomy 21: Data from80 families suggest an implication ofgrandmaternal age and a high frequency offemale-specific trisomy rescue.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 7, doi. 10.1186/1755-8166-3-7

By:

Kovaleva, Natalia V.

Publication type:

Article

A rare case of chronic myeloid leukemia withsecondary chromosomal changes includingpartial trisomy 17q21 to 17qter and partialmonosomy of 16p13.3.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 6, doi. 10.1186/1755-8166-3-6

By:

Achkar, Walid Al;
Wafa, Abdulsamad;
Mkrtchyan, Hasmik;
Moassass, Faten;
Liehr, Thomas

Publication type:

Article

Two siblings with immunodeficiency, facialabnormalities and chromosomal instabilitywithout mutation in DNMT3B gene but liabilitytowards malignancy; a new chromatin disorderdelineation?

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 5, doi. 10.1186/1755-8166-3-5

By:

Polityko, Anna;
Khurs, Olga;
Rumyantseva, Natalia;
Naumchik, Irina;
Kosyakova, Nadezda;
Tönnies, Holger;
Sperling, Karl;
Neitzel, Heidemarie;
Weise, Anja;
Liehr, Thomas

Publication type:

Article

On the paternal origin of trisomy 21 Downsyndrome.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 4, doi. 10.1186/1755-8166-3-4

By:

Hultén, Maj A.;
Patel, Suketu D.;
Westgren, Magnus;
Papadogiannakis, Nikos;
Jonsson, Anna Maria;
Jonasson, Jon;
Iwarsson, Erik

Publication type:

Article

8p23.1 duplication syndrome differentiated fromcopy number variation of the defensin cluster atprenatal diagnosis in four new families.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 3, doi. 10.1186/1755-8166-3-3

By:

Barber, John C. K.;
Bunyan, Dave;
Curtis, Merryl;
Robinson, Denise;
Morlot, Susanne;
Dermitzel, Anette;
Liehr, Thomas;
Alves, Claudia;
Trindade, Joana;
Paramos, Ana I.;
Cooper, Clare;
Ocraft, Kevin;
Taylor, Emma-Jane;
Maloney, Viv K.

Publication type:

Article

Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 1, doi. 10.1186/1755-8166-3-2

By:

Xanthopoulou, Leoni;
Mantzouratou, Anna;
Mania, Anastasia;
Cawood, Suzanne;
Doshi, Alpesh;
Ranieri, Domenico M.;
Delhanty, Joy D. A.

Publication type:

Article

Human interphase chromosomes: a review of available molecular cytogenetic technologies.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 1, doi. 10.1186/1755-8166-3-1

By:

Vorsanova, Svetlana G.;
Yurov, Yuri B.;
Iourov, Ivan Y.

Publication type:

Article