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Volume 3; Issue 1
Main
Molecular Cytogenetics
Volume 3; Issue 1
Molecular Cytogenetics
Volume 3; Issue 1
1
Human interphase chromosomes: a review of available molecular cytogenetic technologies
Svetlana G Vorsanova
,
Yuri B Yurov
,
Ivan Y Iourov
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 2.07 MB
Your tags:
english, 2010
2
Derivative chromosome 1 andGLUT1deficiency syndrome in a sibling pair
Dilek Aktas
,
Eda G Utine
,
Kristin Mrasek
,
Anja Weise
,
Ferdinand von Eggeling
,
Kalbiye Yalaz
,
Nicole Posorski
,
Nurten Akarsu
,
Mehmet Alikasifoglu
,
Thomas Liehr
,
Ergul Tuncbilek
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 2.27 MB
Your tags:
english, 2010
3
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
Nicholas J Neill
,
Beth S Torchia
,
Bassem A Bejjani
,
Lisa G Shaffer
,
Blake C Ballif
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.86 MB
Your tags:
english, 2010
4
Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1translocation: a case report
Marina Pacheco
,
Douglas E Horsman
,
Malcolm M Hayes
,
Paul W Clarkson
,
Hassan Huwait
,
Torsten O Nielsen
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.89 MB
Your tags:
english, 2010
5
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
Lars T van der Veken
,
Marianne MJ Dieleman
,
Hannie Douben
,
Judith C van de Brug
,
Raoul van de Graaf
,
A Jeannette M Hoogeboom
,
Pino J Poddighe
,
Annelies de Klein
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 2.41 MB
Your tags:
english, 2010
6
X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation
Susana I Ferreira
,
Eunice Matoso
,
Marta Pinto
,
Joana Almeida
,
Thomas Liehr
,
Joana B Melo
,
Isabel M Carreira
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 790 KB
Your tags:
english, 2010
7
Genomic amplification ofBCR/ABL1and a region downstream ofABL1in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines
Anna Virgili
,
Elisabeth P Nacheva
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 2.95 MB
Your tags:
english, 2010
8
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
Christel Eckmann-Scholz
,
Stefan Gesk
,
Inga Nagel
,
Andrea Haake
,
Susanne Bens
,
Simone Heidemann
,
Monika Kautza
,
Christian Timke
,
Reiner Siebert
,
Almuth Caliebe
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 709 KB
Your tags:
english, 2010
9
Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology
Galina G Hovhannisyan
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 677 KB
Your tags:
english, 2010
10
Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl
Walid Al Achkar
,
Abdulsamad Wafa
,
Faten Moassass
,
Thomas Liehr
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2010
11
MLPA for confirmation of array CGH results and determination of inheritance
Alison Hills
,
Joo Wook Ahn
,
Celia Donaghue
,
Helen Thomas
,
Kathy Mann
,
Caroline Mackie Ogilvie
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 785 KB
Your tags:
english, 2010
12
Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis
Leoni Xanthopoulou
,
Anna Mantzouratou
,
Anastasia Mania
,
Suzanne Cawood
,
Alpesh Doshi
,
Domenico M Ranieri
,
Joy DA Delhanty
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.34 MB
Your tags:
english, 2010
13
Comparison of mitotic cell death by chromosome fragmentation to premature chromosome condensation
Joshua B Stevens
,
Batoul Y Abdallah
,
Sarah M Regan
,
Guo Liu
,
Steven W Bremer
,
Christine J Ye
,
Henry H Heng
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.28 MB
Your tags:
english, 2010
14
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
Judith Frohnauer
,
Almuth Caliebe
,
Stefan Gesk
,
Carl-Joachim Partsch
,
Reiner Siebert
,
Rainer Pankau
,
Jutta Jenderny
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 919 KB
Your tags:
english, 2010
15
The use of array-CGH in a cohort of Greek children with developmental delay
Emmanouil Manolakos
,
Annalisa Vetro
,
Konstantinos Kefalas
,
Stamatia-Maria Rapti
,
Eirini Louizou
,
Antonios Garas
,
George Kitsos
,
Lefteris Vasileiadis
,
Panagiota Tsoplou
,
Makarios Eleftheriades
,
Panagio
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.77 MB
Your tags:
english, 2010
16
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes
Marilyn L Slovak
,
David D Smith
,
Victoria Bedell
,
Ya-Hsuan Hsu
,
Margaret O'Donnell
,
Stephen J Forman
,
Karl Gaal
,
Lisa McDaniel
,
Roger Schultz
,
Blake C Ballif
,
Lisa G Shaffer
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.75 MB
Your tags:
english, 2010
17
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
Paola Evangelidou
,
Carolina Sismani
,
Marios Ioannides
,
Christodoulos Christodoulou
,
George Koumbaris
,
Ioannis Kallikas
,
Ioannis Georgiou
,
Voula Velissariou
,
Philippos C Patsalis
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 763 KB
Your tags:
english, 2010
18
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
John CK Barber
,
Dave Bunyan
,
Merryl Curtis
,
Denise Robinson
,
Susanne Morlot
,
Anette Dermitzel
,
Thomas Liehr
,
Claudia Alves
,
Joana Trindade
,
Ana I Paramos
,
Clare Cooper
,
Kevin Ocraft
,
Emma-Jane Taylor
,
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1.63 MB
Your tags:
english, 2010
19
On the paternal origin of trisomy 21 Down syndrome
Maj A Hultén
,
Suketu D Patel
,
Magnus Westgren
,
Nikos Papadogiannakis
,
Anna Maria Jonsson
,
Jon Jonasson
,
Erik Iwarsson
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 306 KB
Your tags:
english, 2010
20
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
Anna Polityko
,
Olga Khurs
,
Natalia Rumyantseva
,
Irina Naumchik
,
Nadezda Kosyakova
,
Holger Tönnies
,
Karl Sperling
,
Heidemarie Neitzel
,
Anja Weise
,
Thomas Liehr
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 806 KB
Your tags:
english, 2010
21
A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3
Walid Al Achkar
,
Abdulsamad Wafa
,
Hasmik Mkrtchyan
,
Faten Moassass
,
Thomas Liehr
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 462 KB
Your tags:
english, 2010
22
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
Natalia V Kovaleva
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 225 KB
Your tags:
english, 2010
23
Cytogenetic contribution to uniparental disomy (UPD)
Thomas Liehr
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 671 KB
Your tags:
english, 2010
24
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
Joo Wook Ahn
,
Kathy Mann
,
Sally Walsh
,
Marwa Shehab
,
Sarah Hoang
,
Zoe Docherty
,
Shehla Mohammed
,
Caroline Mackie Ogilvie
Journal:
Molecular Cytogenetics
Year:
2010
Language:
english
File:
PDF, 1003 KB
Your tags:
english, 2010
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