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  1. The goal of this study was to investigate ERBB2(HER2) and EGFR gene amplification and protein expression in gastric cancer. Fluorescence in situ hybridization (FISH) and immunohistochemistry were used to analyze

    Authors: Wang YK, Gao CF, Yun T, Chen Z, Zhang XW, Lv XX, Meng NL and Zhao WZ
    Citation: Molecular Cytogenetics 2011 4:14
  2. The results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH), but in mosaicis...

    Authors: Roberto Valli, Cristina Marletta, Barbara Pressato, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali and Emanuela Maserati
    Citation: Molecular Cytogenetics 2011 4:13
  3. Array comparative genomic hybridization (CGH) is currently the most powerful method for detecting chromosomal alterations in pre and postnatal clinical cases. In this study, we developed a BAC based array CGH ...

    Authors: Sang-Jin Park, Eun Hye Jung, Ran-Suk Ryu, Hyun Woong Kang, Jung-Min Ko, Hyon J Kim, Chong Kun Cheon, Sang-Hyun Hwang and Ho-Young Kang
    Citation: Molecular Cytogenetics 2011 4:12
  4. Authors: Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen and Sofia Kitsiou-Tzeli
    Citation: Molecular Cytogenetics 2011 4:11

    The original article was published in Molecular Cytogenetics 2011 4:6

  5. Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish ...

    Authors: Jawaher Al-Zahrani, Naji Al-Dosari, Nada AbuDheim, Tarfa A Alshidi, Dilek Colak, Ola Al-Habit, Ali Al-Odaib, Nadia Sakati, Brian Meyer, Pinar T Ozand and Namik Kaya
    Citation: Molecular Cytogenetics 2011 4:9
  6. The chromosomal translocation (11;14)(q13;q32) rearranging the locus for cyclin D1 (CCND1) to that of the immunoglobulin heavy chain (IGH) can be found in virtually all cases of mantle cell lymphoma (MCL), while ...

    Authors: Cristiano Krings Rocha, Inka Praulich, Iris Gehrke, Michael Hallek and Karl-Anton Kreuzer
    Citation: Molecular Cytogenetics 2011 4:8
  7. Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, sug...

    Authors: Colleen A Morris, Carolyn B Mervis and Lucy R Osborne
    Citation: Molecular Cytogenetics 2011 4:7
  8. Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes...

    Authors: Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen and Sofia Kitsiou-Tzeli
    Citation: Molecular Cytogenetics 2011 4:6
  9. Chronic lymphocytic leukemia (CLL) is a highly variable disease with life expectancies ranging from months to decades. Cytogenetic findings play an integral role in defining the prognostic significance and tre...

    Authors: Roger A Schultz, Maria Delioukina, Karl Gaal, Victoria Bedell, David D Smith, Stephen J Forman, Lisa D McDaniel, Blake C Ballif, Lisa G Shaffer and Marilyn L Slovak
    Citation: Molecular Cytogenetics 2011 4:4
  10. To evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this genomic analysis to 30 cases (13 MDS an...

    Authors: Renu Bajaj, Fang Xu, Bixia Xiang, Katherine Wilcox, Autumn J DiAdamo, Rachana Kumar, Alexandra Pietraszkiewicz, Stephanie Halene and Peining Li
    Citation: Molecular Cytogenetics 2011 4:3
  11. Small supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. These marker chromosomes may c...

    Authors: Diane Van Opstal, Marjan Boter, Petra Noomen, Malgorzata Srebniak, Guus Hamers and Robert-Jan H Galjaard
    Citation: Molecular Cytogenetics 2011 4:2
  12. Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases ...

    Authors: Marina Manvelyan, Friedrich W Cremer, Jeannette Lancé, Rüdiger Kläs, Christina Kelbova, Christian Ramel, Herbert Reichenbach, Catharina Schmidt, Elisabeth Ewers, Katharina Kreskowski, Monika Ziegler, Nadezda Kosyakova and Thomas Liehr
    Citation: Molecular Cytogenetics 2011 4:1
  13. The purpose of the study was the application and evaluation of array Comparative Genomic Hybridization (array CGH) in selected cases during prenatal diagnosis. Array CGH was applied in 25 fetal samples out of ...

    Authors: Paola Evangelidou, Carolina Sismani, Marios Ioannides, Christodoulos Christodoulou, George Koumbaris, Ioannis Kallikas, Ioannis Georgiou, Voula Velissariou and Philippos C Patsalis
    Citation: Molecular Cytogenetics 2010 3:24
  14. Recent genome-wide microarray-based research investigations have revealed a high frequency of submicroscopic copy number alterations (CNAs) in the myelodysplastic syndromes (MDS), suggesting microarray-based c...

    Authors: 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 and Lisa G Shaffer
    Citation: Molecular Cytogenetics 2010 3:23
  15. The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for ...

    Authors: Emmanouil Manolakos, Annalisa Vetro, Konstantinos Kefalas, Stamatia-Maria Rapti, Eirini Louizou, Antonios Garas, George Kitsos, Lefteris Vasileiadis, Panagiota Tsoplou, Makarios Eleftheriades, Panagiotis Peitsidis, Sandro Orru, Thomas Liehr, Michael B Petersen and Loretta Thomaidis
    Citation: Molecular Cytogenetics 2010 3:22
  16. Typical Williams-Beuren syndrome (WBS) is commonly caused by a ~1.5 Mb - ~1.8 Mb heterozygous deletion of contiguous genes at chromosome region 7q11.23. The majority of WBS cases occurs sporadically but few fa...

    Authors: Judith Frohnauer, Almuth Caliebe, Stefan Gesk, Carl-Joachim Partsch, Reiner Siebert, Rainer Pankau and Jutta Jenderny
    Citation: Molecular Cytogenetics 2010 3:21
  17. Mitotic cell death is an important form of cell death, particularly in cancer. Chromosome fragmentation is a major form of mitotic cell death which is identifiable during common cytogenetic analysis by its uni...

    Authors: Joshua B Stevens, Batoul Y Abdallah, Sarah M Regan, Guo Liu, Steven W Bremer, Christine J Ye and Henry H Heng
    Citation: Molecular Cytogenetics 2010 3:20
  18. Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of p...

    Authors: Alison Hills, Joo Wook Ahn, Celia Donaghue, Helen Thomas, Kathy Mann and Caroline Mackie Ogilvie
    Citation: Molecular Cytogenetics 2010 3:19
  19. Partial trisomy of the short arm of chromosome 9 is among the most common autosomal structural chromosomal anomalies leading to chromosomal imbalance in human. Clinical characteristics are craniofacial dysmorp...

    Authors: Walid Al Achkar, Abdulsamad Wafa, Faten Moassass and Thomas Liehr
    Citation: Molecular Cytogenetics 2010 3:18
  20. For the rapid detection of common aneuploidies either PCR or Fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells are widely used. There are different commercial suppliers providing FIS...

    Authors: Christel Eckmann-Scholz, Stefan Gesk, Inga Nagel, Andrea Haake, Susanne Bens, Simone Heidemann, Monika Kautza, Christian Timke, Reiner Siebert and Almuth Caliebe
    Citation: Molecular Cytogenetics 2010 3:16
  21. Chronic myeloid leukaemia (CML) is characterized by the expression of the BCR/ABL1 fusion gene, a constitutively activated tyrosine kinase that commonly results from the formation of the Philadelphia (Ph) chromos...

    Authors: Anna Virgili and Elisabeth P Nacheva
    Citation: Molecular Cytogenetics 2010 3:15
  22. Premature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele's carrier women have an increased risk for POF. We intent to determine the cause of POF in a ...

    Authors: Susana I Ferreira, Eunice Matoso, Marta Pinto, Joana Almeida, Thomas Liehr, Joana B Melo and Isabel M Carreira
    Citation: Molecular Cytogenetics 2010 3:14
  23. Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genom...

    Authors: 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 and Annelies de Klein
    Citation: Molecular Cytogenetics 2010 3:13
  24. The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells with few distinguishing histologic features.

    Authors: Marina Pacheco, Douglas E Horsman, Malcolm M Hayes, Paul W Clarkson, Hassan Huwait and Torsten O Nielsen
    Citation: Molecular Cytogenetics 2010 3:12
  25. Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below t...

    Authors: Nicholas J Neill, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer and Blake C Ballif
    Citation: Molecular Cytogenetics 2010 3:11
  26. Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (...

    Authors: Dilek Aktas, Eda G Utine, Kristin Mrasek, Anja Weise, Ferdinand von Eggeling, Kalbiye Yalaz, Nicole Posorski, Nurten Akarsu, Mehmet Alikasifoglu, Thomas Liehr and Ergul Tuncbilek
    Citation: Molecular Cytogenetics 2010 3:10
  27. Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyot...

    Authors: Joo Wook Ahn, Kathy Mann, Sally Walsh, Marwa Shehab, Sarah Hoang, Zoe Docherty, Shehla Mohammed and Caroline Mackie Ogilvie
    Citation: Molecular Cytogenetics 2010 3:9
  28. Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connecti...

    Authors: Thomas Liehr
    Citation: Molecular Cytogenetics 2010 3:8
  29. Trisomy of chromosome 21 (T21; Down syndrome, DS) is the most common aneuploidy in live births. Though its etiology has been intensively studied for a half of century, there are surprisingly many problems awai...

    Authors: Natalia V Kovaleva
    Citation: Molecular Cytogenetics 2010 3:7
  30. The so-called Philadelphia (Ph) chromosome is present in almost all cases with chronic myeloid leukemia (CML). Around 5-10% of these patients show complex translocations involving other chromosomes in addition...

    Authors: Walid Al Achkar, Abdulsamad Wafa, Hasmik Mkrtchyan, Faten Moassass and Thomas Liehr
    Citation: Molecular Cytogenetics 2010 3:6
  31. ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransfera...

    Authors: Anna Polityko, Olga Khurs, Natalia Rumyantseva, Irina Naumchik, Nadezda Kosyakova, Holger Tönnies, Karl Sperling, Heidemarie Neitzel, Anja Weise and Thomas Liehr
    Citation: Molecular Cytogenetics 2010 3:5
  32. Down syndrome (DS), characterized by an extra free chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 originates ...

    Authors: Maj A Hultén, Suketu D Patel, Magnus Westgren, Nikos Papadogiannakis, Anna Maria Jonsson, Jon Jonasson and Erik Iwarsson
    Citation: Molecular Cytogenetics 2010 3:4
  33. The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication...

    Authors: 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 and Viv K Maloney
    Citation: Molecular Cytogenetics 2010 3:3
  34. Two related family members, a female and a male balanced carrier of an intrachromosomal insertion on chromosome 7 were referred to our centre for preimplantation genetic diagnosis. This presented a rare opport...

    Authors: Leoni Xanthopoulou, Anna Mantzouratou, Anastasia Mania, Suzanne Cawood, Alpesh Doshi, Domenico M Ranieri and Joy DA Delhanty
    Citation: Molecular Cytogenetics 2010 3:2
  35. Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 dupl...

    Authors: David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman and N Carolyn Schanen
    Citation: Molecular Cytogenetics 2009 2:27
  36. Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been pr...

    Authors: Emmanouil Manolakos, Sandro Orru, Rosita Neroutsou, Konstantinos Kefalas, Eirini Louizou, Ioannis Papoulidis, Loretta Thomaidis, Panagiotis Peitsidis, Sotirios Sotiriou, George Kitsos, Panagiota Tsoplou, Michael B Petersen and Aikaterini Metaxotou
    Citation: Molecular Cytogenetics 2009 2:26
  37. Ring chromosome 10 is a rare cytogenetic finding. Of the less than 10 reported cases we have found in the literature, none was characterized using high-resolution microarray analysis. Ring chromosomes are freq...

    Authors: Cecilia Gunnarsson, Barbara Graffmann and Jon Jonasson
    Citation: Molecular Cytogenetics 2009 2:25
  38. Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This stud...

    Authors: Maria S Juchniuk de Vozzi, Silvio A Santos, Ciro S Pereira, Juliana F Cuzzi, Lucimar AF Laureano, José G Franco Jr and Lucia Martelli
    Citation: Molecular Cytogenetics 2009 2:24
  39. Genomic instability (GIN) and chromosome instability (CIN) are two closely related ways to produce a variety of pathogenic conditions, i.e. cancer, neurodegeneration, chromosomal and genomic diseases. The GIN ...

    Authors: Yuri B Yurov, Svetlana G Vorsanova and Ivan Y Iourov
    Citation: Molecular Cytogenetics 2009 2:23
  40. Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar.

    Authors: Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, Anja Weise, Jayesh Sheth, Manisha Desai, Joris Andrieux, Joris Vermeesch, Ahmed B Hamid, Monika Ziegler and Thomas Liehr
    Citation: Molecular Cytogenetics 2009 2:22
  41. The well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated w...

    Authors: Walid Al Achkar, Abdulsamad Wafa, Hasmik Mkrtchyan, Faten Moassass and Thomas Liehr
    Citation: Molecular Cytogenetics 2009 2:21
  42. Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a pa...

    Authors: Lucia M Moraes, Leila CA Cardoso, Vera LS Moura, Miguel AM Moreira, Albert N Menezes, Juan C Llerena Jr and Héctor N Seuánez
    Citation: Molecular Cytogenetics 2009 2:20
  43. Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases...

    Authors: Sara Lissoni, Simona Baronchelli, Nicoletta Villa, Valeria Lucchini, Enrico Betri, Pietro Cavalli and Leda Dalprà
    Citation: Molecular Cytogenetics 2009 2:19
  44. The purpose of this study was to identify candidate metastasis suppressor genes from a mouse allograft model of prostate cancer (NE-10). This allograft model originally developed metastases by twelve weeks aft...

    Authors: Yajun Yi, Srinivas Nandana, Thomas Case, Colleen Nelson, Tatjana Radmilovic, Robert J Matusik and Karen D Tsuchiya
    Citation: Molecular Cytogenetics 2009 2:18
  45. Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Repor...

    Authors: Ryan N Traylor, Zheng Fan, Beth Hudson, Jill A Rosenfeld, Lisa G Shaffer, Beth S Torchia and Blake C Ballif
    Citation: Molecular Cytogenetics 2009 2:17
  46. Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. As...

    Authors: Isabel M Carreira, Joana B Melo, Carlos Rodrigues, Liesbeth Backx, Joris Vermeesch, Anja Weise, Nadezda Kosyakova, Guiomar Oliveira and Eunice Matoso
    Citation: Molecular Cytogenetics 2009 2:16

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