Literature DB >> 12070255

Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes.

A Weise1, H Starke, A Heller, H Tönnies, M Volleth, M Stumm, S Gabriele, A Nietzel, U Claussen, T Liehr.   

Abstract

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Year:  2002        PMID： 12070255      PMCID： PMC1735147          DOI： 10.1136/jmg.39.6.434

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  How to narrow down chromosomal breakpoints in small and large derivative chromosomes--a new probe set.

Authors:  Ahmed B Hamid; Katharina Kreskowski; Anja Weise; Nadezda Kosayakova; Kristin Mrasek; Martin Voigt; Roberta Santos Guilherme; Rebecca Wagner; David Hardekopf; Sona Pekova; Tatyana Karamysheva; Thomas Liehr; Elisabeth Klein
Journal:  J Appl Genet       Date:  2012-04-29       Impact factor: 3.240

2.  A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.

Authors:  Maria Bucksch; Monika Ziegler; Nadezda Kosayakova; Milene V Mulatinho; Milene V Mulhatino; Juan C Llerena; Susanne Morlot; Wolfgang Fischer; Anna D Polityko; Anna I Kulpanovich; Michael B Petersen; Britta Belitz; Vladimir Trifonov; Anja Weise; Thomas Liehr; Ahmed B Hamid
Journal:  J Histochem Cytochem       Date:  2012-04-17       Impact factor: 2.479

3.  Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set.

Authors:  Anja Weise; Kristin Mrasek; Ina Fickelscher; Uwe Claussen; Sau Wai Cheung; Wei Wen Cai; Thomas Liehr; Nadezda Kosyakova
Journal:  J Histochem Cytochem       Date:  2008-02-05       Impact factor: 2.479

4.  8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

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; Viv K Maloney
Journal:  Mol Cytogenet       Date:  2010-02-18       Impact factor: 2.009

5.  Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Authors:  Joanna Pietrzak; Kristin Mrasek; Ewa Obersztyn; Pawel Stankiewicz; Nadezda Kosyakova; Anja Weise; Sau Wai Cheung; Wei Wen Cai; Ferdinand von Eggeling; Tadeusz Mazurczak; Ewa Bocian; Thomas Liehr
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

6.  Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Authors:  Heike Starke; Angela Nietzel; Anja Weise; Anita Heller; Kristin Mrasek; Britta Belitz; Christine Kelbova; Marianne Volleth; Beate Albrecht; Beate Mitulla; Ralf Trappe; Iris Bartels; Sabine Adolph; Andreas Dufke; Sylke Singer; Markus Stumm; Rolf-Dieter Wegner; Jörg Seidel; Angela Schmidt; Alma Kuechler; Isolde Schreyer; Uwe Claussen; Ferdinand von Eggeling; Thomas Liehr
Journal:  Hum Genet       Date:  2003-09-16       Impact factor: 4.132

Review 7.  A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Authors:  Jörg Seidel; Anita Heller; Gabriele Senger; Heike Starke; Ilse Chudoba; Christina Kelbova; Holger Tönnies; Heidemarie Neitzel; Claudia Haase; Volkmar Beensen; Felix Zintl; Uwe Claussen; Thomas Liehr
Journal:  Eur J Pediatr       Date:  2003-06-19       Impact factor: 3.183

8.  A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia.

Authors:  Moneeb A K Othman; Martina Rincic; Joana B Melo; Isabel M Carreira; Eyad Alhourani; Friederike Hunstig; Anita Glaser; Thomas Liehr
Journal:  Leuk Res Treatment       Date:  2014-10-08

9.  Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.

Authors:  Chiara Castronovo; Emanuele Valtorta; Milena Crippa; Sara Tedoldi; Lorenza Romitti; Maria Cristina Amione; Silvana Guerneri; Daniela Rusconi; Lucia Ballarati; Donatella Milani; Enrico Grosso; Pietro Cavalli; Daniela Giardino; Maria Teresa Bonati; Lidia Larizza; Palma Finelli
Journal:  Mol Cytogenet       Date:  2013-10-30       Impact factor: 2.009
  9 in total

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