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Microdeletion and Microduplication Syndromes
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| Zeitschriftentitel: | Journal of Histochemistry & Cytochemistry |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , |
| In: | Journal of Histochemistry & Cytochemistry, 60, 2012, 5, S. 346-358 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
SAGE Publications
|
| Schlagwörter: |
| author_facet |
Weise, Anja Mrasek, Kristin Klein, Elisabeth Mulatinho, Milene Llerena, Juan C. Hardekopf, David Pekova, Sona Bhatt, Samarth Kosyakova, Nadezda Liehr, Thomas Weise, Anja Mrasek, Kristin Klein, Elisabeth Mulatinho, Milene Llerena, Juan C. Hardekopf, David Pekova, Sona Bhatt, Samarth Kosyakova, Nadezda Liehr, Thomas |
|---|---|
| author |
Weise, Anja Mrasek, Kristin Klein, Elisabeth Mulatinho, Milene Llerena, Juan C. Hardekopf, David Pekova, Sona Bhatt, Samarth Kosyakova, Nadezda Liehr, Thomas |
| spellingShingle |
Weise, Anja Mrasek, Kristin Klein, Elisabeth Mulatinho, Milene Llerena, Juan C. Hardekopf, David Pekova, Sona Bhatt, Samarth Kosyakova, Nadezda Liehr, Thomas Journal of Histochemistry & Cytochemistry Microdeletion and Microduplication Syndromes Histology Anatomy |
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weise, anja |
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Weise, Anja Mrasek, Kristin Klein, Elisabeth Mulatinho, Milene Llerena, Juan C. Hardekopf, David Pekova, Sona Bhatt, Samarth Kosyakova, Nadezda Liehr, Thomas 0022-1554 1551-5044 SAGE Publications Histology Anatomy http://dx.doi.org/10.1369/0022155412440001 <jats:p> The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. </jats:p> Microdeletion and Microduplication Syndromes Journal of Histochemistry & Cytochemistry |
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Microdeletion and Microduplication Syndromes |
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Microdeletion and Microduplication Syndromes |
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Microdeletion and Microduplication Syndromes |
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Microdeletion and Microduplication Syndromes |
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Microdeletion and Microduplication Syndromes |
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Microdeletion and Microduplication Syndromes |
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microdeletion and microduplication syndromes |
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Histology Anatomy |
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http://dx.doi.org/10.1369/0022155412440001 |
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2012 |
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346-358 |
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<jats:p> The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. </jats:p> |
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| author | Weise, Anja, Mrasek, Kristin, Klein, Elisabeth, Mulatinho, Milene, Llerena, Juan C., Hardekopf, David, Pekova, Sona, Bhatt, Samarth, Kosyakova, Nadezda, Liehr, Thomas |
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| description | <jats:p> The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. </jats:p> |
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| series | Journal of Histochemistry & Cytochemistry |
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| spelling | Weise, Anja Mrasek, Kristin Klein, Elisabeth Mulatinho, Milene Llerena, Juan C. Hardekopf, David Pekova, Sona Bhatt, Samarth Kosyakova, Nadezda Liehr, Thomas 0022-1554 1551-5044 SAGE Publications Histology Anatomy http://dx.doi.org/10.1369/0022155412440001 <jats:p> The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. </jats:p> Microdeletion and Microduplication Syndromes Journal of Histochemistry & Cytochemistry |
| spellingShingle | Weise, Anja, Mrasek, Kristin, Klein, Elisabeth, Mulatinho, Milene, Llerena, Juan C., Hardekopf, David, Pekova, Sona, Bhatt, Samarth, Kosyakova, Nadezda, Liehr, Thomas, Journal of Histochemistry & Cytochemistry, Microdeletion and Microduplication Syndromes, Histology, Anatomy |
| title | Microdeletion and Microduplication Syndromes |
| title_full | Microdeletion and Microduplication Syndromes |
| title_fullStr | Microdeletion and Microduplication Syndromes |
| title_full_unstemmed | Microdeletion and Microduplication Syndromes |
| title_short | Microdeletion and Microduplication Syndromes |
| title_sort | microdeletion and microduplication syndromes |
| title_unstemmed | Microdeletion and Microduplication Syndromes |
| topic | Histology, Anatomy |
| url | http://dx.doi.org/10.1369/0022155412440001 |