A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2
• The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2.
Gespeichert in:
| Autor*in: |
Siavrienė, Evelina [verfasserIn] |
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| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2020 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: 26957 A study of dermoscopic features in relation to vitiligo activity - Lee, Jae-Ho ELSEVIER, 2021, an international journal on genes, genomes and evolution, Amsterdam |
|---|---|
| Übergeordnetes Werk: |
volume:753 ; year:2020 ; day:30 ; month:08 ; pages:0 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.gene.2020.144816 |
|---|
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ELV050684019 |
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10.1016/j.gene.2020.144816 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001056.pica (DE-627)ELV050684019 (ELSEVIER)S0378-1119(20)30485-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.93 bkl Siavrienė, Evelina verfasserin aut A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 2020 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. LINC00410 Elsevier miRNAs Elsevier WES Elsevier FGLDS2 Elsevier FGLDS1 Elsevier OFC Elsevier aCGH Elsevier Cq Elsevier LINC00379 Elsevier CNVs Elsevier kb Elsevier cDNA Elsevier qPCR Elsevier PPIAP23 Elsevier BRK1P2 Elsevier GPC5 Elsevier RNU6-75P Elsevier ACTB Elsevier PAP-A2 Elsevier MiR-17~92 Cluster Elsevier LINC01049 Elsevier WISC-III Elsevier Mb Elsevier FISH Elsevier FC Elsevier LINC00380 Elsevier MIR17HG Elsevier Preikšaitienė, Eglė oth Maldžienė, Živilė oth Mikštienė, Violeta oth Rančelis, Tautvydas oth Ambrozaitytė, Laima oth Gueneau, Lucie oth Reymond, Alexandre oth Kučinskas, Vaidutis oth Enthalten in Elsevier Lee, Jae-Ho ELSEVIER 26957 A study of dermoscopic features in relation to vitiligo activity 2021 an international journal on genes, genomes and evolution Amsterdam (DE-627)ELV006417590 volume:753 year:2020 day:30 month:08 pages:0 https://doi.org/10.1016/j.gene.2020.144816 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.93 Dermatologie VZ AR 753 2020 30 0830 0 |
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10.1016/j.gene.2020.144816 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001056.pica (DE-627)ELV050684019 (ELSEVIER)S0378-1119(20)30485-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.93 bkl Siavrienė, Evelina verfasserin aut A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 2020 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. LINC00410 Elsevier miRNAs Elsevier WES Elsevier FGLDS2 Elsevier FGLDS1 Elsevier OFC Elsevier aCGH Elsevier Cq Elsevier LINC00379 Elsevier CNVs Elsevier kb Elsevier cDNA Elsevier qPCR Elsevier PPIAP23 Elsevier BRK1P2 Elsevier GPC5 Elsevier RNU6-75P Elsevier ACTB Elsevier PAP-A2 Elsevier MiR-17~92 Cluster Elsevier LINC01049 Elsevier WISC-III Elsevier Mb Elsevier FISH Elsevier FC Elsevier LINC00380 Elsevier MIR17HG Elsevier Preikšaitienė, Eglė oth Maldžienė, Živilė oth Mikštienė, Violeta oth Rančelis, Tautvydas oth Ambrozaitytė, Laima oth Gueneau, Lucie oth Reymond, Alexandre oth Kučinskas, Vaidutis oth Enthalten in Elsevier Lee, Jae-Ho ELSEVIER 26957 A study of dermoscopic features in relation to vitiligo activity 2021 an international journal on genes, genomes and evolution Amsterdam (DE-627)ELV006417590 volume:753 year:2020 day:30 month:08 pages:0 https://doi.org/10.1016/j.gene.2020.144816 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.93 Dermatologie VZ AR 753 2020 30 0830 0 |
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10.1016/j.gene.2020.144816 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001056.pica (DE-627)ELV050684019 (ELSEVIER)S0378-1119(20)30485-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.93 bkl Siavrienė, Evelina verfasserin aut A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 2020 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. LINC00410 Elsevier miRNAs Elsevier WES Elsevier FGLDS2 Elsevier FGLDS1 Elsevier OFC Elsevier aCGH Elsevier Cq Elsevier LINC00379 Elsevier CNVs Elsevier kb Elsevier cDNA Elsevier qPCR Elsevier PPIAP23 Elsevier BRK1P2 Elsevier GPC5 Elsevier RNU6-75P Elsevier ACTB Elsevier PAP-A2 Elsevier MiR-17~92 Cluster Elsevier LINC01049 Elsevier WISC-III Elsevier Mb Elsevier FISH Elsevier FC Elsevier LINC00380 Elsevier MIR17HG Elsevier Preikšaitienė, Eglė oth Maldžienė, Živilė oth Mikštienė, Violeta oth Rančelis, Tautvydas oth Ambrozaitytė, Laima oth Gueneau, Lucie oth Reymond, Alexandre oth Kučinskas, Vaidutis oth Enthalten in Elsevier Lee, Jae-Ho ELSEVIER 26957 A study of dermoscopic features in relation to vitiligo activity 2021 an international journal on genes, genomes and evolution Amsterdam (DE-627)ELV006417590 volume:753 year:2020 day:30 month:08 pages:0 https://doi.org/10.1016/j.gene.2020.144816 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.93 Dermatologie VZ AR 753 2020 30 0830 0 |
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10.1016/j.gene.2020.144816 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001056.pica (DE-627)ELV050684019 (ELSEVIER)S0378-1119(20)30485-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.93 bkl Siavrienė, Evelina verfasserin aut A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 2020 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. LINC00410 Elsevier miRNAs Elsevier WES Elsevier FGLDS2 Elsevier FGLDS1 Elsevier OFC Elsevier aCGH Elsevier Cq Elsevier LINC00379 Elsevier CNVs Elsevier kb Elsevier cDNA Elsevier qPCR Elsevier PPIAP23 Elsevier BRK1P2 Elsevier GPC5 Elsevier RNU6-75P Elsevier ACTB Elsevier PAP-A2 Elsevier MiR-17~92 Cluster Elsevier LINC01049 Elsevier WISC-III Elsevier Mb Elsevier FISH Elsevier FC Elsevier LINC00380 Elsevier MIR17HG Elsevier Preikšaitienė, Eglė oth Maldžienė, Živilė oth Mikštienė, Violeta oth Rančelis, Tautvydas oth Ambrozaitytė, Laima oth Gueneau, Lucie oth Reymond, Alexandre oth Kučinskas, Vaidutis oth Enthalten in Elsevier Lee, Jae-Ho ELSEVIER 26957 A study of dermoscopic features in relation to vitiligo activity 2021 an international journal on genes, genomes and evolution Amsterdam (DE-627)ELV006417590 volume:753 year:2020 day:30 month:08 pages:0 https://doi.org/10.1016/j.gene.2020.144816 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.93 Dermatologie VZ AR 753 2020 30 0830 0 |
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10.1016/j.gene.2020.144816 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001056.pica (DE-627)ELV050684019 (ELSEVIER)S0378-1119(20)30485-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.93 bkl Siavrienė, Evelina verfasserin aut A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 2020 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. LINC00410 Elsevier miRNAs Elsevier WES Elsevier FGLDS2 Elsevier FGLDS1 Elsevier OFC Elsevier aCGH Elsevier Cq Elsevier LINC00379 Elsevier CNVs Elsevier kb Elsevier cDNA Elsevier qPCR Elsevier PPIAP23 Elsevier BRK1P2 Elsevier GPC5 Elsevier RNU6-75P Elsevier ACTB Elsevier PAP-A2 Elsevier MiR-17~92 Cluster Elsevier LINC01049 Elsevier WISC-III Elsevier Mb Elsevier FISH Elsevier FC Elsevier LINC00380 Elsevier MIR17HG Elsevier Preikšaitienė, Eglė oth Maldžienė, Živilė oth Mikštienė, Violeta oth Rančelis, Tautvydas oth Ambrozaitytė, Laima oth Gueneau, Lucie oth Reymond, Alexandre oth Kučinskas, Vaidutis oth Enthalten in Elsevier Lee, Jae-Ho ELSEVIER 26957 A study of dermoscopic features in relation to vitiligo activity 2021 an international journal on genes, genomes and evolution Amsterdam (DE-627)ELV006417590 volume:753 year:2020 day:30 month:08 pages:0 https://doi.org/10.1016/j.gene.2020.144816 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.93 Dermatologie VZ AR 753 2020 30 0830 0 |
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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 |
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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 |
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a de novo 13q31.3 microduplication encompassing the mir-17 ~ 92 cluster results in features mirroring those associated with feingold syndrome 2 |
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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 |
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• The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. |
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• The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. |
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• The rearrangement in the proband described here is limited to MIR17HG. • Normal expression level of GPC5 excludes the contribution to a clinical phenotype. • Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. |
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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2 |
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Preikšaitienė, Eglė Maldžienė, Živilė Mikštienė, Violeta Rančelis, Tautvydas Ambrozaitytė, Laima Gueneau, Lucie Reymond, Alexandre Kučinskas, Vaidutis |
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