Výsledky vyhledávání - "Perone, Lucia"

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Additional file 8: Figure S8. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Autor: Boonen, Susanne, Freschi, Andrea, Christensen, Rikke, Valente, Federica, Lildballe, Dorte, Perone, Lucia, Palumbo, Orazio, Carella, Massimo, Uldbjerg, Niels, Sparago, Angela, Riccio, Andrea, Cerrato, Flavia

FISH analysis on metaphase nuclei (top panel) of cultured cells derived from peripheral blood leukocytes of the proband of family 2 by using BAC probes for 11p15.5-15.4 (RP11-11A9, 3,236,552-3,356,012, green) and 11q22.3 (RP11-179B7, 104,298,339-104,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ec410213cd8b717021968e088aa06566

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Additional file 2: Figure S2. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Single nucleotide polymorphism analysis of genomic DNA from relatives of family 1. I-1 = maternal grandfather, II-2 = mother, III-1 = first brother of the proband, and III-2 = second brother of the proband. Note that the duplication is present in II-

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Additional file 7: Figure S7. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Note that the haplotype associated with the duplication segregates from I-1 to II-2 and III-1 and that only the D11S4088 marker shows allelic imbalances in II-2 and III-1. (PDF 141Â kb)

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Additional file 4: Figure S4. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

FISH analysis on metaphase nuclei (top panel) of cultured cells derived from the umbilical cord of the proband of family 1 by using BAC probes for 11p15.5-15.4 (RP11-81K4, 2798699-2970438, green) and 11q22.3 (RP11-876C12, 103,804,669-103,982,517, red

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Additional file 1: Figure S1. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Comparative genomic hybridization analysis performed on DNA of the proband from family 1. The extension, the genomic localization (GRC h37/hg19) and the genes included in the duplication are shown. (PDF 54Â kb)

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Additional file 3: Figure S3. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Segregation of the haplotype associated with the duplication in family 1. Note that the haplotype associated with the duplication segregates from I-1 to II-2, III-2, and III-3 and that only the D11S4088 marker shows allelic imbalances in II-2, III-2,

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Additional file 6: Figure S6. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

DNA methylation (top) and copy number (CN, bottom) analyses at 11p15 region in family 2, determined by MS-MLPA. The histograms represent the normalized DNA methylation of ICR1 and ICR2 and CN of the genomic region spanning from the NSD1 to KCNQ1 gene

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