Global ETD Search

1	"De Novo" Duplication Xq23→Xq26 of Paternal Origin in a Girl With a Mildly Affected Phenotype Garcia-Heras, Jaime, Martin, Judith A., Day, Donald W., Scacheri, Peter, Witchel, Selma F. 27 June 1997 (has links) We report a de novo dup(X)(q23→q26) in a 3-year-old girl with growth retardation, developmental delay, and minor anomalies. X-inactivation in lymphocytes by BRDU labeling showed the abnormal X was late replicating. The androgen receptor assay (HAR) demonstrated a skewed methylation (88.8%) of the paternal allele and a 11.2% methylation of the maternal allele. These data, which suggest the duplication was paternally inherited, are the first parental-origin identification of a duplication Xq. The mild phenotype of the patient may be related to the size and region of the duplication, the low percentage of a dup(X) active detected by the HAR assay, or a combination of these mechanisms. . androgen receptor locus assay (HAR) duplication Xq paternal origin X-inactivation
2	Haplotypanalyse bei Familien mit einem Kind mit CHARGE- Syndrom und Kandidatengenscreening CHD8 und FAM124B / Haplotype analysis in families with CHARGE syndrome affected child and screening of candidate genes CHD8 and FAM124B von Velsen, Nina 31 July 2018 (has links) No description available. 610 paternaler Ursprung CHARGE- Syndrom CHD7 CHD8 väterliches Alter FAM124B Gonadenmosaik CHD7 CHD8 FAM124B paternal origin paternal age germline mosaicism CHARGE syndrome GOK-MEDIZIN

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"De Novo" Duplication Xq23→Xq26 of Paternal Origin in a Girl With a Mildly Affected Phenotype

Haplotypanalyse bei Familien mit einem Kind mit CHARGE- Syndrom und Kandidatengenscreening CHD8 und FAM124B / Haplotype analysis in families with CHARGE syndrome affected child and screening of candidate genes CHD8 and FAM124B