996 resultados para OPERATING POINT
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Audit report on the City of Center Point, Iowa for the year ended June 30, 2009
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The IDED Web site hosts the online Business License Information Center (BLIC) which provides 24/7 access and comprehensive information on compliance requirements for doing business in Iowa. BLIC also provides convenient, effective and timely information on license, permits, and registrations required by the state of Iowa for businesses and occupations. Users may access assistance by license type, keyword, or the business wizard. Many useful factsheets and guides are available at BLIC.
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Audit report on the City of Center Point, Iowa for the year ended June 30, 2010
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
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Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.