Publications by authors named "Schepler A"

Purpose: The Lanthony Desaturated Panel D-15 has been used to measure fine color discrimination for congenital and acquired color vision defects. This study investigated the test-retest reliability of the test using an intertest interval of approximately 1 month.

Methods: One hundred twenty-six color vision normals (mean age = 34.

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Gonadoblastomas are seen almost exclusively in dysgenetic gonads of patients with a chromosomal mosaicism of 45,X and an additional Y-bearing cell line. This paper presents a case of a Turner mosaic patient with 45,X/46,X,+mar karyotype, who developed a unilateral microscopic gonadoblastoma. Cytogenetic and molecular analysis confirmed a Y-chromosomal origin of the marker chromosome, with a deletion of the distal Yq arm and the proposed region of a so far undefined gonadoblastoma locus (GBY) present.

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