Caroline Kneppo

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AIMS To study the frequency of mutations in the Pax8 gene in a cohort of patients with congenital hypothyroidism (CH) in South West Germany. METHODS A cohort of 95 patients with CH (60 females, 35 males), identified in our newborn screening program, was analyzed for mutations in Pax8 by single-stranded conformational polymorphism (SSCP) and DNA(More)
The study objective is to evaluate the results of our surgical technique for children with congenital adrenal hyperplasia and ambiguous genitalia at the University Hospital of Heidelberg, Department of Paediatric Surgery. The records of 19 patients with congenital adrenal hyperplasia treated between 1972 and 2004 were reviewed with respect to age at(More)
BACKGROUND Mosaicism with cytogenetically visible Y chromosome is found in 5-6% of Turner Syndrome (TS) patients. Additionally, occult Y-chromosome derived material is increasingly found in patients with monosomy X when using more sensitive molecular techniques. These TS patients are at risk of developing gonadoblastomas when the Y genes presumed to be(More)
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