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Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Three genes, TTF1, TTF2, and PAX8, involved in thyroid gland development and migration have been identified. Yet systematic screening for defects in these genes in thyroid dysgenesis gave essentiallyExpand
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Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation.
Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondaryExpand
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Reduction of mortality rate in premature infants by substitution of thyroid hormones
Our previous examinations had shown that 9 of 13 premature infants with severe respiratory distress had hypothyroid T4-values. On the basis of these results a prospective study was initiated. EveryExpand
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New point mutation (R243W) in the hormone binding domain of the c‐erbA β1 gene in a family with generalized resistance to thyroid hormone
Two years after the first mutation on exon 7 in the carboxy-terminal part of the hinge domain (D) was reported (Behr and Loos 1992), we have identified the second mutation on exon 7 in patients withExpand
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[Treatment of marked gynecomastia in puberty with tamoxifen].
Based on the good results of another author 10 boys with marked pubertal gynecomastia were treated with the antioestrogen Tamoxifen (Nolvadex) at a dose of 20-40 mg/d orally for 2-12 months. In mostExpand
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Transient hypothyroidism associated with prematurity, sepsis, and respiratory distress
Serial TSH and T4 determinations were performed in sixty neonates admitted to our hospital for neonatal intensive care within a period of three months. Seven patients (12%) showed transientExpand
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Phenotypic variability in patients with generalised resistance to thyroid hormone.
Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have beenExpand
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Serial measurements of transient evoked otoacoustic emissions (TEOAEs) in healthy newborns and in newborns with perinatal infection.
Detection of hearing impairment in early childhood is difficult. We serially recorded transient evoked otoacoustic emissions (TEOAEs) to search for signs of ototoxicity in term, healthy newborns andExpand
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Partial monosomy 10p syndrome.
A newborn infant with monosomy 10p13 is reported. The clinical signs and symptoms of the present case are compared with those of previously described cases. Although there is no pathognomonicExpand
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