Genetische Erkrankungen der Hypophyse

Pivonello R et al. (1999) Effect of a short-term treatment with alendronate on bone density and bone markers in patients with central diabetes insipidus.

Nagai I et al. (1984) Two cases of hereditary diabetes insipidus, with an autopsy finding in one.

Toth EL et al. (1984) Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect.

Schmale H et al. (1984) The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated.

Majzoub JA et al. (1984) Vasopressin gene is expressed at low levels in the hypothalamus of the Brattleboro rat.

Blackett PR et al. () Familial central diabetes insipidus: vasopressin and nicotine stimulated neurophysin deficiency with subnormal oxytocin and estrogen stimulated neurophysin.

Pivonello R et al. (1998) Impairment of bone status in patients with central diabetes insipidus.

Willcutts MD et al. (1999) Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.

Leger J et al. (1999) Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus.

None (1967) Hereditary hypothalamic diabetes insipidus in rats (Brattleboro strain). A useful experimental model.

Pivonello R et al. (2003) Central diabetes insipidus and autoimmunity: relationship between the occurrence of antibodies to arginine vasopressin-secreting cells and clinical, immunological, and radiological features in a large cohort of patients with central diabetes insipidus of known and unknown etiology.

PENDER CB et al. (1953) Dominant inheritance of diabetes insipidus; a family study.

BRAVERMAN LE et al. (1965) HEREDITARY IDIOPATHIC DIABETES INSIPIDUS. A CASE REPORT WITH AUTOPSY FINDINGS.

None (1959) Familial diabetes insipidus.

None (2003) Dominant-negative diabetes insipidus and other endocrinopathies.

Russell TA et al. (2003) A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.

Christensen JH et al. (2004) Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

Wahlstrom JT et al. (2004) A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus.

Funder JW et al. (1993) Isolated ACTH deficiency: enzyme defect or chimaeric enzyme?

Lamolet B et al. (2001) A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.

Vallette-Kasic S et al. (2005) Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

Couture C et al. (2012) Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

Lücking T et al. (1975) [Selective ACTH deficiency in two siblings (author's transl)].

Aynsley-Green A et al. (1978) Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy.

Hung W et al. (1968) Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia.

Ichiba Y et al. (1983) Isolated corticotropin deficiency.

Nussey SS et al. (1993) Isolated congenital ACTH deficiency: a cleavage enzyme defect?

Malpuech G et al. (1988) Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

Kyllo JH et al. (1996) Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms.

ODELL WD et al. (1960) Hypoadrenotropism: the isolated deficiency of adrenotropic hormone.

Jirikowski GF et al. (1992) Reversal of diabetes insipidus in Brattleboro rats: intrahypothalamic injection of vasopressin mRNA.

Laing RB et al. (1991) Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.

Repaske DR et al. (1990) Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus.

Pedersen EB et al. (1985) Familial cranial diabetes insipidus: a report of five families. Genetic, diagnostic and therapeutic aspects.

Sokol HW et al. (1965) Morphology of the neurosecretory system in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain).

Valtin H et al. (1965) Neurohypophysial principles in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain).