Kombinierter Hypophysenhormon-Mangel

Brickman JM et al. (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

Rosenfield RL et al. (1967) Idiopathic anterior hypopituitarism in one of monozygous twins.

None (1969) Congenital absence of hypoplasia of the endocrine glands.

Steiner MM et al. (1965) Absence of pituitary gland, hypothyroidism, hypoadrenalism and hypogonadism in a 17-year-old dwarf.

Voss JW et al. (1992) Anterior pituitary development: short tales from dwarf mice.

Pfaeffle RW et al. (2008) Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

Tajima T et al. (2007) A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.

Machinis K et al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

McNay DE et al. (2007) HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

Sobrier ML et al. (2006) Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

Carvalho LR et al. (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

Tajima T et al. (2003) Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

Pinto G et al. (1997) Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis.

Thomas PQ et al. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

Dattani MT et al. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

Wales JK et al. (1996) Evidence for possible Mendelian inheritance of septo-optic dysplasia.

Reynaud R et al. (2004) A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

Böttner A et al. (2004) PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.

Lee JK et al. (2004) Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.

Vallette-Kasic S et al. (2001) PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

Riepe FG et al. (2001) Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

Agarwal G et al. (2000) Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

Pernasetti F et al. (2000) Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

Blethen SL et al. (1985) Hypopituitarism and septooptic "dysplasia" in first cousins.

Webb EA et al. (2010) Septo-optic dysplasia.

Harrison IM et al. (2004) Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

Stevens CA et al. (2004) Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.

Birkebaek NH et al. (2003) Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.

None (1962) Median craioencephalic dysraphias and olfactogenital dysplasia.

Brodsky MC et al. (1997) Sudden death in septo-optic dysplasia. Report of 5 cases.

Stewart C et al. (1983) Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia.

Brook CG et al. (1972) Septo-optic dysplasia.

Harris RJ et al. (1972) Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome).

Hoyt WF et al. (1970) Septo-optic dysplasia and pituitary dwarfism.

Rogol AD et al. (1976) Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies.

Benner JD et al. (1990) Septo-optic dysplasia in two siblings.

Patel H et al. (1975) Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.

Purdy F et al. (1979) Maternal factors in septo-optic dysplasia.

Rush JA et al. (1978) Septo-optic dysplasia (de Morsier syndrome).

Ferrier PE et al. (1969) Familial pituitary dwarfism associated with an abnormal sella turcica.

Voutetakis A et al. (2004) Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.

None (1964) STUDIES IN ISOLATES.

KIRCHHOFF HW et al. (1954) [Clinical, hereditary and constitutional studies of primordial dwarfs].

None (1953) [The role of hereditary factors in growth disorders].

Sadeghi-Nejad A et al. (1974) A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period.

Okamoto N et al. (1994) Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.

Sloop KW et al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.

Schuelke M et al. (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

Miyata I et al. (2006) Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

Turton JP et al. (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

Hashimoto Y et al. (2003) A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.

Hendriks-Stegeman BI et al. (2001) Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

Vallette-Kasic S et al. (2001) Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.

Pernasetti F et al. (1998) Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.

Aarskog D et al. (1997) Pituitary dwarfism in the R271W Pit-1 gene mutation.

Pellegrini-Bouiller I et al. (1996) A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.

Rosenbloom AL et al. (1999) Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.

Irie Y et al. (1995) A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.

de Zegher F et al. (1995) The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency.

McKusick VA et al. (1967) General Tom Thumb and other midgets.

McArthur RG et al. (1985) The natural history of familial hypopituitarism.

Wit JM et al. (1989) Total deficiency of growth hormone and prolactin, and partial deficiency of thyroid stimulating hormone in two Dutch families: a new variant of hereditary pituitary deficiency.

Pfäffle RW et al. (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

Radovick S et al. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.

Ohta K et al. (1992) Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

Tatsumi K et al. (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.

None (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

Way JC et al. (1988) mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans.

Mendonca BB et al. (1999) Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

Flück C et al. (1998) Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).

Cogan JD et al. (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

Fofanova O et al. (1998) Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.

Wu W et al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency.

Rajab A et al. (2008) Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

Pfaeffle RW et al. (2007) Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

Bhangoo AP et al. (2006) Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.

Lee SK et al. (2003) Synchronization of neurogenesis and motor neuron specification by direct coupling of bHLH and homeodomain transcription factors.

Thaler JP et al. (2002) LIM factor Lhx3 contributes to the specification of motor neuron and interneuron identity through cell-type-specific protein-protein interactions.

Sharma K et al. (2000) Genetic and epigenetic mechanisms contribute to motor neuron pathfinding.

Netchine I et al. (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

Sloop KW et al. (2000) Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9.

Sloop KW et al. (1999) Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties.

Sharma K et al. (1998) LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.

Sheng HZ et al. (1996) Specification of pituitary cell lineages by the LIM homeobox gene Lhx3.

Mbikay M et al. (1995) Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2.

Zhadanov AB et al. (1995) Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3.

Zhadanov AB et al. (1995) Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues.

Tsuchida T et al. (1994) Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.

Freyd G et al. (1990) Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.

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