Associated Papers
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Development of the Pituitary Gland.
Alatzoglou KS et al.
Comprehensive Physiology, 2020
Identification of HESX1 mutations in Kallmann syndrome.
Newbern K et al.
Fertility and Sterility, 2013
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Alatzoglou KS et al.
Indian Journal of Pediatrics, 2012
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.
Durmaz B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Alatzoglou KS et al.
Nature Reviews. Endocrinology, 2010
Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.
Mehta A et al.
Clinical Endocrinology, 2009
Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies.
Gat-Yablonski G et al.
Hormone Research, 2009
Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.
Corneli G et al.
Journal of Endocrinological Investigation, 2008
DNMT1 interacts with the developmental transcriptional repressor HESX1.
Sajedi E et al.
Biochimica Et Biophysica Acta, 2008
Septo-optic dysplasia - novel insights into the aetiology.
Kelberman D et al.
Hormone Research, 2008
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Kelberman D et al.
Annals of Medicine, 2006
Pituitary hormone deficiencies due to transcription factor gene alterations.
Reynaud R et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2004
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.
Carvalho LR et al.
The Journal of Clinical Investigation, 2003
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
Tajima T et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.
Brickman JM et al.
Development (cambridge, England), 2001
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
Thomas PQ et al.
Human Molecular Genetics, 2001
Heritable disorders of pituitary development.
Parks JS et al.
The Journal of Clinical Endocrinology and Metabolism, 1999