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
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N et al.
Clinical Endocrinology, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Development of the Pituitary Gland.
Alatzoglou KS et al.
Comprehensive Physiology, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
McCabe MJ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 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
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 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
Hypothalamic and pituitary development: novel insights into the aetiology.
Kelberman D et al.
European Journal of Endocrinology, 2007
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?
Mitchell LA et al.
Ajnr. American Journal of Neuroradiology, 2002
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