Associated Papers
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Gavaz M et al.
Journal of Neurogenetics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism
Çiftci N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Alesi V et al.
International Journal of Molecular Sciences, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Gawlinski P et al.
Pediatric Neurology, 2016
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
De Rienzo F et al.
Clinical Endocrinology, 2015
Identification of HESX1 mutations in Kallmann syndrome.
Newbern K et al.
Fertility and Sterility, 2013
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
Vivenza D et al.
European Journal of 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 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
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
Genetic defects in the development and function of the anterior pituitary gland.
Cushman LJ et al.
Annals of Medicine, 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