Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.
Santoro C et al.
Children (basel, Switzerland), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Kırkgöz T et al.
Archives of Endocrinology and Metabolism, 2023
A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?
Giannakopoulos A et al.
European Journal of Human Genetics : Ejhg, 2022
Identification of new candidate genes for spina bifida through exome sequencing.
Azzarà A et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021
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
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.
Hemwong N et al.
Journal of Advanced Research, 2020
Gain-of-Function Mutations: An Emerging Advantage for Cancer Biology.
Li Y et al.
Trends in Biochemical Sciences, 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
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
LHX4 Gene Alterations: Patient Report and Review of the Literature.
Gucev Z et al.
Pediatric Endocrinology Reviews : Per, 2016
Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Human gene-centered transcription factor networks for enhancers and disease variants.
Fuxman Bass JI et al.
Cell, 2015
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
Rochette C et al.
Plos One, 2015
Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2013
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
Role of transcription factors in midline central nervous system and pituitary defects.
Kelberman D et al.
Endocrine Development, 2009
Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes.
Castinetti F et al.
Expert Review of Endocrinology & Metabolism, 2008
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Pfaeffle RW et al.
The Journal of Clinical Endocrinology and Metabolism, 2008