Associated Papers
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
Human gene-centered transcription factor networks for enhancers and disease variants.
Fuxman Bass JI et al.
Cell, 2015
Identification of HESX1 mutations in Kallmann syndrome.
Newbern K et al.
Fertility and Sterility, 2013
Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers.
Lachance J et al.
Cell, 2012
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
Vivenza D et al.
European Journal of Endocrinology, 2011
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
Mellado C et al.
American Journal of Medical Genetics. Part A, 2010
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Cruz JB et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
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
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.
Melo ME et al.
Clinical Endocrinology, 2007
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI
Human Genetics, 2005
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
Rainbow LA et al.
Clinical Endocrinology, 2005
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
Heritable disorders of pituitary development.
Parks JS et al.
The Journal of Clinical Endocrinology and Metabolism, 1999