Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Zeidler C et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014
Molecular analysis of holoprosencephaly in South America.
Savastano CP et al.
Genetics and Molecular Biology, 2014
High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
Solomon BD et al.
Molecular Syndromology, 2012
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Pineda-Alvarez DE et al.
American Journal of Medical Genetics. Part A, 2011
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
McCabe MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.
Dwyer AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
Trarbach EB et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
Sykiotis GP et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.
Arauz RF et al.
Molecular Syndromology, 2010
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J et al.
The Journal of Clinical Investigation, 2008