Associated Papers
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review.
Patil VA et al.
Neuroendocrinology, 2022
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.
Brauner R et al.
Frontiers in Pediatrics, 2021
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL et al.
European Journal of Endocrinology, 2019
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency.
Chan YM
Molecular and Cellular Endocrinology, 2011
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