The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …

A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …

The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …

Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major
categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating …

The use of zebrafish larvae in basic and applied research has grown exponentially during
the last 20 years. The reasons for this success lay in its specific experimental advantages …

Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …

Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …