A Novel Mutation of DAX-1 Associated with Secretory Azoospermia

Excess of Rare Variants in Genes that are Key Epigenetic Regulators of Spermatogenesis in the Patients with Non-Obstructive Azoospermia

(2015) Zesong Li et al.   Scientific Reports

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Identification of Ube2b as a Novel Target of Androgen Receptor in Mouse Sertoli Cells1

(2013) Lisha Mou et al.   BIOLOGY OF REPRODUCTION

A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic–pituitary–gonadal axis but deteriorating oligospermia during long-term follow-up

(2013) Marie-Laure Raffin-Sanson et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

CUA Guideline: The workup of azoospermic males

(2012) Keith Jarvi   CUAJ-Canadian Urological Association Journal

The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis

(2012) Donata Ponikwicka-Tyszko et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Hypogonadotropic hypogonadism in subjects with DAX1 mutations

(2011) Unmesh Jadhav et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE

Site-directed mutagenesis by combination of homologous recombination and DpnI digestion of the plasmid template in Escherichia coli

(2007) Jing Li et al.   ANALYTICAL BIOCHEMISTRY

Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility

(2007) D. Zuccarello et al.   CLINICAL ENDOCRINOLOGY