Genetic mutations contributing to non-obstructive azoospermia

Case report: A non-obstructive azoospermia patient with heat shock factor-2 mutation

(2020) Haiyue Zhao et al.   MEDICINE

De novo mutations in idiopathic male infertility ‐ a pilot study

(2020) A. Hodžić et al.   Andrology

First Infertile Case with CSTF2TGene Mutation

(2020) Ozlem Gorukmez et al.   Molecular Syndromology

Where are we going with gene screening for male infertility?

(2019) Nannan Thirumavalavan et al.   FERTILITY AND STERILITY

Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

(2019) A Riera-Escamilla et al.   HUMAN REPRODUCTION

Chromosomal and Y‐chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions

(2019) Ummet Abur et al.   ANDROLOGIA

Sperm recovery and ICSI outcomes in men with non-obstructive azoospermia: a systematic review and meta-analysis

(2019) Giovanni Corona et al.   HUMAN REPRODUCTION UPDATE

Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice

(2018) Yong Zhang et al.   Cytoskeleton

Evaluation of the azoospermic male: a committee opinion

(2018) Kathleen Hwang et al.   FERTILITY AND STERILITY

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family

(2018) M Ben Khelifa et al.   HUMAN REPRODUCTION

Androgen insensitivity syndrome: a review

(2018) Rafael Loch Batista et al.   Archives of Endocrinology Metabolism

Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: a National Cohort Study

(2018) Schoemaker Minouk J et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism

(2017) Maria I. Stamou et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

A novel functional variant in Wilms’ Tumor 1 (WT1 ) is associated with idiopathic non-obstructive azoospermia

(2017) Jin Xu et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility

(2016) Richard W. Linck et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia

(2015) Carolina J. Jorgez et al.   FERTILITY AND STERILITY

Diagnostic evaluation of the infertile female: a committee opinion

(2015)   FERTILITY AND STERILITY

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

(2015) Alexander N. Yatsenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation

(2013) K. M. Tordjman et al.   ANDROLOGIA

Medical management of non-obstructive azoospermia

(2013) R Kumar   Clinics

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

(2013) Albrecht Röpke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy

(2013) Miluse Vozdova et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013

(2013) C. Krausz et al.   Andrology

A dominant-negative mutation of HSF2 associated with idiopathic azoospermia

(2012) Lisha Mou et al.   HUMAN GENETICS

The androgen receptor gene mutations database: 2012 update

(2012) Bruce Gottlieb et al.   HUMAN MUTATION

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

(2012) Dingyang Li et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Genetic causes of spermatogenic failure

(2011) Annelien Massart et al.   ASIAN JOURNAL OF ANDROLOGY

Male infertility: Pathogenesis and clinical diagnosis

(2011) Csilla Krausz   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

The prevalence of chromosomal abnormalities in subgroups of infertile men

(2011) E. C. Dul et al.   HUMAN REPRODUCTION

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

(2011) Eeva-Maria Laitinen et al.   Orphanet Journal of Rare Diseases

Mutations in SOHLH1 gene associate with nonobstructive Azoospermia

(2010) Youngsok Choi et al.   HUMAN MUTATION

Klinefelter’s Syndrome: A Clinical and Therapeutical Update

(2010) G. Forti et al.   Sexual Development

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

(2009) K. Dieterich et al.   HUMAN MOLECULAR GENETICS

Mutations in the protamine locus: association with spermatogenic failure?

(2009) L. Imken et al.   MOLECULAR HUMAN REPRODUCTION

Kallmann syndrome

(2008) Catherine Dodé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Meiotic failure in male mice lacking an X-linked factor

(2008) F. Yang et al.   GENES & DEVELOPMENT

Cytogenetic determinants of male fertility

(2008) R.H. Martin   HUMAN REPRODUCTION UPDATE

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE