Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine

F Tüttelmann, C Ruckert, A Röpke - Medizinische Genetik, 2018 - degruyter.com
Infertility is a common condition estimated to affect 10–15% of couples. The clinical causes
are attributed in equal parts to the male and female partners. Diagnosing male infertility …

Developmental and genetic disorders in spermatogenesis

T Diemer, C Desjardins - Human Reproduction Update, 1999 - academic.oup.com
The most common cause of male infertility is idiopathic. Fresh insights based on genetic and
molecular analysis of the human genome permit classification of formerly unexplained …

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes

TF Araujo, C Friedrich, CHP Grangeiro, LR Martelli… - …, 2020 - Wiley Online Library
Background The routine genetic analysis for diagnosing male infertility has not changed
over the last twenty years, and currently available tests can only determine the etiology of …

Gene polymorphisms/mutations relevant to abnormal spermatogenesis

F Nuti, C Krausz - Reproductive biomedicine online, 2008 - Elsevier
Despite the identification of an increasing number of candidate genes involved in
spermatogenesis, the armamentarium of diagnostic genetic tests in male infertility remains …

Genetic evaluation of patients with non-syndromic male infertility

O Okutman, MB Rhouma, M Benkhalifa, J Muller… - Journal of Assisted …, 2018 - Springer
Purpose This review provides an update on the genetics of male infertility with emphasis on
the current state of research, the genetic disorders that can lead to non-syndromic male …

Testing for genetic contributions to infertility: potential clinical impact

C Krausz, F Cioppi… - Expert review of molecular …, 2018 - Taylor & Francis
Introduction: Male infertility affects about 7% of the general male population, and it is a
multifactorial, polygenic pathological condition. Known genetic factors, accounting for about …

A search for molecular mechanisms underlying male idiopathic infertility

A Bracke, K Peeters, U Punjabi, D Hoogewijs… - Reproductive …, 2018 - Elsevier
Infertility affects approximately 15% of the couples wanting to conceive. In 30− 40% of the
cases the aetiology of male infertility remains unknown and is called idiopathic male …

Role of genetics and epigenetics in male infertility

S Gunes, SC Esteves - Andrologia, 2021 - Wiley Online Library
Male infertility is a complex condition with a strong genetic and epigenetic background. This
review discusses the importance of genetic and epigenetic factors in the pathophysiology of …

Genetic causes of male infertility

A Ferlin, B Arredi, C Foresta - Reproductive toxicology, 2006 - Elsevier
Genetic causes account for 10–15% of severe male infertility, including chromosomal
aberrations and single gene mutations. Natural selection prevents the transmission of …

Disease gene discovery in male infertility: past, present and future

MJ Xavier, A Salas-Huetos, MS Oud, KI Aston… - Human Genetics, 2021 - Springer
Identifying the genes causing male infertility is important to increase our biological
understanding as well as the diagnostic yield and clinical relevance of genetic testing in this …