Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

Preimplantation Genetic Testing for Monogenic Kidney Disease

(2020) Rozemarijn Snoek et al.   Clinical Journal of the American Society of Nephrology

Utilization of preimplantation genetic testing for monogenic disorders

(2020) Iris Lee et al.   FERTILITY AND STERILITY

Diagnosis and treatment of infertility in men: AUA/ASRM guideline part I

(2020) Peter N. Schlegel et al.   FERTILITY AND STERILITY

Definition, diagnostic and therapeutic options in recurrent implantation failure: an international survey of clinicians and embryologists

(2020) D Cimadomo et al.   HUMAN REPRODUCTION

Where are we going with gene screening for male infertility?

(2019) Nannan Thirumavalavan et al.   FERTILITY AND STERILITY

Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

(2019) Azubel Ramírez-Velazco et al.   JOURNAL OF GENETICS

The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review and Meta-analysis of European and North American Studies

(2019) Taylor P. Kohn et al.   EUROPEAN UROLOGY

Nutrition Assessment and Intervention in a Pediatric Patient with Angelman Syndrome: A Case Presentation Highlighting Clinical Challenges and Evidence-Based Solutions

(2019) Kelly Fisher et al.   Lifestyle Genomics

Genetics of the human Y chromosome and its association with male infertility

(2018) Stacy Colaco et al.   Reproductive Biology and Endocrinology

Genetic evaluation of patients with non-syndromic male infertility

(2018) Ozlem Okutman et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

The International Glossary on Infertility and Fertility Care, 2017

(2017) Fernando Zegers-Hochschild et al.   FERTILITY AND STERILITY

Spermatogenic failure and the Y chromosome

(2017) C. Krausz et al.   HUMAN GENETICS

The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants

(2017) Yunmin Li et al.   HUMAN MOLECULAR GENETICS

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

(2017) Kirstine Belling et al.   HUMAN MOLECULAR GENETICS

Progress in understanding the molecular functions of DDX3Y (DBY) in male germ cell development and maintenance

(2017) Alexei A. Kotov et al.   BioScience Trends

Male Infertility Associated with a Supernumerary Marker Chromosome

(2017) Seung-Hun Song et al.   World Journal of Mens Health

Current medical management of endocrine-related male infertility

(2016) JoshuaD Ring et al.   ASIAN JOURNAL OF ANDROLOGY

Recent advances in the genetics of testicular failure

(2016) DoloresJ Lamb et al.   ASIAN JOURNAL OF ANDROLOGY

Primary Ciliary Dyskinesia

(2016) Michael R. Knowles et al.   CLINICS IN CHEST MEDICINE

Teratozoospermia: spotlight on the main genetic actors in the human

(2015) C. Coutton et al.   HUMAN REPRODUCTION UPDATE

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

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

Mouse Y-Encoded Transcription Factor Zfy2 Is Essential for Sperm Formation and Function in Assisted Fertilization

(2015) Yasuhiro Yamauchi et al.   PLoS Genetics

Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter's syndrome

(2015) J. Rohayem et al.   Andrology

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

(2014) Qiu-Yue Wu et al.   BMC Urology

Mouse Y-Linked Zfy1 and Zfy2 Are Expressed during the Male-Specific Interphase between Meiosis I and Meiosis II and Promote the 2nd Meiotic Division

(2014) Nadège Vernet et al.   PLoS Genetics

Relevance of genetic investigation in male infertility

(2014) P. Asero et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

(2013) Mariem Ben Khelifa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impact of Chromosomal Translocations on Male Infertility, Semen Quality, Testicular Volume and Reproductive Hormone Levels

(2013) Y Dong et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

(2013) Alexandra M. Lopes et al.   PLoS Genetics

Optimization of spermatogenesis-regulating hormones in patients with non-obstructive azoospermia and its impact on sperm retrieval: a multicentre study

(2012) Alayman Hussein et al.   BJU INTERNATIONAL

European Association of Urology Guidelines on Male Infertility: The 2012 Update

(2012) Andreas Jungwirth et al.   EUROPEAN UROLOGY

Aromatase inhibitors for male infertility

(2012) Peter N. Schlegel   FERTILITY AND STERILITY

A dominant-negative mutation of HSF2 associated with idiopathic azoospermia

(2012) Lisha Mou et al.   HUMAN GENETICS

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

(2011) Radu Harbuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010)

(2011) Sandra E. Kleiman et al.   FERTILITY AND STERILITY

Human chorionic gonadotrophin treatment prior to microdissection testicular sperm extraction in non-obstructive azoospermia

(2011) K. Shiraishi et al.   HUMAN REPRODUCTION

Chromosomal Variants in Klinefelter Syndrome

(2011) A. Frühmesser et al.   Sexual Development

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Who should be screened for chromosomal abnormalities before ICSI treatment?

(2010) E. C. Dul et al.   HUMAN REPRODUCTION

Outcome of twin babies free of Von Hippel–Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening

(2009) Albert Obradors et al.   FERTILITY AND STERILITY

Successful Fertility Treatment for Klinefelter's Syndrome

(2009) Ranjith Ramasamy et al.   JOURNAL OF UROLOGY

Cytogenetic determinants of male fertility

(2008) R.H. Martin   HUMAN REPRODUCTION UPDATE

Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis

(2008) Fang Yang et al.   JOURNAL OF CELL BIOLOGY