Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-08-03
DOI
10.1038/s41436-020-0907-1
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope
- (2019) Yan Wang et al. Nature Communications
- A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest
- (2019) Moran Gershoni et al. HUMAN REPRODUCTION
- A systematic review and standardized clinical validity assessment of male infertility genes
- (2019) Manon S Oud et al. HUMAN REPRODUCTION
- 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
- A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks
- (2019) Sandrine Caburet et al. EBioMedicine
- A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
- (2019) Holly LaDuca et al. GENETICS IN MEDICINE
- Sequence analysis of 37 candidate genes for male infertility: Challenges in variant assessment and validating genes
- (2019) Thais Fenz Araujo et al. Andrology
- SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
- (2019) Samantha L.P. Schilit et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Meiotic arrest occurs most frequently at metaphase and is often incomplete in azoospermic men
- (2019) Andrea Enguita-Marruedo et al. FERTILITY AND STERILITY
- Genetic intersection of male infertility and cancer
- (2018) Liina Nagirnaja et al. FERTILITY AND STERILITY
- Point-of-care whole-exome sequencing of idiopathic male infertility
- (2018) Khalid A Fakhro et al. GENETICS IN MEDICINE
- From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
- (2018) Csilla Krausz et al. GENETICS IN MEDICINE
- Genetics of male infertility
- (2018) Csilla Krausz et al. Nature Reviews Urology
- Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles
- (2018) Ngoc Minh Phuong Nguyen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes
- (2017) Moran Gershoni et al. GENETICS IN MEDICINE
- Spermatogenesis associated 22 is required for DNA repair and synapsis of homologous chromosomes in mouse germ cells
- (2017) E. Hays et al. Andrology
- Novel concepts in the aetiology of male reproductive impairment
- (2017) Herman Tournaye et al. Lancet Diabetes & Endocrinology
- High-throughput discovery of novel developmental phenotypes
- (2016) Mary E. Dickinson et al. NATURE
- Increased Risk of Cancer in Infertile Men: Analysis of U.S. Claims Data
- (2015) Michael L. Eisenberg et al. JOURNAL OF UROLOGY
- X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
- (2015) Alexander N. Yatsenko et al. NEW ENGLAND JOURNAL OF MEDICINE
- Dynamic profiling of double-stranded RNA binding proteins
- (2015) Xinlei Wang et al. NUCLEIC ACIDS RESEARCH
- TP53, MSH4, and LATS1 Germline Mutations in a Family with Clustering of Nervous System Tumors
- (2014) Young-Ho Kim et al. AMERICAN JOURNAL OF PATHOLOGY
- DMRT1 mutations are rarely associated with male infertility
- (2014) Ann-Christin Tewes et al. FERTILITY AND STERILITY
- Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency
- (2014) Liat de Vries et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Regulation of spermatogenesis by small non-coding RNAs: Role of the germ granule
- (2014) Sara de Mateo et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- 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
- MEIOB Targets Single-Strand DNA and Is Necessary for Meiotic Recombination
- (2013) Benoit Souquet et al. PLoS Genetics
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013
- (2013) C. Krausz et al. Andrology
- Human Male Meiotic Sex Chromosome Inactivation
- (2012) Marieke de Vries et al. PLoS One
- The cohesin subunit RAD21L functions in meiotic synapsis and exhibits sexual dimorphism in fertility
- (2011) Yurema Herrán et al. EMBO JOURNAL
- Evidence that Meiotic Sex Chromosome Inactivation Is Essential for Male Fertility
- (2010) Hélène Royo et al. CURRENT BIOLOGY
- Evaluating the Relationship between Spermatogenic Silencing of the X Chromosome and Evolution of the Y Chromosome in Chimpanzee and Human
- (2010) Eskeatnaf Mulugeta Achame et al. PLoS One
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now