Genetic evaluation of patients with non-syndromic male infertility

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

(2017) J. C. Harper et al.   EUROPEAN 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

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

(2017) Ozlem Okutman et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

(2017) Maram Arafat et al.   JOURNAL OF MEDICAL GENETICS

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

(2016) Olivier Patat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

(2016) Fuxi Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic abnormalities leading to qualitative defects of sperm morphology or function

(2016) P.F. Ray et al.   CLINICAL GENETICS

A new mutation identified in SPATA16 in two globozoospermic patients

(2016) Elias ElInati et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse

(2015) F. Yang et al.   EMBO Molecular Medicine

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

(2015) Ranjith Ramasamy et al.   FERTILITY AND STERILITY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

(2015) Jessica Escoffier et al.   HUMAN MOLECULAR GENETICS

Exome sequencing reveals a nonsense mutation inTEX15causing spermatogenic failure in a Turkish family

(2015) Ozlem Okutman et al.   HUMAN MOLECULAR GENETICS

Identification of a newDPY19L2mutation and a better definition ofDPY19L2deletion breakpoints leading to globozoospermia

(2015) Houda Ghédir et al.   MOLECULAR HUMAN REPRODUCTION

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

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

A Novel Mutation of DAX-1 Associated with Secretory Azoospermia

(2015) Lisha Mou et al.   PLoS One

A unique view on male infertility around the globe

(2015) Ashok Agarwal et al.   Reproductive Biology and Endocrinology

Klinefelter syndrome and TESE-ICSI

(2014) Ingrid Plotton et al.   ANNALES D ENDOCRINOLOGIE

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

(2014) J. Harper et al.   HUMAN REPRODUCTION

Truncating mutations inTAF4BandZMYND15causing recessive azoospermia

(2014) Özgecan Ayhan et al.   JOURNAL OF MEDICAL GENETICS

X Chromosome-Linked CNVs in Male Infertility: Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance

(2014) Chiara Chianese et al.   PLoS One

A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility

(2014) N. Takasaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

(2014) Evangelia Karampetsou et al.   Journal of Clinical Medicine

Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

(2013) Thassadite Dirami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status

(2013) P. Kuentz et al.   HUMAN REPRODUCTION

Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome

(2013) E. Greco et al.   HUMAN REPRODUCTION

SEPT12-Microtubule Complexes Are Required for Sperm Head and Tail Formation

(2013) Pao-Lin Kuo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

(2013) Christel Thauvin-Robinet et al.   JOURNAL OF MEDICAL GENETICS

Mutations ofNANOS1, a human homologue of theDrosophilamorphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia

(2013) Kamila Kusz-Zamelczyk et al.   JOURNAL OF MEDICAL GENETICS

Lifestyle factors and reproductive health: taking control of your fertility

(2013) Rakesh Sharma et al.   Reproductive Biology and Endocrinology

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

(2013) C. Krausz et al.   Andrology

AZFb microdeletions and oligozoospermia—which mechanisms?

(2012) Ana Rita Soares et al.   FERTILITY AND STERILITY

A dominant-negative mutation of HSF2 associated with idiopathic azoospermia

(2012) Lisha Mou et al.   HUMAN GENETICS

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

(2012) Elias ElInati et al.   HUMAN MOLECULAR GENETICS

Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia

(2012) M. Ben Khelifa et al.   HUMAN REPRODUCTION

DPY19L2 Deletion as a Major Cause of Globozoospermia

(2011) Isabelle Koscinski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Male infertility: Pathogenesis and clinical diagnosis

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

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

CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis

(2011) Jianmin Yu et al.   HUMAN REPRODUCTION

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Mutations in SOHLH1 gene associate with nonobstructive Azoospermia

(2010) Youngsok Choi et al.   HUMAN MUTATION

Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man

(2010) G. Longepied et al.   HUMAN REPRODUCTION

De NovoPericentric Inversion of Chromosome 9 in Congenital Anomaly

(2010) Seon-Yong Jeong et al.   YONSEI MEDICAL JOURNAL

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

(2009) Matthew R. Avenarius et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminology, 2009

(2009) F. Zegers-Hochschild et al.   HUMAN REPRODUCTION

The Genetics of Male Infertility

(2009) Thomas Walsh et al.   SEMINARS IN REPRODUCTIVE MEDICINE