Testing for genetic contributions to infertility: potential clinical impact

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

Spermatogenic failure and the Y chromosome

(2017) C. Krausz et al.   HUMAN GENETICS

Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis

(2017) Giovanni Corona et al.   HUMAN REPRODUCTION UPDATE

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

Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population

(2017) B. Yang et al.   Andrology

Essential role for SUN5 in anchoring sperm head to the tail

(2017) Yongliang Shang et al.   eLife

Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders

(2017) A. E. Calogero et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Novel concepts in the aetiology of male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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

HomozygousDNAH1frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese

(2016) X. Wang et al.   CLINICAL GENETICS

Genetic abnormalities leading to qualitative defects of sperm morphology or function

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

Single gene defects leading to sperm quantitative anomalies

(2016) M.J. Mitchell et al.   CLINICAL GENETICS

Primary Ciliary Dyskinesia

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

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism: Table 1

(2016) Andrew A Dwyer et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Patients with multiple morphological abnormalities of the sperm flagella due toDNAH1mutations have a good prognosis following intracytoplasmic sperm injection

(2016) Clémentine Wambergue et al.   HUMAN REPRODUCTION

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations

(2016) Amir Amiri-Yekta et al.   HUMAN REPRODUCTION

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

(2016) Anu Bashamboo et al.   Sexual Development

Gonadotrophin replacement for induction of fertility in hypogonadal men

(2015) Andrew A. Dwyer et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

(2015) Ozlem Okutman et al.   HUMAN MOLECULAR GENETICS

Teratozoospermia: spotlight on the main genetic actors in the human

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

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

(2015) Esther Maor-Sagie et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Preliminary Results of a Prospective Study of Testicular Sperm Extraction in Young Versus Adult Patients With Nonmosaic 47,XXY Klinefelter Syndrome

(2015) Ingrid Plotton et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

(2015) Yardena Tenenbaum-Rakover et al.   JOURNAL OF MEDICAL GENETICS

Increased Risk of Cancer in Infertile Men: Analysis of U.S. Claims Data

(2015) Michael L. Eisenberg et al.   JOURNAL OF UROLOGY

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

(2015) Ulrich Boehm et al.   Nature Reviews Endocrinology

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

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

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

The CatSper calcium channel in human sperm: relation with motility and involvement in progesterone-induced acrosome reaction

(2014) Lara Tamburrino et al.   HUMAN REPRODUCTION

Ultrasound of the male genital tract in relation to male reproductive health

(2014) F. Lotti et al.   HUMAN REPRODUCTION UPDATE

Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility

(2014) D Lo Giacco et al.   JOURNAL OF MEDICAL GENETICS

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

The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens

(2014) Qiang Du et al.   Biomed Research International

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

Reproductive outcomes in patients with male infertility because of Klinefelterʼs syndrome, Kartagenerʼs syndrome, round-head sperm, dysplasia fibrous sheath, and ‘stump’ tail sperm

(2013) S.A. Dávila Garza et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

(2013) L Aksglaede et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

(2013) Deborah Lo Giacco et al.   EUROPEAN 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

The clinical significance of calcium-signalling pathways mediating human sperm hyperactivation

(2013) Wardah Alasmari et al.   HUMAN REPRODUCTION

Small RNAs in spermatogenesis

(2013) Ram Prakash Yadav et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Independent specialization of the human and mouse X chromosomes for the male germ line

(2013) Jacob L Mueller et al.   NATURE GENETICS

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

(2013) Nicole Hoppman et al.   Molecular Cytogenetics

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

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

(2013) C. Krausz et al.   Andrology

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

(2012) Andreas Jungwirth et al.   EUROPEAN UROLOGY

The androgen receptor gene mutations database: 2012 update

(2012) Bruce Gottlieb et al.   HUMAN MUTATION

Array comparative genomic hybridization in male infertility

(2012) K. Stouffs et al.   HUMAN REPRODUCTION

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

High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

(2012) Csilla Krausz et al.   PLoS One

Male infertility: Pathogenesis and clinical diagnosis

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

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

XX males SRY negative: a confirmed cause of infertility

(2011) A. Vetro et al.   JOURNAL OF MEDICAL GENETICS

Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis

(2011)   OBSTETRICS AND GYNECOLOGY

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

(2011) Frank Tüttelmann et al.   PLoS One

The making of abnormal spermatozoa: cellular and molecular mechanisms underlying pathological spermiogenesis

(2010) Hector E. Chemes et al.   CELL AND TISSUE RESEARCH

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

(2010) Emilia Mateu et al.   FERTILITY AND STERILITY

Good Semen Quality and Life Expectancy: A Cohort Study of 43,277 Men

(2009) T. K. Jensen et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

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

Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

(2009) Julian Lange et al.   CELL

Are Infertile Men Less Healthy than Fertile Men? Results of a Prospective Case-Control Survey

(2009) Andrea Salonia et al.   EUROPEAN UROLOGY

Intracytoplasmic sperm injection and pregnancy with decapitated sperm

(2009) Laura Gambera et al.   FERTILITY AND STERILITY

The Will-o'-the-Wisp of Genetics — Hunting for the Azoospermia Factor Gene

(2009) Chris Tyler-Smith et al.   NEW ENGLAND JOURNAL OF MEDICINE

The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population

(2008) C. Lu et al.   HUMAN MOLECULAR GENETICS

ZIP4H (TEX11) Deficiency in the Mouse Impairs Meiotic Double Strand Break Repair and the Regulation of Crossing Over

(2008) Carrie A. Adelman et al.   PLoS Genetics