Globozoospermia: A Case Report and Systematic Review of Literature

Single-center thorough evaluation and targeted treatment of globozoospermic men

(2021) Stephanie Cheung et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome–acroplaxome complex

(2021) Pingping Chen et al.   HUMAN REPRODUCTION

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships

(2021) Brendan J Houston et al.   HUMAN REPRODUCTION UPDATE

The Burden of Hormonal Disorders: A Worldwide Overview With a Particular Look in Italy

(2021) Andrea Crafa et al.   Frontiers in Endocrinology

Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects

(2021) Yaqian Li et al.   HUMAN REPRODUCTION

GGNBP1 ensures proper spermiogenesis in response to stress in mice

(2020) Tingting Han et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report

(2020) You-zhu Li et al.   Molecular Cytogenetics

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

(2019) Houda Ghédir et al.   ANDROLOGIA

Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy

(2019) Lorena Rodrigo et al.   BIOLOGY OF REPRODUCTION

Proteomic Analysis of Dpy19l2‐Deficient Human Globozoospermia Reveals Multiple Molecular Defects

(2019) Yueshuai Guo et al.   Proteomics Clinical Applications

Globozoospermia syndrome: An update

(2019) Farzaneh Fesahat et al.   ANDROLOGIA

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

(2019) M S Oud et al.   HUMAN REPRODUCTION

Single‐nucleotide polymorphism c.474G>A in the SEPT12 gene is a predisposing factor in male infertility

(2019) Alemeh Rafaee et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

DNAH6 is a novel candidate gene associated with sperm head anomaly

(2018) L. Li et al.   ANDROLOGIA

OUP accepted manuscript

(2018)   HUMAN REPRODUCTION

Comprehensive genetic testing for female and male infertility using next-generation sequencing

(2018) Bonny Patel et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Obstetric and neonatal outcome following ICSI with assisted oocyte activation by calcium ionophore treatment

(2018) Ileana Mateizel et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion

(2018) Marziyeh Tavalaee et al.   REPRODUCTIVE BIOMEDICINE ONLINE

A successful healthy childbirth and an ongoing evolutive pregnancy in a case of partial globozoospermia by hyaluronic acid sperm selection

(2018) Pierandrea Canepa et al.   ANDROLOGIA

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients

(2018) Fatma Abdelhedi et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models

(2017) Yoshitaka Fujihara et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2 -deleted globozoospermic patients

(2017) Marine Paci et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Chromosomal Anomalies in Patients with Azoospermia and Oligoasthenoteratozoospermia

(2017) J. Vijayalakshmi et al.   INTERNATIONAL JOURNAL OF HUMAN GENETICS

A new mutation identified in SPATA16 in two globozoospermic patients

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

Expression profile ofPLCζ,PAWP,andTR-KITin association with fertilization potential, embryo development, and pregnancy outcomes in globozoospermic candidates for intra-cytoplasmic sperm injection and artificial oocyte activation

(2016) M. Tavalaee et al.   Andrology

Decreased Expression of KIFC1 in Human Testes with Globozoospermic Defects

(2016) Erlei Zhi et al.   Genes

Different outcomes after intracytoplasmic sperm injection without oocyte activation in two patients with different types of globozoospermia

(2015) Z.-Q. Zhang et al.   ANDROLOGIA

Intracytoplasmic Sperm Injection Fertilization Rate Does Not Depend on the Proportion of Round-headed Sperm, Small-acrosomal Sperm, or Morphologically Normal Sperm in Patients with Partial Globozoospermia

(2015) Song-Ying Zhang et al.   CHINESE MEDICAL JOURNAL

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

(2015) Houda Ghédir et al.   MOLECULAR HUMAN REPRODUCTION

Genome-wide 5-hydroxymethylcytosine modification pattern is a novel epigenetic feature of globozoospermia

(2015) Xiu-Xia Wang et al.   Oncotarget

Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation

(2015) L. Shamseer et al.   BMJ-British Medical Journal

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia

(2015) C. Chianese et al.   Andrology

Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation

(2015) L. Shamseer et al.   BMJ-British Medical Journal

Sperm-derived WW domain-binding protein, PAWP, elicits calcium oscillations and oocyte activation in humans and mice

(2014) Mahmoud Aarabi et al.   FASEB JOURNAL

First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16

(2014) Nilay Karaca et al.   FERTILITY AND STERILITY

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development

(2014) Sandra Yassine et al.   MOLECULAR HUMAN REPRODUCTION

Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation

(2014) Jessica Escoffier et al.   MOLECULAR HUMAN REPRODUCTION

Total globozoospermia associated with increased frequency of immature spermatozoa with chromatin defects and aneuploidy: a case report

(2013) M. Vozdova et al.   ANDROLOGIA

A Homozygous Deletion of the DPY19L2 Gene is a Cause of Globozoospermia in Men From the Republic of Macedonia

(2013) P Noveski et al.   Balkan Journal of Medical Genetics

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

(2013) P. Kuentz et al.   HUMAN REPRODUCTION

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations

(2013) F. Zhu et al.   MOLECULAR HUMAN REPRODUCTION

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

(2012) Elias ElInati et al.   HUMAN MOLECULAR GENETICS

Motile sperm organelle morphology evaluation-selected globozoospermic human sperm with an acrosomal bud exhibits novel patterns and higher levels of phospholipase C zeta

(2012) J. Kashir et al.   HUMAN REPRODUCTION

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

(2012) C. Coutton et al.   HUMAN REPRODUCTION

Sperm cephalic vacuoles: new arguments for their non acrosomal origin in two cases of total globozoospermia

(2012) N. Gatimel et al.   Andrology

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

DPY19L2 Deletion as a Major Cause of Globozoospermia

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

Intracytoplasmic sperm injection in partial globozoospermia

(2011) Anika H.D.M. Dam et al.   FERTILITY AND STERILITY

Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia

(2011) N. Sermondade et al.   HUMAN REPRODUCTION

Analysis of Sperm Aneuploidies and DNA Fragmentation in Patients With Globozoospermia or With Abnormal Acrosomes

(2011) Sonia Brahem et al.   UROLOGY

A newly discovered mutation in PICK1 in a human with globozoospermia

(2010) Gang Liu et al.   ASIAN JOURNAL OF ANDROLOGY

Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI

(2010) B. Sahu et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Study of aneuploidy and DNA fragmentation in gametes of patients with severe teratozoospermia

(2010) A. Perrin et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Fertilisation and pregnancy outcome after ICSI in globozoospermic patients without assisted oocyte activation

(2009) S. Bechoua et al.   ANDROLOGIA

A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation

(2009) Akiyoshi Egashira et al.   FERTILITY AND STERILITY

Aneuploidy and DNA fragmentation in morphologically abnormal sperm

(2009) S. S. Tang et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

PICK1 deficiency causes male infertility in mice by disrupting acrosome formation

(2009) Nan Xiao et al.   JOURNAL OF CLINICAL INVESTIGATION

Complete globozoospermia associated with PLCζ deficiency treated with calcium ionophore and ICSI results in pregnancy

(2009) S.L. Taylor et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report

(2008) Enver K. Dirican et al.   ASIAN JOURNAL OF ANDROLOGY

Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient

(2008) Alberto Tejera et al.   FERTILITY AND STERILITY

A birth from the transfer of a single vitrified-warmed blastocyst using intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient

(2008) Koichi Kyono et al.   FERTILITY AND STERILITY

A Case for Clarity, Consistency, and Helpfulness: State-of-the-Art Clinical Practice Guidelines in Endocrinology Using the Grading of Recommendations, Assessment, Development, and Evaluation System

(2008) Brian A. Swiglo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM