MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

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

Hsp90b1 knockout targeted to male germline: a mouse model for globozoospermia

(2011) Christophe Audouard et al.   FERTILITY AND STERILITY

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

A maternally inherited autosomal point mutation in human phospholipase C zeta (PLC ) leads to male infertility

(2011) J. Kashir et al.   HUMAN REPRODUCTION

Defining infertility—a systematic review of prevalence studies

(2011) S. Gurunath et al.   HUMAN REPRODUCTION UPDATE

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis

(2011) M. Ben Khelifa et al.   MOLECULAR HUMAN REPRODUCTION

Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men

(2011) Alexander N. Yatsenko et al.   MOLECULAR HUMAN REPRODUCTION

A newly discovered mutation in PICK1 in a human with globozoospermia

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

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

(2010) Charles Coutton et al.   CLINICAL BIOCHEMISTRY

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

(2010) Radu Harbuz et al.   PRENATAL DIAGNOSIS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Reduced amounts and abnormal forms of phospholipase C zeta (PLC ) in spermatozoa from infertile men

(2009) E. Heytens et al.   HUMAN REPRODUCTION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Human sperm devoid of PLC, zeta 1 fail to induce Ca2+ release and are unable to initiate the first step of embryo development

(2008) Sook-Young Yoon et al.   JOURNAL OF CLINICAL INVESTIGATION