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Y chromosome microdeletions and alterations of spermatogenesis.
Three different spermatogenesis loci have been mapped on the Y chromosome and named "azoospermia factors" (AZFa, b, and c). Deletions in these regions remove one or more of the candidate genes (DAZ,Expand
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  • Open Access
Role of hormones, genes, and environment in human cryptorchidism.
Cryptorchidism is the most frequent congenital birth defect in male children (2-4% in full-term male births), and it has the potential to impact the health of the human male. In fact, although it isExpand
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Association of partial AZFc region deletions with spermatogenic impairment and male infertility
Background: Complete deletions of the AZFc region in distal Yq are the most frequent molecular genetic cause of severe male infertility. They are caused by intrachromosomal homologous recombinationExpand
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  • Open Access
Male infertility: role of genetic background.
Male infertility represents one of the clearest examples of a complex disease with a substantial genetic basis. Numerous male mouse models, mutation screening and association studies reported overExpand
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Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy.
CONTEXT An explosive growth in Y chromosome long arm (Yq) microdeletion testing demand for male infertility occurred in the past few years. However, despite the progresses in the biology of thisExpand
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Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY.
Microdeletions in Yq11 overlapping three distinct 'azoospermia factors' (AZFa-c) represent the aetiological factor of 10-15% of idiopathic azoospermia and severe oligozoospermia, with higherExpand
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Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.
Three distinct regions, designated AZFa, b and c from proximal to distal Yq, are required for normal spermato-genesis in humans. Deletions involving AZFa (deletion interval 5C/D) seem to occur lessExpand
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Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility.
The androgen receptor (AR) has two polymorphic sites in exon 1, characterized by different numbers of CAG and GGC repeats resulting in variable lengths of polyglutamine and polyglycine stretches.Expand
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  • Open Access
Mutations in the Insulin‐Like Factor 3 Receptor Are Associated With Osteoporosis
Introduction: Insulin‐like factor 3 (INSL3) is produced primarily by testicular Leydig cells. It acts by binding to its specific G protein–coupled receptor RXFP2 (relaxin family peptide 2) and isExpand
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A novel circulating hormone of testis origin in humans.
Insulin-like factor 3 (INSL3) is a member of the relaxin-insulin family, and it is expressed in pre- and postnatal Leydig cells of the testis. This peptide affects testicular descent during embryonicExpand
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