Maria Santa Rocca

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The molecular bases of sperm thermotaxis, the temperature-oriented cell motility, are currently under investigation. Thermal perception relies on a subclass of the transient receptor potential [TRP] channels, whose member TRPV1 is acknowledged as the heat sensing receptor. Here we investigated the involvement of TRPV1 in human sperm thermotaxis. We obtained(More)
Chromosomal abnormalities may cause growth failure before or since birth. 9q duplication is reported as a cause of intrauterine growth restriction, mild dysmporphism, and intellectual disabilities. We report a case of a maternally inherited 9q21.31q21.33 duplication causing prenatal and postnatal growth restriction with feeding refusal and mild facial(More)
We report a case of a maternal inherited 7.5 Mb duplication on chromosome 9q21.31q22.33, causing early growth restriction with feeding refusal and mild facial dysmor-phisms, prenatally detected by single-nucleotide polymor-phism (SNP) array analysis. The patient was the second offspring of nonconsanguine-ous parents. Her sibling was apparently normal; her(More)
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