Search Results - "ZUCCARELLO, D"

Dysfunctional coping is related to impaired skin‐related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement by Bottesi, G., Spoto, A., Trevisson, E., Zuccarello, D., Vidotto, G., Cassina, M., Clementi, M.

“…Summary Background Low skin‐related quality of life (QoL) is usually associated with low levels of self‐confidence and self‐esteem and with high levels of…”
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Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia by Zuccarello, D., Ferlin, A., Cazzadore, C., Pepe, A., Garolla, A., Moretti, A., Cordeschi, G., Francavilla, S., Foresta, C.

“…BACKGROUND Asthenozoospermia (AZS) is a common cause of male infertility characterized by reduced forward motility (WHO grade A+B sperm motility <50% or A <…”
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Expression of the PDE5 enzyme on human retinal tissue: new aspects of PDE5 inhibitors ocular side effects by Foresta, C, Caretta, N, Zuccarello, D, Poletti, A, Biagioli, A, Caretti, L, Galan, A

“…Objective We tested the effect of two phosphodiesterase type-5 (PDE5) inhibitors, sildenafil and tadalafil, on ophthalmic artery (OA) blood flow velocity and…”
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Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility by Zuccarello, D., Ferlin, A., Vinanzi, C., Prana, E., Garolla, A., Callewaert, L., Claessens, F., Brinkmann, A. O., Foresta, C.

“…Summary Context   Mutations in the androgen receptor (AR) gene can cause the androgen insensitivity syndrome (AIS). For complete and severe partial AIS,…”
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Human olfactory sensitivity for bourgeonal and male infertility: a preliminary investigation by Ottaviano, G., Zuccarello, D., Menegazzo, M., Perilli, L., Marioni, G., Frigo, A. C., Staffieri, A., Foresta, C.

“…Olfactory receptor (OR) expression is also present in the sperm cells and could mediate sperm chemotaxis. OR1D2 was the first OR expressed in the testis…”
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Reduced artery diameters in Klinefelter syndrome by Foresta, C., Caretta, N., Palego, P., Ferlin, A., Zuccarello, D., Lenzi, A., Selice, R.

“…Summary Various epidemiological studies in relatively large cohorts of patients with Klinefelter syndrome (KS) described the increased morbidity and mortality…”
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Human papilloma virus in the sperm cryobank: an emerging problem? by Foresta, C., Ferlin, A., Bertoldo, A., Patassini, C., Zuccarello, D., Garolla, A.

“…Summary Human papilloma virus (HPV) infection is very common worldwide, but the actual incidence and significance of HPV infection in sperm are poorly…”
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How the human spermatozoa sense the oocyte: a new role of SDF1-CXCR4 signalling by Zuccarello, D., Ferlin, A., Garolla, A., Menegazzo, M., Perilli, L., Ambrosini, G., Foresta, C.

“…Summary For fertilization to occur in mammals, ejaculated spermatozoa must reach the egg which, following ovulation has moved from the ovary into the Fallopian…”
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Paracrine and endocrine roles of insulin-like factor 3 by Ferlin, A, Arredi, B, Zuccarello, D, Garolla, A, Selice, R, Foresta, C

“…Insulin-like factor 3 (INSL3) is expressed in Leydig cells of the testis and theca cells of the ovary. This peptide affects testicular descent by acting on…”
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Y chromosome haplogroups and susceptibility to testicular cancer by Ferlin, A., Speltra, E., Garolla, A., Selice, R., Zuccarello, D., Foresta, C.

“…Although in the past decades much progress in testicular cancer (TC) management has been made, little is known about the possible genetic causes and molecular…”
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P-352 Investigating the association between DMPK CTG repeats and female hypogonadism in patients affected by Type 1 Myotonic Dystrophy by Micaglio, E, Riva, A, Tamma, A, Villa, M, Sabatelli, L, Cardani, R, Benedetti, S, Pappone, C, Sorrentino, U, Zuccarello, D

“…Abstract Study question Is DPKM CTG repeat size correlated with hypogonadism in female patients affected by type 1 Myotonic Dystrophy? Summary answer The size…”
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Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis by Zuccarello, D, Salpietro, D C, Gangemi, S, Toscano, V, Merlino, M V, Briuglia, S, Bisignano, G, Mangino, M, Mingarelli, R, Dallapiccola, B

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O-041 Data from the ESHRE PGT Consortium - year 2021 by Spinella, F, Bronet, F, Christopikou, D, Coonen, E, De Rycke, M, Dimitriadou, E, Zuccarello, D, Goossens, V

“…Abstract Study question Which are the trends shown in data collection XXIII of the European Society of Human Reproduction and Embryology (ESHRE) PGT Consortium…”
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High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism by Novelli, A, Ceccarini, C, Bernardini, L, Zuccarello, D, Caputo, V, Digilio, MC, Mingarelli, R, Dallapiccola, B

“…About 5–10% of patients with dysmorphisms, severe mental retardation, and normal standard karyotype are affected by subtelomeric chromosome rearrangements…”
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Pure trisomy 19p syndrome in an infant with an extra ring chromosome by Novelli, A, Ceccarini, C, Bernardini, L, Zuccarello, D, Digilio, M C, Mingarelli, R, Dallapiccola, B

“…We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent…”
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Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism by Zuccarello, D, Morini, E, Douzgou, S, Ferlin, A, Pizzuti, A, Salpietro, D C, Foresta, C, Dallapiccola, B

“…In testicular descent to the scrotum, a multistep process, many anatomical and hormonal factors play a role. Cryptorchidism occurs in about 1-2% of males and…”
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A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1 by MANGINO, M, SALPIETRO, D. C, ZUCCARELLO, D, GANGEMI, S, RIGOLI, L, MERLINO, M. V, BRIUGLIA, S, BISIGNANO, G, MINGARELLI, R, DALLAPICCOLA, B

“…Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent…”
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Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family by Rigoli, L., Prisco, F., Caruso, R. A., Iafusco, D., Ursomanno, G., Zuccarello, D., Ingenito, N., Rigoli, M., Barberi, I.

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Effect of variation in form on the cost of terrestrial locomotion by FULL, R. J, ZUCCARELLO, D. A, TULLIS, A

“…The mass-specific minimum cost of terrestrial locomotion (Cmin) decreases with an increase in body mass. This generalization spans nearly eight orders of…”
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Allelic association of gene markers on chromosome 11q in Italian families with atopy by Rigoli, L, Salpietro, DC, Lavalle, R, Cafiero, G, Zuccarello, D, Barberi, I

“…In our study, the genetic linkage of the Fcε RIβ gene with atopy in 77 affected sibling pairs recruited from an Italian panel of 201 subjects has been…”
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