Search Results - "Bertini, V."

Autism spectrum disorder and genetic: a possible correlation? by Violi, M., Simoncini, M., Valetto, A., Bertini, V., Pardini, F., Massoni, L., Carmassi, C., Dell’Osso, L.

“…Introduction Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social interaction and communication, whose…”
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Vitamin D status and the immune assessment in 22q11.2 deletion syndrome by Legitimo, A., Bertini, V., Costagliola, G., Baroncelli, G. I., Morganti, R., Valetto, A., Consolini, R.

“…Summary 22q11.2 deletion syndrome (22q11.2DS) is characterized by a heterogeneous phenotype, including alterations in phospho‐calcium metabolism and…”
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Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7 by Orsini, A., Bonuccelli, A., Striano, P., Azzara, A., Costagliola, G., Consolini, R., Peroni, D.G., Valetto, A., Bertini, V.

“…Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations…”
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Methylenetetrahydrofolate reductase polymorphism (MTHFR C677T) and headache in children: a retrospective study from a tertiary level outpatient service by Orsini, A, Sammartino, I, Valetto, A, Bertini, V, Marchese, P, Bonuccelli, A, Peroni, D G

“…In adult studies the MTHFR C677T polymorphism has been associated with an increased risk of migraine, but little research has been done in this area in…”
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17q12 Microduplications: A challenge for clinicians by Bertini, V., Orsini, A., Bonuccelli, A., Cambi, F., Del Pistoia, M., Vannozzi, I., Toschi, B., Saggese, G., Simi, P., Valetto, A.

“…In the recent years, some cases of 17q12 deletions and duplications have been reported, but the clinical impact of these imbalances is still to be fully…”
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95 MDS: AN INTEGRATED WORKUP FOR A CORRECT DIAGNOSIS by Ciabatti, E, Ferreri, M, Valetto, A, Bertini, V, Guazzelli, A, Azzarà, A, Petrini, I, Guerrini, F, Grassi, S, Metelli, M, Simi, P, Petrini, M, Galimberti, S

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45,X maleness: clinical and cytogenetic features in two patients by Dati, E, Valetto, A, Bertini, V, Chiocca, E, Baroncelli, G I, Battini, R, Bertelloni, Silvano

“…45,X maleness is a very rare disorder. We report on 2 new 45,X males aged 9 10/12 and 39 years, respectively. The boy presented for developmental delay, while…”
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Inactivation of bacterial quorum sensing signals N-acyl homoserine lactones is widespread in yeasts by Leguina, Ana Carolina del V., Nieto, Carolina, Pajot, Hipólito F., Bertini, Elisa V., Mac Cormack, Walter, Castellanos de Figueroa, Lucía I., Nieto-Peñalver, Carlos G.

“…The inactivation of quorum sensing signals, a phenomenon known as quorum quenching, has been described in diverse microorganisms, though it remains almost…”
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Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22 by Battini, R., Battaglia, A., Bertini, V., Cioni, G., Parrini, B., Rapalini, E., Simi, P., Tinelli, F., Valetto, A.

“…The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial…”
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Gluconic acid produced by Gluconacetobacter diazotrophicus Pal5 possesses antimicrobial properties by Nieto-Peñalver, Carlos G., Savino, María J., Bertini, Elisa V., Sánchez, Leandro A., de Figueroa, Lucía I.C.

“…Gluconic acid is produced in large quantities by the endophytic and diazotrophic bacterium Gluconacetobacter diazotrophicus Pal5. This organic acid derives…”
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Gluconacetobacter diazotrophicus PAL5 possesses an active quorum sensing regulatory system by Bertini, Elisa V, Nieto Peñalver, Carlos G, Leguina, Ana C, Irazusta, Verónica P, de Figueroa, Lucía I. C

“…The endophytic bacterium Gluconacetobacter diazotrophicus colonizes a broad range of host plants. Its plant growth-promoting capability is related to the…”
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Pregnant women and midwives’ perception regarding physical activity recommendation during pregnancy by Scognamiglio, F, Soldà, G, Marini, S, Masini, A, Messina, R, Caravita, I, Leccese, V, Bertini, V, Parma, D, Dallolio, L

“…Introduction Physical activity (PA) is a modifiable lifestyle factor which contributes to improve pregnancy and perinatal outcomes. Therefore, pregnant women…”
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Identification of N-acyl homoserine lactones produced by Gluconacetobacter diazotrophicus PAL5 cultured in complex and synthetic media by Nieto-Peñalver, Carlos G., Bertini, Elisa V., de Figueroa, Lucía I. C.

“…The endophytic diazotrophic Gluconacetobacter diazotrophicus PAL5 was originally isolated from sugarcane ( Saccharum officinarum ). The biological nitrogen…”
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Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis by Fogu, G, Bertini, V, Dessole, S, Bandiera, P, Campus, P M, Capobianco, G, Sanna, R, Soro, G, Montella, A

“…We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several family…”
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BENZYLAMINE-RELATED COMPOUNDS STIMULATE RAT VAS DEFERENS NEUROTRANSMISSION AND POTENTIATE MEMORY IN THE MOUSE ACTING AS POTASSIUM CHANNEL BLOCKERS by BANCHELLI, G., RAIMONDI, L., GHELARDINI, C., PIRISINO, R., BERTINI, V., DE MUNNO, A., LUCCHESINI, F.

“…In stimulated rat vas deferens, the new compound 2,6-dibutylbenzylamine (B25) and some related benzylamines, first potentiated then completely inhibited…”
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The mechanism of inhibition of benzylamine oxidase by 3,5-diethoxy-4-aminomethylpyridine (B24) by Buffoni, F, Bertini, V, Dini, G

“…B24, 3,5-diethoxy-4-aminomethylpyridine, is a specific inhibitor of the semicarbazide-sensitive amine oxidase with high affinity for benzylamine (BnNH2.SSAO)…”
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Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature by Forli, Francesca, Capobianco, Silvia, Berrettini, Stefano, Bruschini, Luca, Romano, Silvia, Fogli, Antonella, Bertini, Veronica, Lazzerini, Francesco

“…: Otoferlin is a multi-C2 domain protein implicated in neurotransmitter-containing vesicle release and replenishment of the cochlear inner hair cell (IHC)…”
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Identification by gas chromatography-mass spectrometry of an adduct between pure pig plasma benzylamine oxidase and the inhibitor 3,5-diethoxy-4-aminomethylpyridine by Buffoni, F, Moneti, G, Pieraccini, G, Bertini, V

“…3,5-Diethoxy-4-aminomethylpyridine (B24) interacts with pure pig plasma benzylamine oxidase (BAO), giving a Schiff base with the carbonyl active site. This…”
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Monomers, polymers, copolymers, resins, and coated silicas containing benzylamine residues planned as artificial substrates of benzylamine oxidase by Bertini, V., Pocci, M., Picci, N., Demunno, A., Lucchesini, F., Iemma, F.

“…The new monomers 3‐(3‐methacryloxypropoxy)benzylamine and 4‐(3‐methacryloxypropoxy)benzylamine in the form of hydrochlorides have been synthesized and…”
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A New Submicroscopic Deletion That Refines the 9p Region for Sex Reversal by Calvari, Vladimiro, Bertini, Veronica, De Grandi, Alessandro, Peverali, Giuliana, Zuffardi, Orsetta, Ferguson-Smith, Malcolm, Knudtzon, Jorgen, Camerino, Giovanna, Borsani, Giuseppe, Guioli, Silvana

“…Male to female sex reversal has been described in patients with deletions of chromosome 9p, and a region critical for sex reversal has been localized to p24.3,…”
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