Search Results - "DALLAPICCOLA, B."

The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy by Michiorri, S, Gelmetti, V, Giarda, E, Lombardi, F, Romano, F, Marongiu, R, Nerini-Molteni, S, Sale, P, Vago, R, Arena, G, Torosantucci, L, Cassina, L, Russo, M A, Dallapiccola, B, Valente, E M, Casari, G

“…Mutations in the PINK1 gene cause autosomal recessive Parkinson's disease. The PINK1 gene encodes a protein kinase that is mitochondrially cleaved to generate…”
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Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene by Dentici, M.L., Terracciano, A., Bellacchio, E., Capolino, R., Novelli, A., Digilio, M.C., Dallapiccola, B.

“…Circumferential skin creases Kunze type (CSC‐KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed…”
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Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog by Digilio, M.C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M.L., Versacci, P., Dallapiccola, B., Tartaglia, M., Marino, B.

“…The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from…”
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Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome by Niceta, M., Margiotti, K., Digilio, M.C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M.L., Consoli, F., Torrente, I., Ruiz‐Perez, V.L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M.

“…Ellis‐van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases…”
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Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review by Agolini, E., Dentici, M.L., Bellacchio, E., Alesi, V., Radio, F.C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M.C., Novelli, A.

“…Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S‐adenosyl‐l‐methionine to…”
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Congenital heart defects in the recurrent 2q13 deletion syndrome by Digilio, M.C., Dentici, M.L., Loddo, S., Laino, L., Calcagni, G., Genovese, S., Capolino, R., Bottillo, I., Calvieri, G., Dallapiccola, B., Marino, B., Novelli, A., Versacci, P.

“…The recurrent 2q13 deletion syndrome is a rare genetic disorder associated with developmental delay, cardiac and urogenital malformations, and minor facial…”
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Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease by PILOTTO, Alberto, FRANCESCHI, M, MECOCCI, P, MASULLO, C, DALLAPICCOLA, B, SERIPA, D, D'ONOFRIO, G, BIZZARRO, A, MANGIALASCHE, F, CASCAVILLA, L, PARIS, F, MATERA, M. G, PILOTTO, Andrea, DANIELE, A

“…To evaluate the influence of the single nucleotide polymorphism rs1080985 in the cytochrome P450 2D6 (CYP2D6) gene on the efficacy of donepezil in patients…”
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Familial transposition of the great arteries caused by multiple mutations in laterality genes by De Luca, Alessandro, Sarkozy, Anna, Consoli, Federica, Ferese, Rosangela, Guida, Valentina, Dentici, Maria Lisa, Mingarelli, Rita, Bellacchio, Emanuele, Tuo, Giulia, Limongelli, Giuseppe, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno

“…The pathogenesis of transposition of the great arteries (TGA) is still largely unknown. In general, TGA is not associated with the more common genetic…”
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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle by De Luca, A, Sarkozy, A, Ferese, R, Consoli, F, Lepri, F, Dentici, ML, Vergara, P, De Zorzi, A, Versacci, P, Digilio, MC, Marino, B, Dallapiccola, B

“…De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. New mutations in…”
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Polymorphism of the IRGM Gene Might Predispose to Fistulizing Behavior in Crohn's Disease by LATIANO, A, PALMIERI, O, ANNESE, V, CUCCHIARA, S, CASTRO, M, D'INCA, R, GUARISO, G, DALLAPICCOLA, B, VALVANO, M. R, LATIANO, T, ANDRIULLI, A

“…Recently, genome-wide association analyses have identified single nucleotide polymorphisms in the IRGM gene (rs1000113 and rs4958847) as strong candidate…”
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RASopathies: Clinical Diagnosis in the First Year of Life by Digilio, M.C., Lepri, F., Baban, A., Dentici, M.L., Versacci, P., Capolino, R., Ferese, R., De Luca, A., Tartaglia, M., Marino, B., Dallapiccola, B.

“…Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features…”
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Pachydermoperiostosis: an update by Castori, M, Sinibaldi, L, Mingarelli, R, Lachman, RS, Rimoin, DL, Dallapiccola, B

“…Pachydermoperiostosis (PDP) is a rare genodermatosis, characterized by pachydermia, digital clubbing, periostosis and an excess of affected males. Although an…”
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The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men by Ferlin, A, Moro, E, Rossi, A, Dallapiccola, B, Foresta, C

“…Microdeletions of the Y chromosome long arm are the most common mutations in infertile males, where they involve one or more “azoospermia factors” (AZFa, b,…”
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Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors by Sarkozy, A, Conti, E, Neri, C, D’Agostino, R, Digilio, M C, Esposito, G, Toscano, A, Marino, B, Pizzuti, A, Dallapiccola, B

“…[...]conduction defects, although not detected in infancy, can manifest with increasing age, while spontaneous healing of small VSDs results in an intact…”
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Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification by De Luca, A, Bottillo, I, Dasdia, M C, Morella, A, Lanari, V, Bernardini, L, Divona, L, Giustini, S, Sinibaldi, L, Novelli, A, Torrente, I, Schirinzi, A, Dallapiccola, B

“…To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients…”
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Syndromic non-compaction of the left ventricle: associated chromosomal anomalies by Digilio, MC, Bernardini, L, Gagliardi, MG, Versacci, P, Baban, A, Capolino, R, Dentici, ML, Roberti, MC, Angioni, A, Novelli, A, Marino, B, Dallapiccola, B

“…Non‐compaction of the left ventricle (NCLV) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses…”
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P.07.10 FAECAL-ASSOCIATED AND MUCOSAL-ASSOCIATED MICROBIOTA IN INFLAMMATORY BOWEL DISEASE PATIENTS AND HEALTHY SUBJECTS: PRELIMINARY EVIDENCE by Guarino, M.P, Putignani, L, Altomare, A, Del Chierico, F, Cocca, S, Tripiciano, C, Dallapiccola, B, Cicala, M

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Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes by Sarkozy, A, Conti, E, Seripa, D, Digilio, M C, Grifone, N, Tandoi, C, Fazio, V M, Di Ciommo, V, Marino, B, Pizzuti, A, Dallapiccola, B

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome by Sarkozy, A, Conti, E, Digilio, M Cristina, Marino, B, Morini, E, Pacileo, G, Wilson, M, Calabrò, R, Pizzuti, A, Dallapiccola, B

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Genetic prediction of common diseases. Still no help for the clinical diabetologist by Prudente, S, Dallapiccola, B, Pellegrini, F, Doria, A, Trischitta, V

“…Abstract Genome-wide association studies (GWAS) have identified several loci associated with many common, multifactorial diseases which have been recently used…”
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