Search Results - "GIORDA, R"

Associations between genes methylation, postnatal risk factors and psychiatric symptoms in a clinical sample of children and adolescents: Preliminar results from the remind longitudinal study by Villa, F., Rosi, E., Grazioli, S., Mauri, M., Giorda, R., Brambilla, P., Bonivento, C., Garzitto, M., Molteni, M., Nobile, M.

“…Introduction Epigenetics hypothesizes a crucial link between postnatal risk factors, individual response to stress, DNA methylation and psychiatric…”
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An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia by Mascheretti, S., Bureau, A., Trezzi, V., Giorda, R., Marino, C.

“…Even if substantial heritability has been reported and candidate genes have been identified extensively, all known marker associations explain only a small…”
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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome by Bonaglia, M C, Giorda, R, Mani, E, Aceti, G, Anderlid, B-M, Baroncini, A, Pramparo, T, Zuffardi, O

“…Introduction: The 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed…”
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Inverted duplications deletions: underdiagnosed rearrangements?? by Zuffardi, O, Bonaglia, M, Ciccone, R, Giorda, R

“…Molecular techniques led to the discovery that several chromosome rearrangements interpreted as terminal duplications were in fact inverted duplications…”
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Refining the phenotype associated with MEF2C haploinsufficiency by Novara, F, Beri, S, Giorda, R, Ortibus, E, Nageshappa, S, Darra, F, Dalla Bernardina, B, Zuffardi, O, Van Esch, H

“…Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C…”
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An assessment of gene‐by‐environment interactions in developmental dyslexia‐related phenotypes by Mascheretti, S., Bureau, A., Battaglia, M., Simone, D., Quadrelli, E., Croteau, J., Cellino, M. R., Giorda, R., Beri, S., Maziade, M., Marino, C.

“…While the genetic and environmental contributions to developmental dyslexia (DD) have been studied extensively, the effects of identified genetic risk…”
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Association of short‐term memory with a variant within DYX1C1 in developmental dyslexia by Marino, C., Citterio, A., Giorda, R., Facoetti, A., Menozzi, G., Vanzin, L., Lorusso, M. L., Nobile, M., Molteni, M.

“…A substantial genetic contribution in the etiology of developmental dyslexia (DD) has been well documented with independent groups reporting a susceptibility…”
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EPA-1564 - Grin2B targets the most severe cognitive and behavioral impairments among disadvantaged children by Riva, V, Battaglia, M, Cattaneo, F, Lazazzera, C, Mascheretti, S, Giorda, R, Nobile, M, Maziade, M, Marino, C

“…Introduction it is well established that adversities and GRIN2B genetic variants (encoding NMDAR GluN2B subunit) are independently associated with behavioral…”
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Effect of the serotonin transporter gene and of environment on the continuity of anxiety and depression traits throughout adolescence by Nobile, M., Greco, A., Perna, G., Colombo, P., Bianchi, V., Bellina, M., Giorda, R., Monzani, D., Carlet, O., Griez, E., Molteni, M.

“…Aims. Many studies of various stress reactive phenotypes suggest that 5-HTTLPR short allele carriers (S-carriers) are characterised by the stable trait of…”
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Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion by Gagliardi, C, Bonaglia, M C, Selicorni, A, Borgatti, R, Giorda, R

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Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture by Ciccone, R, Mattina, T, Giorda, R, Bonaglia, M C, Rocchi, M, Pramparo, T, Zuffardi, O

“…Molecular definition at the BAC level of an 8p dicentric chromosome and an 8p deleted chromosome is reported in a patient with two different cell lines. The…”
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Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome by Concolino, Daniela, Rossi, Elena, Strisciuglio, Pietro, Iembo, Maria Antonietta, Giorda, Roberto, Ciccone, Roberto, Tenconi, Romano, Zuffardi, Orsetta

“…Background: Recently the genotype/phenotype map of Wolf-Hirschhorn syndrome (WHS) has been refined, using small 4p deletions covering or flanking the critical…”
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Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype by Wischmeijer, A., Magini, P., Giorda, R., Gnoli, M., Ciccone, R., Cecconi, I., Franzoni, E., Mazzanti, L., Romeo, G., Zuffardi, O., Seri, M.

“…By array-CGH, we identified a cryptic deletion of about 3.4 Mb involving the chromosomal region 11q13.2q13.4 in a child with speech and developmental delay…”
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A novel familial MECP2 mutation in a young boy : Clinical and molecular findings by VENTURA, P, GALLUZZI, R, BACCA, S. M, GIORDA, R, MASSAGLI, A

“…We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate…”
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Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia by Giorda, R, Cerritello, A, Bonaglia, M C, Bova, S, Lanzi, G, Repetti, E, Giglio, S, Baschirotto, C, Pramparo, T, Avolio, L, Bragheri, R, Maraschio, P, Zuffardi, O

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A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population by Marino, C, Giorda, R, Vanzin, L, Nobile, M, Lorusso, M L, Baschirotto, C, Riva, L, Molteni, M, Battaglia, M

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The dystrophin gene is alternatively spliced throughout its coding sequence by Sironi, M, Cagliani, R, Pozzoli, U, Bardoni, A, Comi, G.P, Giorda, R, Bresolin, N

“…We have analysed splicing patterns in the human dystrophin gene region encoding the rod and cysteine-rich domains in normal skeletal muscle, brain and heart…”
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Effect of the catechol-O-methyltransferase val(158)met genotype on children's early phases of facial stimuli processing by Battaglia, M, Zanoni, A, Giorda, R, Pozzoli, U, Citterio, A, Beri, S, Ogliari, A, Nobile, M, Marino, C, Molteni, M

“…The ability to process and identify human faces matures early in life, is universal and is mediated by a distributed neural system. The temporal dynamics of…”
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A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines by Gimelli, G, Giorda, R, Beri, S, Gimelli, S, Zuffardi, O

“…Abstract We report a new case of mosaic chromosome 3-derived marker chromosome, present in fibroblasts but not in lymphocytes, found in a child with…”
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Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population by Cagliani, R, Fortunato, F, Giorda, R, Rodolico, C, Bonaglia, M.C, Sironi, M, D'Angelo, M.G, Prelle, A, Locatelli, F, Toscano, A, Bresolin, N, Comi, G.P

“…Dysferlin, the protein product of the dysferlin gene ( DYSF), has been shown to have a role in calcium-induced membrane fusion and repair. Dysferlin is absent…”
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