Search Results - "Siniscalco, Marcello"

A global view of the OCA2-HERC2 region and pigmentation by Donnelly, Michael P., Paschou, Peristera, Grigorenko, Elena, Gurwitz, David, Barta, Csaba, Lu, Ru-Band, Zhukova, Olga V., Kim, Jong-Jin, Siniscalco, Marcello, New, Maria, Li, Hui, Kajuna, Sylvester L. B., Manolopoulos, Vangelis G., Speed, William C., Pakstis, Andrew J., Kidd, Judith R., Kidd, Kenneth K.

“…Mutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms in and around OCA2 have also been associated with normal…”
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The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans by Donnelly, Michael P., Paschou, Peristera, Grigorenko, Elena, Gurwitz, David, Mehdi, Syed Qasim, Kajuna, Sylvester L.B., Barta, Csaba, Kungulilo, Selemani, Karoma, N.J., Lu, Ru-Band, Zhukova, Olga V., Kim, Jong-Jin, Comas, David, Siniscalco, Marcello, New, Maria, Li, Peining, Li, Hui, Manolopoulos, Vangelis G., Speed, William C., Rajeevan, Haseena, Pakstis, Andrew J., Kidd, Judith R., Kidd, Kenneth K.

“…The polymorphic inversion on 17q21, sometimes called the microtubular associated protein tau (MAPT) inversion, is an ∼900 kb inversion found primarily in…”
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Pilot study on schizophrenia in Sardinia by Ott, Jurg, Macciardi, Fabio, Shen, Yuanyuan, Carta, Mauro G, Murru, Andrea, Triunfo, Riccardo, Robledo, Renato, Rinaldi, Antoniettina, Contu, Licinio, Siniscalco, Marcello

“…Based on a small sample of cases with schizophrenia and control individuals from an isolated population, a genome-wide association study was undertaken to find…”
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A Human Y-Linked DNA Polymorphism and its Potential for Estimating Genetic and Evolutionary Distance by Casanova, Myriam, Leroy, Pascale, Boucekkine, Chafika, Weissenbach, Jean, Bishop, Colin, Fellous, Marc, Purrello, Michele, Fiori, Gianmario, Siniscalco, Marcello

“…A human DNA sequence (p12f$_{2}$), derived from a partial Y-chromosome genomic library and showing homology with the X and Y chromosomes and with an…”
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Highly polymorphic DNA site D14S1 maps to the region of Burkitt lymphoma translocation and is closely linked to the heavy chain γ1 immunoglobulin locus by Balazs, Ivan, Purrello, Michele, Rubinstein, Pablo, Alhadeff, Becky, Siniscalco, Marcello

“…Using a phage λ Charon 4A recombinant DNA clone (λCH4A-rHs18) from a human genomic library, Wyman and White detected a multiallelic common polymorphism at an…”
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Site-Specific Integration by Adeno-Associated Virus by Kotin, Robert M., Siniscalco, Marcello, Samulski, R. Jude, Zhu, Xiaodong, Hunter, Lynne, Laughlin, Catherine A., McLaughlin, Susan, Muzyczka, Nicholas, Rocchi, Marino, Berns, Kenneth I.

“…Cellular sequences flanking integrated copies of the adeno-associated virus (AAV) genome were isolated from a latently infected clonal human cell line and used…”
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A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin by Robledo, Renato, Orru, Sandro, Sidoti, Antonella, Muresu, Rosella, Esposito, Diane, Grimaldi, Marie Claude, Carcassi, Carlo, Rinaldi, Antoniettina, Bernini, Luigi, Contu, Licinio, Romani, Massimo, Roe, Bruce, Siniscalco, Marcello

“…We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The…”
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Human genome mapping and its medical perspectives by Siniscalco, M

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The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans by DONNELLY, Michael P, PASCHOU, Peristera, ZHUKOVA, Olga V, KIM, Jong-Jin, COMAS, David, SINISCALCO, Marcello, NEW, Maria, PEINING LI, HUI LI, MANOLOPOULOS, Vangelis G, SPEEDY, William C, RAJEEVAN, Haseena, GRIGORENKO, Elena, PAKSTIS, Andrew J, KIDD, Judith R, KIDD, Kenneth K, GURWITZ, David, QASIM MEHDI, Syed, KAJUNA, Sylvester L. B, BARTA, Csaba, KUNGULILO, Selemani, KAROMA, N. J, LU, Ru-Band

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A novel approach to search for identity by descent in small samples of patients and controls from the same mendelian breeding unit: a pilot study on myopia by Heath, S, Robledo, R, Beggs, W, Feola, G, Parodo, C, Rinaldi, A, Contu, L, Dana, D, Stambolian, D, Siniscalco, M

“…Autosomal dominant high myopia, a genetic disorder already mapped to region 18p11.31, is common in Carloforte (Sardinia, Italy), an isolated village of 8,000…”
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Evidence for Intergenic Complementation in Hybrid Cells Derived from Two Human Diploid Strains Each Carrying an X-Linked Mutation by Siniscalco, Marcello, Klinger, Harold P., Eagle, Harry, Koprowski, Hilary, Fujimoto, Wilfred Y., Seegmiller, J. Edwin

“…Two male diploid fibroblast strains, each carrying deficiency mutations at different X-linked loci (glucose-6-phosphate dehydrogenase and…”
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A plea to search for deletion polymorphism through genome scans in populations by Siniscalco, Marcello, Robledo, Renato, Orru, Sandro, Contu, Licinio, Yadav, Prem, Ren, Qun, Lai, Hongshing, Roe, Bruce

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Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeast-colony PCR and multiple labeling by Baldini, A, Ross, M, Nizetic, D, Vatcheva, R, Lindsay, E A, Lehrach, H, Siniscalco, M

“…Alu-PCR provides a convenient tool for amplification of human-specific sequences from yeast DNA containing yeast artificial chromosomes (YAC) clones. PCR…”
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X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele by Keitges, Elisabeth, Rivest, Martha, Siniscalco, Marcello, Gartler, Stanley M

“…In the human there is an X-linked gene affecting steroid sulphatase (STS) activity which, when deficient, is associated with X-linked congenital ichthyosis…”
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Preferential integration of the Ad5/SV40 hybrid virus at the highly recombinogenic human chromosomal site 1p36 by Romani, M, De Ambrosis, A, Alhadeff, B, Purrello, M, Gluzman, Y, Siniscalco, M

“…Human fibroblasts transformed with an adenovirus-5/simian virus 40 recombinant construct (Ad5/SV40) were analyzed to determine the chromosomal site(s) of virus…”
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Analysis of a viral integration event in a CG-rich region at the 1p36 human chromosomal site by Romani, M, Casciano, I, Querzola, F, De Ambrosis, A, Siniscalco, M

“…The preinsertion site of an adenovirus-5/simian virus 40 recombinant construct (Ad5/SV40) has been cloned and sequenced. Our data suggest that viral…”
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Correspondence: Misinformation by SINISCALCO, MARCELLO

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Mapping on human and mouse chromosomes of the gene for the beta-galactoside-binding protein, an autocrine-negative growth factor by Baldini, A, Gress, T, Patel, K, Muresu, R, Chiariotti, L, Williamson, P, Boyd, Y, Casciano, I, Wells, V, Bruni, C B

“…The structural gene for beta-galactoside-binding protein (Lgals-1), a cell growth regulatory molecule and cystostatic factor, is assigned to the E-region of…”
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Cytological Mapping of the Human Glucose-6-phosphate Dehydrogenase Gene Distal to the Fragile-X Site Suggests a High Rate of Meiotic Recombination across This Site by Szabo, Paul, Purrello, Michele, Rocchi, Mariano, Archidiacono, Nicoletta, Alhadeff, Becky, Filippi, Giorgio, Toniolo, Daniela, Martini, Giuseppe, Luzzatto, Lucio, Siniscalco, Marcello

“…The human gene for glucose-6-phosphate dehydrogenase (G6PD) has been subregionally mapped to band Xq28 by segregation analysis in rodent-human somatic cell…”
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Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect by ROCCHI, M, ARCHIDIACONO, N, RINALDI, A, FILIPPI, G, BARTOLUCCI, G, SANNIO FANCELLO, G, SINISCALCO, M

“…The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation…”
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