Sfoglia per ???browse.type.metadata.subjectErc2011??? LS2_1 - Genomics, comparative genomics, functional genomics
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
2021 Richard, E. M.; Bakhtiari, S.; Marsh, A. P. L.; Kaiyrzhanov, R.; Wagner, M.; Shetty, S.; Pagnozzi, A.; Nordlie, S. M.; Guida, B. S.; Cornejo, P.; Magee, H.; Liu, J.; Norton, B. Y.; Webster, R. I.; Worgan, L.; Hakonarson, H.; Li, J.; Guo, Y.; Jain, M.; Blesson, A.; Rodan, L. H.; Abbott, M. -A.; Comi, A.; Cohen, J. S.; Alhaddad, B.; Meitinger, T.; Lenz, D.; Ziegler, A.; Kotzaeridou, U.; Brunet, T.; Chassevent, A.; Smith-Hicks, C.; Ekstein, J.; Weiden, T.; Hahn, A.; Zharkinbekova, N.; Turnpenny, P.; Tucci, A.; Yelton, M.; Horvath, R.; Gungor, S.; Hiz, S.; Oktay, Y.; Lochmuller, H.; Zollino, M.; Morleo, M.; Marangi, G.; Nigro, V.; Torella, A.; Pinelli, M.; Amenta, S.; Husain, R. A.; Grossmann, B.; Rapp, M.; Steen, C.; Marquardt, I.; Grimmel, M.; Grasshoff, U.; Korenke, G. C.; Owczarek-Lipska, M.; Neidhardt, J.; Radio, F. C.; Mancini, C.; Claps Sepulveda, D. J.; McWalter, K.; Begtrup, A.; Crunk, A.; Guillen Sacoto, M. J.; Person, R.; Schnur, R. E.; Mancardi, M. M.; Kreuder, F.; Striano, P.; Zara, F.; Chung, W. K.; Marks, W. A.; van Eyk, C. L.; Webber, D. L.; Corbett, M. A.; Harper, K.; Berry, J. G.; MacLennan, A. H.; Gecz, J.; Tartaglia, M.; Salpietro, V.; Christodoulou, J.; Kaslin, J.; Padilla-Lopez, S.; Bilguvar, K.; Munchau, A.; Ahmed, Z. M.; Hufnagel, R. B.; Fahey, M. C.; Maroofian, R.; Houlden, H.; Sticht, H.; Mane, S. M.; Rad, A.; Vona, B.; Jin, S. C.; Haack, T. B.; Makowski, C.; Hirsch, Y.; Riazuddin, S.; Kruer, M. C.
Binary and microsatellite polymorphisms of the Y-chromosome in the Mbenzele pygmies from the Central African Republic
2004 Coia, Valentina; Caglià, A; Arredi, Barbara; Donati, F; Santos, Fr; Pandya, A; Taglioli, L; Paoli, G; Pascali, Vincenzo Lorenzo; Destro Bisol, G; Tyler Smith, C.
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses
2020 Dallavilla, T.; Bertelli, M.; Morresi, A.; Bushati, V.; Stuppia, L.; Beccari, T.; Chiurazzi, Pietro; Marceddu, G.
Blood presence of circulating oncofetal fibronectin mRNA, by RT-PCR, does not represent a useful specific marker for the management and follow-up of thyroid cancer patients
2012 Vendittelli, F; Raffaelli, Marco; Fadda, Guido; Carelli Alinovi, Cristiana; Paolillo, C; Bellantone, Rocco Domenico Alfonso; Zuppi, C; Capoluongo, E.
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center
2022 Poliani, L; Greco, L; Barile, M; Buono, Ad; Bianchi, P; Basso, G; Giatti, V; Genuardi, Maurizio; Malesci, A; Laghi, L
Carbohydrate-deficient transferrin determination revisited with capillary electrophoresis: a new biochemical marker of chronic alcohol abuse
1999 Tagliaro, Franco; Bortolotti, F; Zuliani, M; Crivellente, F; Manetto, G; Pascali, Vincenzo Lorenzo; Marigo, M.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
2020 Nasser, H.; Vera, L.; Elmaleh-Berges, M.; Steindl, K.; Letard, P.; Teissier, N.; Ernault, A.; Guimiot, F.; Afenjar, A.; Moutard, M. L.; Heron, D.; Alembik, Y.; Momtchilova, M.; Milani, P.; Kubis, N.; Pouvreau, N.; Zollino, Marcella; Guilmin Crepon, S.; Kaguelidou, F.; Gressens, P.; Verloes, A.; Rauch, A.; El Ghouzzi, V.; Drunat, S.; Passemard, S.
Central Hypogonadism (ICH). Germline prokineticin Receptor 2 (PROKR2) variants associated with central hypogonadism cause differential modulation of distinct intracellular pathways.
2014 Libri, D. V.; Kleinau, G.; Vezzoli, V.; Busnelli, M.; Guizzardi, F.; Sinisi, A. A.; Pincelli, A. I.; Mancini, Antonio; Russo, G.; Beck Peccoz, P.; Loche, S.; Crivellaro, C.; Maghnie, M.; Krausz, C.; Persani, L.; Bonomi, M.
The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies
2022 Antonio Russo, 1; Lorena Incorvaia, 2; Ettore Capoluongo, 3; Pierosandro Tagliaferri, 4; Antonio Galvano, 2; Marzia Del Re, 5; Umberto Malapelle, 6; Rita Chiari, 7; Pierfranco Conte, 8; Romano Danesi, 5; Matteo Fassan, 9; Roberto Ferrara, 10; Genuardi, M; Paola Ghiorzo, 12; Stefania Gori, 13; Fiorella Guadagni, 14; Antonio Marchetti, 15; Paolo Marchetti, 16; Massimo Midiri, 17; Nicola Normanno, 18; Francesco Passiglia, 19; Carmine Pinto, 20; Nicola Silvestris, 21; Giovanni Tallini, 22; Simona Vatrano, 23; Bruno Vincenzi, 24; Saverio Cinieri, 25; Giordano Beretta, 26
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome
2011 Neri, Giovanni; Nillesen, Wm; Yntema, Hg; Moscarda, Marco; Verbeek, Ne; Wilson, Lc; Cowan, F; Schepens, M; Raas Rothschild, A; Gafni, Weinstein; Zollino, Marcella; Vijzelaar, R; Nelen, M; Bokhoven, H; Giltay, J; Kleefstra, T.
Characterization of anti-D monoclonal antibody reagents based on their reactivity with the weak D phenotype
2009 Pascali, Vincenzo Lorenzo; Lai, Marco; Grasso, Cinzia; Boschi, Ilaria; D'Onofrio, Giuseppe; Leone, Giuseppe
Characterization of genetic variants of human serum transferrin by isoelectric focusing: Comparison between conventional and immobilized pH gradients, and application to a protocol for paternity testing
1988 Pascali, Vincenzo Lorenzo; Dobosz, Marina; Destro Bisol, G; D'Aloja, Ernesto
Chimpanzee DNA profiles on trial
1994 Pascali, Vincenzo Lorenzo; Destro Bisol, G.; Dobosz, Marina; D'Aloja, Ernesto; Paonessa, G.; Mereu, U.
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes
2012 Marletta, Cristina; Valli, Roberto; Pressato, Barbara; Mare, Lydia; Montalbano, Giuseppe; Menna, Giuseppe; Loffredo, Giuseppe; Bernardo, Maria Ester; Vinti, Luciana; Ferrari, Simona; Di Cesare-Merlone, Alessandra; Zecca, Marco; Lo Curto, Francesco; Locatelli, Franco; Pasquali, Francesco; Maserati, Emanuela
Clinal variation in the nuclear DNA of Europeans
1998 Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G.
Clinal variation in the nuclear DNA of Europeans. 1998
2009 Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G.
Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool
1998 Chikhi, L.; Destro Bisol, G.; Bertorelle, G.; Pascali, Vincenzo Lorenzo; Barbujani, G.
Clinical and genetic heterogeneity of amyotrophic lateral sclerosis
2013 Sabatelli, Mario; Conte, Amelia; Zollino, Marcella
Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: The role of PRKAG2 mutation
2011 Sternick, Eb; Oliva, Antonio; Gerken, Lm; Magalhães, L; Scarpelli, R; Correia, Fs; Rego, S; Santana, O; Brugada, R; Wellens, Hj
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021 Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2021 | Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss | Richard, E. M.; Bakhtiari, S.; Marsh, A. P. L.; Kaiyrzhanov, R.; Wagner, M.; Shetty, S.; Pagnozzi, A.; Nordlie, S. M.; Guida, B. S.; Cornejo, P.; Magee, H.; Liu, J.; Norton, B. Y.; Webster, R. I.; Worgan, L.; Hakonarson, H.; Li, J.; Guo, Y.; Jain, M.; Blesson, A.; Rodan, L. H.; Abbott, M. -A.; Comi, A.; Cohen, J. S.; Alhaddad, B.; Meitinger, T.; Lenz, D.; Ziegler, A.; Kotzaeridou, U.; Brunet, T.; Chassevent, A.; Smith-Hicks, C.; Ekstein, J.; Weiden, T.; Hahn, A.; Zharkinbekova, N.; Turnpenny, P.; Tucci, A.; Yelton, M.; Horvath, R.; Gungor, S.; Hiz, S.; Oktay, Y.; Lochmuller, H.; Zollino, M.; Morleo, M.; Marangi, G.; Nigro, V.; Torella, A.; Pinelli, M.; Amenta, S.; Husain, R. A.; Grossmann, B.; Rapp, M.; Steen, C.; Marquardt, I.; Grimmel, M.; Grasshoff, U.; Korenke, G. C.; Owczarek-Lipska, M.; Neidhardt, J.; Radio, F. C.; Mancini, C.; Claps Sepulveda, D. J.; McWalter, K.; Begtrup, A.; Crunk, A.; Guillen Sacoto, M. J.; Person, R.; Schnur, R. E.; Mancardi, M. M.; Kreuder, F.; Striano, P.; Zara, F.; Chung, W. K.; Marks, W. A.; van Eyk, C. L.; Webber, D. L.; Corbett, M. A.; Harper, K.; Berry, J. G.; MacLennan, A. H.; Gecz, J.; Tartaglia, M.; Salpietro, V.; Christodoulou, J.; Kaslin, J.; Padilla-Lopez, S.; Bilguvar, K.; Munchau, A.; Ahmed, Z. M.; Hufnagel, R. B.; Fahey, M. C.; Maroofian, R.; Houlden, H.; Sticht, H.; Mane, S. M.; Rad, A.; Vona, B.; Jin, S. C.; Haack, T. B.; Makowski, C.; Hirsch, Y.; Riazuddin, S.; Kruer, M. C. | |
| 1-gen-2004 | Binary and microsatellite polymorphisms of the Y-chromosome in the Mbenzele pygmies from the Central African Republic | Coia, Valentina; Caglià, A; Arredi, Barbara; Donati, F; Santos, Fr; Pandya, A; Taglioli, L; Paoli, G; Pascali, Vincenzo Lorenzo; Destro Bisol, G; Tyler Smith, C. | |
| 1-gen-2020 | Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses | Dallavilla, T.; Bertelli, M.; Morresi, A.; Bushati, V.; Stuppia, L.; Beccari, T.; Chiurazzi, Pietro; Marceddu, G. | |
| 1-gen-2012 | Blood presence of circulating oncofetal fibronectin mRNA, by RT-PCR, does not represent a useful specific marker for the management and follow-up of thyroid cancer patients | Vendittelli, F; Raffaelli, Marco; Fadda, Guido; Carelli Alinovi, Cristiana; Paolillo, C; Bellantone, Rocco Domenico Alfonso; Zuppi, C; Capoluongo, E. | |
| 1-gen-2022 | Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center | Poliani, L; Greco, L; Barile, M; Buono, Ad; Bianchi, P; Basso, G; Giatti, V; Genuardi, Maurizio; Malesci, A; Laghi, L | |
| 1-gen-1999 | Carbohydrate-deficient transferrin determination revisited with capillary electrophoresis: a new biochemical marker of chronic alcohol abuse | Tagliaro, Franco; Bortolotti, F; Zuliani, M; Crivellente, F; Manetto, G; Pascali, Vincenzo Lorenzo; Marigo, M. | |
| 1-gen-2020 | CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects | Nasser, H.; Vera, L.; Elmaleh-Berges, M.; Steindl, K.; Letard, P.; Teissier, N.; Ernault, A.; Guimiot, F.; Afenjar, A.; Moutard, M. L.; Heron, D.; Alembik, Y.; Momtchilova, M.; Milani, P.; Kubis, N.; Pouvreau, N.; Zollino, Marcella; Guilmin Crepon, S.; Kaguelidou, F.; Gressens, P.; Verloes, A.; Rauch, A.; El Ghouzzi, V.; Drunat, S.; Passemard, S. | |
| 1-gen-2014 | Central Hypogonadism (ICH). Germline prokineticin Receptor 2 (PROKR2) variants associated with central hypogonadism cause differential modulation of distinct intracellular pathways. | Libri, D. V.; Kleinau, G.; Vezzoli, V.; Busnelli, M.; Guizzardi, F.; Sinisi, A. A.; Pincelli, A. I.; Mancini, Antonio; Russo, G.; Beck Peccoz, P.; Loche, S.; Crivellaro, C.; Maghnie, M.; Krausz, C.; Persani, L.; Bonomi, M. | |
| 1-gen-2022 | The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies | Antonio Russo, 1; Lorena Incorvaia, 2; Ettore Capoluongo, 3; Pierosandro Tagliaferri, 4; Antonio Galvano, 2; Marzia Del Re, 5; Umberto Malapelle, 6; Rita Chiari, 7; Pierfranco Conte, 8; Romano Danesi, 5; Matteo Fassan, 9; Roberto Ferrara, 10; Genuardi, M; Paola Ghiorzo, 12; Stefania Gori, 13; Fiorella Guadagni, 14; Antonio Marchetti, 15; Paolo Marchetti, 16; Massimo Midiri, 17; Nicola Normanno, 18; Francesco Passiglia, 19; Carmine Pinto, 20; Nicola Silvestris, 21; Giovanni Tallini, 22; Simona Vatrano, 23; Bruno Vincenzi, 24; Saverio Cinieri, 25; Giordano Beretta, 26 | |
| 1-gen-2011 | Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome | Neri, Giovanni; Nillesen, Wm; Yntema, Hg; Moscarda, Marco; Verbeek, Ne; Wilson, Lc; Cowan, F; Schepens, M; Raas Rothschild, A; Gafni, Weinstein; Zollino, Marcella; Vijzelaar, R; Nelen, M; Bokhoven, H; Giltay, J; Kleefstra, T. | |
| 1-gen-2009 | Characterization of anti-D monoclonal antibody reagents based on their reactivity with the weak D phenotype | Pascali, Vincenzo Lorenzo; Lai, Marco; Grasso, Cinzia; Boschi, Ilaria; D'Onofrio, Giuseppe; Leone, Giuseppe | |
| 1-gen-1988 | Characterization of genetic variants of human serum transferrin by isoelectric focusing: Comparison between conventional and immobilized pH gradients, and application to a protocol for paternity testing | Pascali, Vincenzo Lorenzo; Dobosz, Marina; Destro Bisol, G; D'Aloja, Ernesto | |
| 1-gen-1994 | Chimpanzee DNA profiles on trial | Pascali, Vincenzo Lorenzo; Destro Bisol, G.; Dobosz, Marina; D'Aloja, Ernesto; Paonessa, G.; Mereu, U. | |
| 1-gen-2012 | Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes | Marletta, Cristina; Valli, Roberto; Pressato, Barbara; Mare, Lydia; Montalbano, Giuseppe; Menna, Giuseppe; Loffredo, Giuseppe; Bernardo, Maria Ester; Vinti, Luciana; Ferrari, Simona; Di Cesare-Merlone, Alessandra; Zecca, Marco; Lo Curto, Francesco; Locatelli, Franco; Pasquali, Francesco; Maserati, Emanuela | |
| 1-gen-1998 | Clinal variation in the nuclear DNA of Europeans | Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G. | |
| 1-gen-2009 | Clinal variation in the nuclear DNA of Europeans. 1998 | Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G. | |
| 1-gen-1998 | Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool | Chikhi, L.; Destro Bisol, G.; Bertorelle, G.; Pascali, Vincenzo Lorenzo; Barbujani, G. | |
| 1-gen-2013 | Clinical and genetic heterogeneity of amyotrophic lateral sclerosis | Sabatelli, Mario; Conte, Amelia; Zollino, Marcella | |
| 1-gen-2011 | Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: The role of PRKAG2 mutation | Sternick, Eb; Oliva, Antonio; Gerken, Lm; Magalhães, L; Scarpelli, R; Correia, Fs; Rego, S; Santana, O; Brugada, R; Wellens, Hj | |
| 1-gen-2021 | Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis | Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile