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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
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
2020 Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M.
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium
2019 Léa Guerrini-Rousseau, 1 2; Pascale Varlet, 3; Chrystelle Colas, 4; Felipe Andreiuolo, 3; Franck Bourdeaut, 5; Karin Dahan, 6; Christine Devalck, 7; Cécile Faure-Conter, 8; Genuardi, M.; Yael Goldberg, 11; Michaela Kuhlen, 12; Salma Moalla, 13; Enrico Opocher, 14; Vanessa Perez-Alonso, 15; Astrid Sehested, 16; Irene Slavc, 17; Sheila Unger, 18; Katharina Wimmer, 19; Jacques Grill, 1 2; Laurence Brugières, 1
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation
2020 Bryony, A Thompson 1 2; Rhiannon Walters, 3; Michael, T Parsons 3; Troy Dumenil, 3; Mark Drost, 4; Yvonne Tiersma, 4; Noralane, M Lindor 5; Sean, V Tavtigian 6; Niels de Wind, 4; Amanda, B Spurdle 3; Genuardi, Maurizio; InSiGHT Variant Interpretation Collaborators, Affiliations expand
Coordinating Y-chromosomal STR research for the courts
1998 Pascali, Vincenzo Lorenzo; Dobosz, Marina; Brinkmann, B.
Deciphering the patterns of genetic admixture and diversity in southern European cattle using genome-wide SNPs
2019 Upadhyay, M.; Bortoluzzi, C.; Barbato, Mario; Ajmone Marsan, Paolo; Colli, Licia; Ginja, C.; Sonstegard, T. S.; Bosse, M.; Lenstra, J. A.; Groenen, M. A. M.; Crooijmans, R. P. M. A.
Determination of alpha-1-antitrypsin subtypes in the population of Rome. A study in ultrathin-layer isoelectric focusing
1981 Pascali, Vincenzo Lorenzo; De Mercurio, Domenico
Determination of neutral haemoglobin variants by immobilized pH gradient, reversed-phase high-performance liquid chromatography and fast-atom bombardment mass spectrometry: The case of a Hb torino α 43 (CE1) Phe→Val
1988 Castagnola, Massimo; Dobosz, Marina; Landolfi, Raffaele; Pascali, Vincenzo Lorenzo; De Angelis, F.; Vettore, L.; Perona, G.
Discerning the Ancestry of European Americans in Genetic Association Studies
2008 Price, Al; Butler, J; Patterson, N; Capelli, Cristian; Pascali, Vincenzo Lorenzo; Scarnicci, Francesca; Ruiz Linares, A; Groop, L; Saetta, Aa; Korkolopoulou, P; Seligsohn, U; Waliszewska, A; Schirmer, C; Ardlie, K; Ramos, A; Nemesh, J; Arbeitman, L; Goldstein, Db; Reich, D; Hirschhorn, Jn
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
2020 Robert Blatter, # 1; Benjamin Tschupp, # 1; Stefan Aretz, 2 3; Inge Bernstein, 4; Chrystelle Colas, 5 6; D Gareth Evans, 7; Genuardi, Maurizio; Frederik, J Hes 10; Robert Hüneburg, 3 11; Heikki Järvinen, 12; Fiona Lalloo, 7; Gabriela Moeslein, 13; Laura Renkonen-Sinisalo, 12; Nicoletta Resta, 14; Isabel Spier, 2 3; Dora Varvara, 14; Hans Vasen, 15; Andrew, R Latchford 16; Karl Heinimann, 17
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway.
2007 Neri, Giovanni; Allanson, Judith; Kavamura, Ines; Noonan, J; Poss, A; Kerr, B.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
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 | |
1-gen-2020 | Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers | Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M. | |
1-gen-2019 | Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium | Léa Guerrini-Rousseau, 1 2; Pascale Varlet, 3; Chrystelle Colas, 4; Felipe Andreiuolo, 3; Franck Bourdeaut, 5; Karin Dahan, 6; Christine Devalck, 7; Cécile Faure-Conter, 8; Genuardi, M.; Yael Goldberg, 11; Michaela Kuhlen, 12; Salma Moalla, 13; Enrico Opocher, 14; Vanessa Perez-Alonso, 15; Astrid Sehested, 16; Irene Slavc, 17; Sheila Unger, 18; Katharina Wimmer, 19; Jacques Grill, 1 2; Laurence Brugières, 1 | |
1-gen-2020 | Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation | Bryony, A Thompson 1 2; Rhiannon Walters, 3; Michael, T Parsons 3; Troy Dumenil, 3; Mark Drost, 4; Yvonne Tiersma, 4; Noralane, M Lindor 5; Sean, V Tavtigian 6; Niels de Wind, 4; Amanda, B Spurdle 3; Genuardi, Maurizio; InSiGHT Variant Interpretation Collaborators, Affiliations expand | |
1-gen-1998 | Coordinating Y-chromosomal STR research for the courts | Pascali, Vincenzo Lorenzo; Dobosz, Marina; Brinkmann, B. | |
1-gen-2019 | Deciphering the patterns of genetic admixture and diversity in southern European cattle using genome-wide SNPs | Upadhyay, M.; Bortoluzzi, C.; Barbato, Mario; Ajmone Marsan, Paolo; Colli, Licia; Ginja, C.; Sonstegard, T. S.; Bosse, M.; Lenstra, J. A.; Groenen, M. A. M.; Crooijmans, R. P. M. A. | |
1-gen-1981 | Determination of alpha-1-antitrypsin subtypes in the population of Rome. A study in ultrathin-layer isoelectric focusing | Pascali, Vincenzo Lorenzo; De Mercurio, Domenico | |
1-gen-1988 | Determination of neutral haemoglobin variants by immobilized pH gradient, reversed-phase high-performance liquid chromatography and fast-atom bombardment mass spectrometry: The case of a Hb torino α 43 (CE1) Phe→Val | Castagnola, Massimo; Dobosz, Marina; Landolfi, Raffaele; Pascali, Vincenzo Lorenzo; De Angelis, F.; Vettore, L.; Perona, G. | |
1-gen-2008 | Discerning the Ancestry of European Americans in Genetic Association Studies | Price, Al; Butler, J; Patterson, N; Capelli, Cristian; Pascali, Vincenzo Lorenzo; Scarnicci, Francesca; Ruiz Linares, A; Groop, L; Saetta, Aa; Korkolopoulou, P; Seligsohn, U; Waliszewska, A; Schirmer, C; Ardlie, K; Ramos, A; Nemesh, J; Arbeitman, L; Goldstein, Db; Reich, D; Hirschhorn, Jn | |
1-gen-2020 | Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers | Robert Blatter, # 1; Benjamin Tschupp, # 1; Stefan Aretz, 2 3; Inge Bernstein, 4; Chrystelle Colas, 5 6; D Gareth Evans, 7; Genuardi, Maurizio; Frederik, J Hes 10; Robert Hüneburg, 3 11; Heikki Järvinen, 12; Fiona Lalloo, 7; Gabriela Moeslein, 13; Laura Renkonen-Sinisalo, 12; Nicoletta Resta, 14; Isabel Spier, 2 3; Dora Varvara, 14; Hans Vasen, 15; Andrew, R Latchford 16; Karl Heinimann, 17 | |
1-gen-2007 | Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. | Neri, Giovanni; Allanson, Judith; Kavamura, Ines; Noonan, J; Poss, A; Kerr, B. |
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