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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.
Distinct neurological disorders with ATP1A3 mutations.
2014 Gurrieri, Fiorella; Heinzen, Erin; Arzimanoglou, A; Brashear, A; Clapcote, S; Goldstein, D; Joannesson, S; Mikati, M; Neville, B; Nicole, S; Ozelius, L; Poulsen, A; Schyns, T; Sweander, K; Maagdenberg, A; Vilsen, B.
Distribution of alleles and genotypes from three hypervariable DNA loci in individuals from central and southern Italy
1993 Dobosz, Marina; D'Aloja, Ernesto; Pescarmona, M; Moscetti, A; Pascali, Vincenzo Lorenzo
Diversity of copy number variation in the worldwide goat population
2019 Liu, Mei; Zhou, Yang; Rosen, Benjamin D.; Van Tassell, Curtis P.; Stella, Alessandra; Tosser-Klopp, Gwenola; Rupp, Rachel; Palhière, Isabelle; Colli, Licia; Sayre, Brian; Crepaldi, Paola; Fang, Lingzhao; Mészáros, Gábor; Chen, Hong; Liu, George E.
DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs
2001 Gill, P.; Brenner, C.; Brinkmann, B.; Budowle, B.; Carracedo, A.; Jobling, M. a.; De Knijff, P.; Kayser, M.; Krawczak, M.; Mayr, W. r.; Morling, N.; Olaisen, B.; Pascali, Vincenzo Lorenzo; Prinz, M.; Roewer, L.; Schneider, P. m.; Sajantila, A.; Tyler Smith, C.
Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery.
2009 Neri, Giovanni; Opitz, Jm
Drug resistance and BCR-ABL kinase domain mutations in philadelphia chromosome-positive acute lymphoblastic leukemia from the imatinib to the second-generation tyrosine kinase inhibitor era: The main changes are in the type of mutations, but not in the frequency of mutation involvement
2014 Soverini, S; De Benedittis, C; Papayannidis, C; Paolini, S; Venturi, C; Iacobucci, I; Luppi, M; Bresciani, P; Salvucci, M; Russo, D; Sica, Simona; Orlandi, E; Intermesoli, T; Gozzini, A; Bonifacio, M; Rigolin, Gm; Pane, F; Baccarani, M; Cavo, M; Martinelli, G.
Efficient, small scale electroelution of high molecular weight DNA from agarose gels by a miniature vertical electrophoresis cell
1991 Pascali, Vincenzo Lorenzo; Pescarmona, M.; Dobosz, Marina; D'Aloja, Ernesto
Elements of morphology: standard terminology for the head and face
2008 Allanson, Je; Cunniff, C; Hoyme, He; Muenke, M; Neri, Giovanni
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.
2008 Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, F; Bagni, C; Chiurazzi, Pietro; Neri, Giovanni
Errors in sizing bands of hypervariable DNA profiles on autoradiograms: Are they Gaussian?
1992 Pascali, Vincenzo Lorenzo; Moscetti, A.; Dobosz, Marina; Pescarmona, M.; D'Aloja, Ernesto
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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. | |
| 1-gen-2014 | Distinct neurological disorders with ATP1A3 mutations. | Gurrieri, Fiorella; Heinzen, Erin; Arzimanoglou, A; Brashear, A; Clapcote, S; Goldstein, D; Joannesson, S; Mikati, M; Neville, B; Nicole, S; Ozelius, L; Poulsen, A; Schyns, T; Sweander, K; Maagdenberg, A; Vilsen, B. | |
| 1-gen-1993 | Distribution of alleles and genotypes from three hypervariable DNA loci in individuals from central and southern Italy | Dobosz, Marina; D'Aloja, Ernesto; Pescarmona, M; Moscetti, A; Pascali, Vincenzo Lorenzo | |
| 1-gen-2019 | Diversity of copy number variation in the worldwide goat population | Liu, Mei; Zhou, Yang; Rosen, Benjamin D.; Van Tassell, Curtis P.; Stella, Alessandra; Tosser-Klopp, Gwenola; Rupp, Rachel; Palhière, Isabelle; Colli, Licia; Sayre, Brian; Crepaldi, Paola; Fang, Lingzhao; Mészáros, Gábor; Chen, Hong; Liu, George E. | |
| 1-gen-2001 | DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs | Gill, P.; Brenner, C.; Brinkmann, B.; Budowle, B.; Carracedo, A.; Jobling, M. a.; De Knijff, P.; Kayser, M.; Krawczak, M.; Mayr, W. r.; Morling, N.; Olaisen, B.; Pascali, Vincenzo Lorenzo; Prinz, M.; Roewer, L.; Schneider, P. m.; Sajantila, A.; Tyler Smith, C. | |
| 1-gen-2009 | Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery. | Neri, Giovanni; Opitz, Jm | |
| 1-gen-2014 | Drug resistance and BCR-ABL kinase domain mutations in philadelphia chromosome-positive acute lymphoblastic leukemia from the imatinib to the second-generation tyrosine kinase inhibitor era: The main changes are in the type of mutations, but not in the frequency of mutation involvement | Soverini, S; De Benedittis, C; Papayannidis, C; Paolini, S; Venturi, C; Iacobucci, I; Luppi, M; Bresciani, P; Salvucci, M; Russo, D; Sica, Simona; Orlandi, E; Intermesoli, T; Gozzini, A; Bonifacio, M; Rigolin, Gm; Pane, F; Baccarani, M; Cavo, M; Martinelli, G. | |
| 1-gen-1991 | Efficient, small scale electroelution of high molecular weight DNA from agarose gels by a miniature vertical electrophoresis cell | Pascali, Vincenzo Lorenzo; Pescarmona, M.; Dobosz, Marina; D'Aloja, Ernesto | |
| 1-gen-2008 | Elements of morphology: standard terminology for the head and face | Allanson, Je; Cunniff, C; Hoyme, He; Muenke, M; Neri, Giovanni | |
| 1-gen-2008 | Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. | Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, F; Bagni, C; Chiurazzi, Pietro; Neri, Giovanni | |
| 1-gen-1992 | Errors in sizing bands of hypervariable DNA profiles on autoradiograms: Are they Gaussian? | Pascali, Vincenzo Lorenzo; Moscetti, A.; Dobosz, Marina; Pescarmona, M.; D'Aloja, Ernesto |
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