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Expanding the clinical and molecular spectrum of <italic>PRMT7</italic> mutations: 3 additional patients and review.
Published in:
Clinical Genetics, 2018, v. 93, n. 3, p. 675, doi. 10.1111/cge.13137
By:
- Agolini, E.;
- Dentici, M. L.;
- Bellacchio, E.;
- Alesi, V.;
- Radio, F. C.;
- Torella, A.;
- Musacchia, F.;
- Tartaglia, M.;
- Dallapiccola, B.;
- Nigro, V.;
- Digilio, M. C.;
- Novelli, A.
Publication type:
Article
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 918, doi. 10.1111/cge.12931
By:
- Verrigni, D.;
- Diodato, D.;
- Di Nottia, M.;
- Torraco, A.;
- Bellacchio, E.;
- Rizza, T.;
- Tozzi, G.;
- Verardo, M.;
- Piemonte, F.;
- Tasca, G.;
- D'Amico, A.;
- Bertini, E.;
- Carrozzo, R.
Publication type:
Article
MODY type 2 P59S GCK mutant: founder effect in South of Italy.
Published in:
Clinical Genetics, 2013, v. 83, n. 1, p. 83, doi. 10.1111/j.1399-0004.2012.01856.x
By:
- Delvecchio, M;
- Ludovico, O;
- Bellacchio, E;
- Stallone, R;
- Palladino, T;
- Mastroianno, S;
- Zelante, L;
- Sacco, M;
- Trischitta, V;
- Carella, M
Publication type:
Article
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
Published in:
Clinical Genetics, 2011, v. 80, n. 6, p. 591, doi. 10.1111/j.1399-0004.2011.01710.x
By:
- Guida, V;
- Chiappe, F;
- Ferese, R;
- Usala, G;
- Maestrale, G;
- Iannascoli, C;
- Bellacchio, E;
- Mingarelli, R;
- Digilio, MC;
- Marino, B;
- Uda, M;
- De Luca, A;
- Dallapiccola, B
Publication type:
Article
Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.
Published in:
2019
By:
- Zanni, Ginevra;
- De Magistris, P.;
- Nardella, M.;
- Bellacchio, E.;
- Barresi, S.;
- Sferra, A.;
- Ciolfi, A.;
- Motta, M.;
- Lue, H.;
- Moreno-Andres, D.;
- Tartaglia, M.;
- Bertini, E.;
- Antonin, Wolfram
Publication type:
Correction Notice
Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.
Published in:
Cerebellum, 2019, v. 18, n. 3, p. 422, doi. 10.1007/s12311-019-1010-5
By:
- Zanni, Ginevra;
- De Magistris, P.;
- Nardella, M.;
- Bellacchio, E.;
- Barresi, S.;
- Sferra, A.;
- Ciolfi, A.;
- Motta, M.;
- Lue, H.;
- Moreno-Andres, D.;
- Tartaglia, M.;
- Bertini, E.;
- Antonin, Wolfram
Publication type:
Article
Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.
Published in:
2019
By:
- Rinelli, M.;
- Bellacchio, E.;
- Berardinelli, F.;
- Pascolini, G.;
- Grammatico, P.;
- Sgura, A.;
- Iori, A. P.;
- Quattrocchi, L.;
- Novelli, A.;
- Majore, S.;
- Agolini, E.
Publication type:
journal article
Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.
Published in:
2019
By:
- Rinelli, M.;
- Bellacchio, E.;
- Berardinelli, F.;
- Pascolini, G.;
- Grammatico, P.;
- Sgura, A.;
- Iori, A. P.;
- Quattrocchi, L.;
- Novelli, A.;
- Majore, S.;
- Agolini, E.
Publication type:
Letter to the Editor
Expanding the histopathological spectrum of <italic>CFL2</italic>‐related myopathies.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1234, doi. 10.1111/cge.13240
By:
- Fattori, F.;
- Fiorillo, C.;
- Rodolico, C.;
- Tasca, G.;
- Verardo, M.;
- Bellacchio, E.;
- Pizzi, S.;
- Ciolfi, A.;
- Fagiolari, G.;
- Lupica, A.;
- Broda, P.;
- Pedemonte, M.;
- Moggio, M.;
- Bruno, C.;
- Tartaglia, M.;
- Bertini, E.;
- D'Amico, A.
Publication type:
Article
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal <italic>TUBB</italic> gene.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1223, doi. 10.1111/cge.13232
By:
- Dentici, M. L.;
- Terracciano, A.;
- Bellacchio, E.;
- Capolino, R.;
- Novelli, A.;
- Digilio, M. C.;
- Dallapiccola, B.
Publication type:
Article
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Published in:
2006
By:
- Valente EM;
- Brancati F;
- Silhavy JL;
- Castori M;
- Marsh SE;
- Barrano G;
- Bertini E;
- Boltshauser E;
- Zaki MS;
- Abdel-Aleem A;
- Abdel-Salam GM;
- Bellacchio E;
- Battini R;
- Cruse RP;
- Dobyns WB;
- Krishnamoorthy KS;
- Lagier-Tourenne C;
- Magee A;
- Pascual-Castroviejo I;
- Salpietro CD
Publication type:
Journal Article
Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex.
Published in:
2018
By:
- Cammarata‐scalisi, F.;
- Vidales Moreno, C.;
- Stock, F.;
- Avendaño, A.;
- Araque, D.;
- Lacruz‐rengel, M. A.;
- Diociaiuti, A.;
- Bellacchio, E.;
- Callea, M.
Publication type:
Case Study
Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 2, p. e94, doi. 10.1111/jdv.13800
By:
- Cammarata ‐ Scalisi, F.;
- Natsuga, K.;
- Toyonaga, E.;
- Nishie, W.;
- Shimizu, H.;
- Avendaño, A.;
- Araque, D.;
- Da Silva, G.;
- Bellacchio, E.;
- Callea, M.
Publication type:
Article
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 2, p. 341, doi. 10.1111/jdv.12747
By:
- Callea, M.;
- Nieminen, P.;
- Willoughby, C.E.;
- Clarich, G.;
- Yavuz, I.;
- Vinciguerra, A.;
- Di Stazio, M.;
- Giglio, S.;
- Sani, I.;
- Maglione, M.;
- Pensiero, S.;
- Tadini, G.;
- Bellacchio, E.
Publication type:
Article
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2015, v. 29, n. 5, p. 1032, doi. 10.1111/jdv.12457
By:
- Callea, M.;
- Willoughby, C.E.;
- Nieminen, P.;
- Di Stazio, M.;
- Bellacchio, E.;
- Giglio, S.;
- Sani, I.;
- Vinciguerra, A.;
- Maglione, M.;
- Tadini, G.;
- Clarich, G.
Publication type:
Article
Mutation screening of the DYT6/THAP1 gene in Italy.
Published in:
2009
By:
- Bonetti M;
- Barzaghi C;
- Brancati F;
- Ferraris A;
- Bellacchio E;
- Giovanetti A;
- Ialongo T;
- Zorzi G;
- Piano C;
- Petracca M;
- Albanese A;
- Nardocci N;
- Dallapiccola B;
- Bentivoglio AR;
- Garavaglia B;
- Valente EM
Publication type:
Journal Article

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