Sfoglia per Autore
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women
1997-01-01 Origone, P.; Di Maria, E.; Carabbio, C.; Celesti, R.; Ajmar, F.; Coviello, D. A.
Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.
1999-01-01 C., Casali; G., D'Amati; P., Bernucci; L., Debiase; C., Autore; F. M., Santorelli; Coviello, Domenico; P., Gallo
The Genoa experience of prenatal diagnosis in NF1
2000-01-01 Origone, Paola; Bonioli, Eugenio; Panucci, E; Costabel, S.; Ajmar, Franco; Coviello, Domenico
Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells.
2001-01-01 Cutolo, Maurizio; Carruba, G; Villaggio, B; Coviello, Domenico; Dayer, Jm; Campisi, I; Miele, M; Stefano, R; Castagnetta, La
Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination.
2001-01-01 Ballestrero, Alberto; Coviello, Domenico; Garuti, Anna; Nencioni, Alessio; Famà, A; Rocco, Ilaria; Bertorelli, R; Ferrando, Fabio; Gonella, Roberta; Patrone, Franco
Presence of estrogen receptors in human myeloid monocytic cells (THP-1 cell line).
2001-01-01 Cutolo, Maurizio; Villaggio, B; Bisso, A; Sulli, Alberto; Coviello, Domenico; Dayer, Jm
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
2002-01-01 Syrén, Ml; Tedeschi, S; Cesareo, L; Bellantuono, R; Colussi, G; Procaccio, M; Alì, A; Domenici, R; Malberti, F; Sprocati, M; Sacco, M; Miglietti, N; Edefonti, A; Sereni, F; Casari, G; Coviello, Domenico; Bettinelli, A.
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients
2002-01-01 Origone, P.; DE LUCA, A.; Bellini, C.; Buccino, A.; Mingarelli, R.; Costabel, S.; LA ROSA, C.; Garre', Cecilia; Coviello, Domenico; Ajmar, Franco; Dallapiccola, B.; Bonioli, Eugenio
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
2003-01-01 Primignani, P; Castorina, P; Sironi, F; Curcio, C; Ambrosetti, U; Coviello, Domenico
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
2003-01-01 Origone, P; Bellini, C; Sambarino, D; Banelli, B; Morcaldi, G; La Rosa, C; Stanzial, F; Castellan, C; Coviello, Domenico; Garrè, C; Bonioli, Eugenio
Provision of genetic services in Europe: current practices and issues.
2003-01-01 Godard, B; Kääriäinen, H; Kristoffersson, U; Tranebjaerg, L; Coviello, Domenico; Aymé, S.
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.
2003-01-01 Mariani, S; Iughetti, L; Bertorelli, R; Coviello, Domenico; Pellegrini, M; Forabosco, A; Bernasconi, S.
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.
2004-01-01 Coviello, Domenico; Brambati, B; Tului, L; Percesepe, A; Sironi, F; Sahai, A; Bertorelli, R; Forabosco, A.
Medically assisted reproduction and ethical challenges.
2005-01-01 Kääriäinen, H; Evers Kiebooms, G; Coviello, Domenico
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.
2005-01-01 Percesepe, A; Ferrari, M; Coviello, Domenico; Zanussi, M; Castagni, M; Neri, I; Travi, M; Forabosco, A; Tedeschi, S.
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.
2005-01-01 Bonioli, Eugenio; Tarò, M; Rosa, Cl; Citana, A; Bertorelli, R; Morcaldi, G; Gastaldi, R; Coviello, Domenico
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome
2005-01-01 Bettinelli, A; Borsa, N; Syrén, Ml; Mattiello, C; Coviello, Domenico; Edefonti, A; Giani, M; Travi, M; Tedeschi, S.
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories
2005-01-01 Dalprà, L; Giardino, D; Finelli, P; Corti, C; Valtorta, C; Guerneri, S; Ilardi, P; Fortuna, R; Coviello, Domenico; Nocera, G; Amico, Fp; Martinoli, E; Sala, E; Villa, N; Crosti, F; Chiodo, F; DI CANTOGNO, Lv; Savin, E; Croci, G; Franchi, F; Venti, G; Donti, E; Migliori, V; Pettinari, A; Bonifacio, S; Centrone, C; Torricelli, F; Rossi, S; Simi, P; Granata, P; Casalone, R; Lenzini, E; Artifoni, L; Pecile, V; Barlati, S; Bellotti, D; Caufin, D; Police, A; Cavani, S; Piombo, G; Pierluigi, M; Larizza, L.
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues
2006-01-01 Soini, S; Ibarreta, D; Anastasiadou, V; Aymé, S; Braga, S; Cornel, M; Coviello, Domenico; EVERS KIEBOOMS, G; Geraedts, J; Gianaroli, L; Harper, J; Kosztolanyi, G; Lundin, K; RODRIGUES CEREZO, E; Sermon, K; Sequeiros, J; Tranebjaerg, L; Kääriäinen, H; Eshg, Eshre
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.
2006-01-01 Vezzoli, G; Arcidiacono, T; Paloschi, V; Terranegra, A; Biasion, R; Weber, G; Mora, S; Syren, Ml; Coviello, Domenico; Cusi, D; Bianchi, G; Soldati, L.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women | 1-gen-1997 | Origone, P.; Di Maria, E.; Carabbio, C.; Celesti, R.; Ajmar, F.; Coviello, D. A. | |
Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid. | 1-gen-1999 | C., Casali; G., D'Amati; P., Bernucci; L., Debiase; C., Autore; F. M., Santorelli; Coviello, Domenico; P., Gallo | |
The Genoa experience of prenatal diagnosis in NF1 | 1-gen-2000 | Origone, Paola; Bonioli, Eugenio; Panucci, E; Costabel, S.; Ajmar, Franco; Coviello, Domenico | |
Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells. | 1-gen-2001 | Cutolo, Maurizio; Carruba, G; Villaggio, B; Coviello, Domenico; Dayer, Jm; Campisi, I; Miele, M; Stefano, R; Castagnetta, La | |
Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination. | 1-gen-2001 | Ballestrero, Alberto; Coviello, Domenico; Garuti, Anna; Nencioni, Alessio; Famà, A; Rocco, Ilaria; Bertorelli, R; Ferrando, Fabio; Gonella, Roberta; Patrone, Franco | |
Presence of estrogen receptors in human myeloid monocytic cells (THP-1 cell line). | 1-gen-2001 | Cutolo, Maurizio; Villaggio, B; Bisso, A; Sulli, Alberto; Coviello, Domenico; Dayer, Jm | |
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. | 1-gen-2002 | Syrén, Ml; Tedeschi, S; Cesareo, L; Bellantuono, R; Colussi, G; Procaccio, M; Alì, A; Domenici, R; Malberti, F; Sprocati, M; Sacco, M; Miglietti, N; Edefonti, A; Sereni, F; Casari, G; Coviello, Domenico; Bettinelli, A. | |
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients | 1-gen-2002 | Origone, P.; DE LUCA, A.; Bellini, C.; Buccino, A.; Mingarelli, R.; Costabel, S.; LA ROSA, C.; Garre', Cecilia; Coviello, Domenico; Ajmar, Franco; Dallapiccola, B.; Bonioli, Eugenio | |
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. | 1-gen-2003 | Primignani, P; Castorina, P; Sironi, F; Curcio, C; Ambrosetti, U; Coviello, Domenico | |
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. | 1-gen-2003 | Origone, P; Bellini, C; Sambarino, D; Banelli, B; Morcaldi, G; La Rosa, C; Stanzial, F; Castellan, C; Coviello, Domenico; Garrè, C; Bonioli, Eugenio | |
Provision of genetic services in Europe: current practices and issues. | 1-gen-2003 | Godard, B; Kääriäinen, H; Kristoffersson, U; Tranebjaerg, L; Coviello, Domenico; Aymé, S. | |
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. | 1-gen-2003 | Mariani, S; Iughetti, L; Bertorelli, R; Coviello, Domenico; Pellegrini, M; Forabosco, A; Bernasconi, S. | |
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness. | 1-gen-2004 | Coviello, Domenico; Brambati, B; Tului, L; Percesepe, A; Sironi, F; Sahai, A; Bertorelli, R; Forabosco, A. | |
Medically assisted reproduction and ethical challenges. | 1-gen-2005 | Kääriäinen, H; Evers Kiebooms, G; Coviello, Domenico | |
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination. | 1-gen-2005 | Percesepe, A; Ferrari, M; Coviello, Domenico; Zanussi, M; Castagni, M; Neri, I; Travi, M; Forabosco, A; Tedeschi, S. | |
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. | 1-gen-2005 | Bonioli, Eugenio; Tarò, M; Rosa, Cl; Citana, A; Bertorelli, R; Morcaldi, G; Gastaldi, R; Coviello, Domenico | |
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome | 1-gen-2005 | Bettinelli, A; Borsa, N; Syrén, Ml; Mattiello, C; Coviello, Domenico; Edefonti, A; Giani, M; Travi, M; Tedeschi, S. | |
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories | 1-gen-2005 | Dalprà, L; Giardino, D; Finelli, P; Corti, C; Valtorta, C; Guerneri, S; Ilardi, P; Fortuna, R; Coviello, Domenico; Nocera, G; Amico, Fp; Martinoli, E; Sala, E; Villa, N; Crosti, F; Chiodo, F; DI CANTOGNO, Lv; Savin, E; Croci, G; Franchi, F; Venti, G; Donti, E; Migliori, V; Pettinari, A; Bonifacio, S; Centrone, C; Torricelli, F; Rossi, S; Simi, P; Granata, P; Casalone, R; Lenzini, E; Artifoni, L; Pecile, V; Barlati, S; Bellotti, D; Caufin, D; Police, A; Cavani, S; Piombo, G; Pierluigi, M; Larizza, L. | |
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues | 1-gen-2006 | Soini, S; Ibarreta, D; Anastasiadou, V; Aymé, S; Braga, S; Cornel, M; Coviello, Domenico; EVERS KIEBOOMS, G; Geraedts, J; Gianaroli, L; Harper, J; Kosztolanyi, G; Lundin, K; RODRIGUES CEREZO, E; Sermon, K; Sequeiros, J; Tranebjaerg, L; Kääriäinen, H; Eshg, Eshre | |
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. | 1-gen-2006 | Vezzoli, G; Arcidiacono, T; Paloschi, V; Terranegra, A; Biasion, R; Weber, G; Mora, S; Syren, Ml; Coviello, Domenico; Cusi, D; Bianchi, G; Soldati, L. |
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