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Tytuł :
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Autorzy :
Catusi I; Lab. di Citogenetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy.
Recalcati MP; Lab. di Citogenetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy.
Bestetti I; Lab. di Citogenetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy.
Garzo M; Lab. di Citogenetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy.
Valtorta C; Lab. di Citogenetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy.
Alfonsi M; U.O.C. di Genetica medica, Ospedale SS Annunziata, Chieti, Italy.
Alghisi A; U.O.S. Genetica e Biologia Molecolare, Azienda ULSS 6, Vicenza, Italy.
Cappellani S; S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy.
Casalone R; SMeL specializzato Citogenetica e Genetica Medica, ASST Sette Laghi, Osp. di Circolo e Fond. Macchi, Varese, Italy.
Caselli R; U.O.C. Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Ceccarini C; Lab. di Citogenetica, A.O.U. Ospedali Riuniti, Foggia, Italy.
Ceglia C; UOSD Genetica Medica, AORN 'SG Moscati', Avellino, Italy.
Ciaschini AM; A.O.U. Ospedali Riuniti Umberto I - G.M.Lancisi - G.Salesi, Lab. Genetica Medica SOS Malattie Rare, Ancona, Italy.
Coviello D; Lab. di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Crosti F; U.S. Genetica Medica, Ospedale San Gerardo ASST Monza, Monza, Italy.
D'Aprile A; Lab. di Citogenetica, A.O.U. Ospedali Riuniti, Foggia, Italy.
Fabretto A; S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy.
Genesio R; U.O.C. di Citogenetica, A.O.U. Federico II, Napoli, Italy.
Giagnacovo M; Lab. di Genetica, ASST Lariana Ospedale Sant' Anna, Como, Italy.
Granata P; SMeL specializzato Citogenetica e Genetica Medica, ASST Sette Laghi, Osp. di Circolo e Fond. Macchi, Varese, Italy.
Longo I; U.O.C. Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Malacarne M; Lab. di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Marseglia G; S.O.D. Diagnostica Genetica, A.O.U. Careggi, Firenze, Italy.
Montaldi A; U.O.S. Genetica e Biologia Molecolare, Azienda ULSS 6, Vicenza, Italy.
Nardone AM; U.O.C. Lab. di Genetica Medica, Policlinico Tor Vergata, Roma, Italy.
Palka C; Dipartimento di Pediatria, Università G. D'Annunzio, Chieti-Pescara, Italy.
Pecile V; S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy.
Pessina C; SMeL specializzato Citogenetica e Genetica Medica, ASST Sette Laghi, Osp. di Circolo e Fond. Macchi, Varese, Italy.
Postorivo D; U.O.C. Lab. di Genetica Medica, Policlinico Tor Vergata, Roma, Italy.
Redaelli S; Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca, Monza, Italy.
Renieri A; U.O.C. Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Rigon C; U.O.C. Genetica e Epidemiologia Clinica, A.O.U. di Padova, Padova, Italy.
Tiberi F; A.O.U. Ospedali Riuniti Umberto I - G.M.Lancisi - G.Salesi, Lab. Genetica Medica SOS Malattie Rare, Ancona, Italy.
Tonelli M; LCGM Dipartimento di Medicina Molecolare e Traslazionale, Università di Brescia, Brescia, Italy.
Villa N; U.S. Genetica Medica, Ospedale San Gerardo ASST Monza, Monza, Italy.
Zilio A; U.O.S. Genetica e Biologia Molecolare, Azienda ULSS 6, Vicenza, Italy.
Zuccarello D; U.O.C. Genetica e Epidemiologia Clinica, A.O.U. di Padova, Padova, Italy.
Novelli A; U.O.C. Laboratorio di Genetica Medica, Ospedale Pediatrico del Bambino Gesù, Roma, Italy.
Larizza L; Lab. di Citogenetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy.
Giardino D; Lab. di Citogenetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jan; Vol. 8 (1), pp. e1056. Date of Electronic Publication: 2019 Dec 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis.
Autorzy :
Lombardo B; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Ceglia C; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Verdesca F; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Vitale A; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.; Dipartimento di Scienze Motorie e del Benessere, Università di Napoli 'Parthenope', Naples, Italy.
Perrotta C; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Leggiero E; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Pastore L; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
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Źródło :
Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2019 Mar 26; Vol. 57 (4), pp. e63-e66.
Typ publikacji :
Letter
MeSH Terms :
Anterior Eye Segment*
Comparative Genomic Hybridization*
Cytochrome P-450 CYP1B1/*genetics
Cytochrome P-450 CYP1B1/deficiency ; Heterozygote ; Humans ; Mutation
Opinia redakcyjna
Tytuł :
Two novel genomic rearrangements identified in suicide subjects using a-CGH array.
Autorzy :
Lombardo B
Zarrilli F
Ceglia C
Vitale A
Keller S
Sarchiapone M
Carli V
Stuppia L
Chiariotti L
Castaldo G
Pastore L
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Źródło :
Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2015 Sep 01; Vol. 53 (10), pp. e245-8.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Suicide*
Brain/*physiology
Adolescent ; Adult ; Brain Chemistry ; Brain-Derived Neurotrophic Factor/genetics ; Comparative Genomic Hybridization/methods ; DNA/analysis ; DNA/genetics ; Female ; Genome, Human ; Genomics ; Humans ; Male ; Membrane Glycoproteins/genetics ; Oligonucleotide Array Sequence Analysis/methods ; Protein-Tyrosine Kinases/genetics ; Receptor, trkB ; Young Adult
Raport
Tytuł :
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.
Autorzy :
Iossa S; DMMBM, Università di Napoli 'Federico II', Naples, Italy ; Ceinge Biotecnologie Avanzate, Naples, Italy.
Costa V; IGB 'A. Buzzati Traverso', CNR, Naples, Italy.
Corvino V; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli 'Federico II', Naples, Italy.
Auletta G; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli 'Federico II', Naples, Italy.
Barruffo L; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli 'Federico II', Naples, Italy.
Cappellani S; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
Ceglia C; Ceinge Biotecnologie Avanzate, Naples, Italy.
Cennamo G; Dipartimento di Oftalmologia, Università di Napoli 'Federico II', Naples, Italy.
D'Adamo AP; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy ; University of Trieste, Trieste, Italy.
D'Amico A; Dipartimento di Scienze Biomediche Avanzate, Università di Napoli 'Federico II', Naples, Italy.
Di Paolo N; Dipartimento di Scienze Biomediche Avanzate, Università di Napoli 'Federico II', Naples, Italy.
Forte R; Dipartimento di Oftalmologia Pediatrica, Università di Salerno, Salerno, Italy.
Gasparini P; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy ; University of Trieste, Trieste, Italy.
Laria C; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli 'Federico II', Naples, Italy.
Lombardo B; DMMBM, Università di Napoli 'Federico II', Naples, Italy ; Ceinge Biotecnologie Avanzate, Naples, Italy.
Malesci R; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli 'Federico II', Naples, Italy.
Vitale A; Dipartimento di Scienze Motorie e del Benessere, Università di Napoli 'Parthenope', Naples, Italy.
Marciano E; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli 'Federico II', Naples, Italy.
Franzè A; Ceinge Biotecnologie Avanzate, Naples, Italy ; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli 'Federico II', Naples, Italy.
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Źródło :
Molecular cytogenetics [Mol Cytogenet] 2015 Mar 20; Vol. 8, pp. 18. Date of Electronic Publication: 2015 Mar 20 (Print Publication: 2015).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Molecular analysis of cluster headache.
Autorzy :
Zarrilli F; Dipartimento di Bioscienze e Territorio, Università del Molise, Isernia, Italy †Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy §Dipartimento di Medicina Clinica e Chirurgia, Università di Napoli Federico II, Naples, Italy ∥Dipartimento di Neuroscienze e Scienze Riproduttive e Odontostomatologiche, Università di Napoli Federico II, Naples, Italy ‡CEINGE-Biotecnologie Avanzate, Naples, Italy.
Tomaiuolo R
Ceglia C
Lombardo B
Izzo B
Castaldo G
Pastore L
De Simone R
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Źródło :
The Clinical journal of pain [Clin J Pain] 2015 Jan; Vol. 31 (1), pp. 52-7.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alcohol Dehydrogenase/*genetics
Cluster Headache/*genetics
Genetic Predisposition to Disease/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Adolescent ; Adult ; Female ; Gene Frequency ; Genetic Association Studies ; Genotype ; Humans ; Male ; Middle Aged ; Orexin Receptors/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Autorzy :
Tarsitano M; CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy. Electronic address: .
Ceglia C; CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy.
Novelli A; Mendel Laboratory, Casa Sollievo della Sofferenza IRCCS, Viale Regina Margherita 261, 00198 Rome, Italy.
Capalbo A; Mendel Laboratory, Casa Sollievo della Sofferenza IRCCS, Viale Regina Margherita 261, 00198 Rome, Italy.
Lombardo B; CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy; Department Biochemistry and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.
Pastore L; CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy; Department Biochemistry and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.
Fioretti G; Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
Vicari L; Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
Pisanti MA; Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
Friso P; Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
Cavaliere ML; Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
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Źródło :
Gene [Gene] 2014 Feb 15; Vol. 536 (1), pp. 213-6. Date of Electronic Publication: 2013 Dec 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormalities, Multiple/*genetics
Chromosome Duplication/*genetics
DiGeorge Syndrome/*genetics
Growth Disorders/*genetics
Intellectual Disability/*genetics
Trisomy/*genetics
Adolescent ; Adult ; Chromosomes, Human, Pair 22/genetics ; Chromosomes, Human, Pair 8/genetics ; Female ; Humans ; Male
SCR Disease Name :
Chromosome 22q11.2 Microduplication Syndrome; Chromosome 8, trisomy
Czasopismo naukowe
Tytuł :
Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease.
Autorzy :
Lombardo B; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy. Electronic address: .
Ceglia C; CEINGE-Biotecnologie Avanzate, Naples, Italy.
Tarsitano M; CEINGE-Biotecnologie Avanzate, Naples, Italy.
Pierucci I; U.O.C. di Pediatria, Presidio Ospedaliero dell'Immacolata, Sapri, Italy.
Salvatore F; CEINGE-Biotecnologie Avanzate, Naples, Italy.
Pastore L; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy.
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Źródło :
Gene [Gene] 2014 Feb 10; Vol. 535 (2), pp. 376-9. Date of Electronic Publication: 2013 Dec 01.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Sequence Deletion*
Mitochondrial Diseases/*diagnosis
Mitochondrial Diseases/*genetics
NADH Dehydrogenase/*genetics
Chromosome Deletion ; Chromosomes, Human, Pair 5 ; Comparative Genomic Hybridization ; Exons ; Fatal Outcome ; Female ; Gene Order ; Homozygote ; Humans ; Infant ; Syndrome
Czasopismo naukowe
Tytuł :
Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.
Autorzy :
Sanna V; CEINGE-Biotecnologie Avanzate, Naples Dipartimento di Biochimica e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.
Ceglia C
Tarsitano M
Lombardo B
Coppola A
Zarrilli F
Castaldo G
Di Minno G
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Źródło :
Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2013 Jan; Vol. 11 (1), pp. 195-7.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Deletion*
Gene Duplication*
Sequence Inversion*
Blood Coagulation/*genetics
Factor VIII/*genetics
Hemophilia A/*genetics
Comparative Genomic Hybridization ; DNA Mutational Analysis ; Genetic Carrier Screening ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Hemophilia A/blood ; Hemophilia A/diagnosis ; Humans ; Infant ; Introns ; Italy ; Male ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Predictive Value of Tests ; Severity of Illness Index
Raport
Tytuł :
Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy.
Autorzy :
Castaldo G; CEINGE-Biotecnologie Avanzate, Naples, Italy.
Cerbone AM
Guida A
Tandurella I
Ingino R
Tufano A
Ceglia C
Di Minno MN
Ruocco AL
Di Minno G
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Źródło :
Thrombosis and haemostasis [Thromb Haemost] 2012 Apr; Vol. 107 (4), pp. 673-80. Date of Electronic Publication: 2012 Mar 08.
Typ publikacji :
Journal Article
MeSH Terms :
Antithrombin III/*genetics
Antithrombin III Deficiency/*genetics
Adult ; Aged ; Codon ; Female ; Gene Deletion ; Genetic Association Studies ; Genotype ; Heterozygote ; Humans ; Italy ; Male ; Middle Aged ; Mutation ; Mutation, Missense ; Phenotype ; Venous Thrombosis/genetics
Czasopismo naukowe

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