Sfoglia per Autore
Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism
2012-01-01 Piccione, M.; Antona, V.; Piro, E.; Vecchio, D.; Salzano, E.; Corsello, G.
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case
2014-01-01 Palumbo, P; Antona, V; Palumbo, O; Piccione, M; Nardello, R; Fontana, A; Carella, M; Corsello, G
Intellectual disabilitiy in developmental age
2015-09-30 Giuffrè, M.; Moceri, G.; Vecchio, D.; Antona, V.; Salzano, E.; Corsello, G.
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION
2016-01-01 Vecchio, D.; Piccione, M.; D'Adamo, P.; Mignogna, M.; Salzano, E.; Giuffrè, M.; Antona, V.; Caputo, V.; Pizzuti, A.; Nardello, R.; Piro, E.; Capobianco, E.; Corsello, G.
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
2018-01-01 Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS
2018-01-01 Giuffrè, Mario; Piro, Ettore; Antona, Vincenzo; Corsello, Giovanni
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
2018-01-01 Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S
Etiological heterogeneity and clinical variability in newborns with esophageal atresia
2018-01-01 Piro, E.; Schierz, I.; Giuffrè, M.; Cuffaro, G.; La Placa, S.; Antona, V.; Matina, F.; Puccio, G.; Cimador, M.; Corsello, G.
The impact of genetic diseases on neonatal and pediatric care
2019-01-01 Mescolo F.; Pirrone I.; Antona V.; La Placa S.; Piro E.; Schierz I.A.M.; Gaglio G.; Corsello G.; Giuffre M.
NF1 microdeletion syndrome: Case report of two new patients
2019-01-01 Serra G.; Antona V.; Corsello G.; Zara F.; Piro E.; Falsaperla R.
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS
2020-01-01 Ettore Piro, Gregorio Serra, Ingrid Anne Mandy Schierz,Vincenzo Antona, Mario Giuffrè, Giovanni Corsello
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
2020-01-01 Serra G.; Corsello G.; Antona V.; D'Alessandro M.M.; Cassata N.; Cimador M.; Giuffre M.; Schierz I.A.M.; Piro E.
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review
2020-01-01 Nardello R; Mangano GD; Antona V; Fontana A; Striano P; Giorgio E; Brusco A; Mangano S; Salpietro V
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report
2020-01-01 Schierz I.A.M.; Cimador M.; Giuffre M.; Aiello C.M.; Antona V.; Corsello G.; Piro E.
The child with overgrowth between clinical variability and genetic heterogeneity
2020-01-01 Serra G.; Schierz M.; Antona V.; Giardina C.F.; Giuffre M.; Piro E.; Corsello G.
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
2020-01-01 Schierz I.A.M.; Serra G.; Antona V.; Persico I.; Corsello G.; Piro E.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2020-01-01 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
2020-01-01 Piro E.; Schierz I.A.M.; Antona V.; Pappalardo M.P.; Giuffre M.; Serra G.; Corsello G.
Recognizable neonatal clinical features of aplasia cutis congenita
2020-01-01 Schierz I.A.M.; Giuffre M.; Del Vecchio A.; Antona V.; Corsello G.; Piro E.
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient
2020-01-01 Piro E.; Serra G.; Antona V.; Giuffre M.; Giorgio E.; Sirchia F.; Schierz I.A.M.; Brusco A.; Corsello G.
| Data di pubblicazione | Titolo | Autori | Tipologia | Autore(i) | File |
|---|---|---|---|---|---|
| 1-gen-2012 | Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism | M. PiccioneV. AntonaE. PiroD. VecchioE. SalzanoG. Corsello | 10 - Proceedings::Proceedings | Piccione, M.; Antona, V.; Piro, E.; Vecchio, D.; Salzano, E.; Corsello, G. | |
| 1-gen-2014 | Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case | ANTONA, VincenzoPICCIONE, MariaNARDELLO, RosariaFONTANA, AntoninaCORSELLO, Giovanni + | 01 - Contributo in rivista::1.01 Articolo in rivista | Palumbo, P; Antona, V; Palumbo, O; Piccione, M; Nardello, R; Fontana, A; Carella, M; Corsello, G | |
| 30-set-2015 | Intellectual disabilitiy in developmental age | GIUFFRE, MarioMOCERI, GiovanniVECCHIO, DavideANTONA, VincenzoSALZANO, EmanuelaCORSELLO, Giovanni | 01 - Contributo in rivista::1.01 Articolo in rivista | Giuffrè, M.; Moceri, G.; Vecchio, D.; Antona, V.; Salzano, E.; Corsello, G. | |
| 1-gen-2016 | INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION | VECCHIO, DavidePICCIONE, MariaSALZANO, EmanuelaGIUFFRE, MarioANTONA, VincenzoNARDELLO, RosariaPIRO, EttoreCORSELLO, Giovanni + | 01 - Contributo in rivista::1.08 Poster pubblicato in rivista | Vecchio, D.; Piccione, M.; D'Adamo, P.; Mignogna, M.; Salzano, E.; Giuffrè, M.; Antona, V.; Caputo, V.; Pizzuti, A.; Nardello, R.; Piro, E.; Capobianco, E.; Corsello, G. | |
| 1-gen-2018 | Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 | Giovanni CorselloVincenzo AntonaGregorio SerraLuca LagallaMaria PiccioneEttore Piro + | 01 - Contributo in rivista::1.01 Articolo in rivista | Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro | |
| 1-gen-2018 | WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS | Giuffrè, MarioPiro, EttoreAntona, VincenzoCorsello, Giovanni | 01 - Contributo in rivista::1.01 Articolo in rivista | Giuffrè, Mario; Piro, Ettore; Antona, Vincenzo; Corsello, Giovanni | |
| 1-gen-2018 | A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. | Nardello RFontana AAntona VBeninati AMangano GDMangano S + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S | |
| 1-gen-2018 | Etiological heterogeneity and clinical variability in newborns with esophageal atresia | Piro EGiuffrè MLa Placa SAntona VCimador MCorsello G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Piro, E.; Schierz, I.; Giuffrè, M.; Cuffaro, G.; La Placa, S.; Antona, V.; Matina, F.; Puccio, G.; Cimador, M.; Corsello, G. | |
| 1-gen-2019 | The impact of genetic diseases on neonatal and pediatric care | Mescolo F.Pirrone I.Antona V.La Placa S.Piro E.Schierz I. A. M.Corsello G.Giuffre M. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Mescolo F.; Pirrone I.; Antona V.; La Placa S.; Piro E.; Schierz I.A.M.; Gaglio G.; Corsello G.; Giuffre M. | |
| 1-gen-2019 | NF1 microdeletion syndrome: Case report of two new patients | Serra G.Antona V.Corsello G.Zara F.Piro E.Falsaperla R. | 01 - Contributo in rivista::1.01 Articolo in rivista | Serra G.; Antona V.; Corsello G.; Zara F.; Piro E.; Falsaperla R. | |
| 1-gen-2020 | LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS | Ettore PiroGregorio SerraIngrid Anne Mandy SchierzVincenzo AntonaMario GiuffrèGiovanni Corsello | 01 - Contributo in rivista::1.01 Articolo in rivista | Ettore Piro, Gregorio Serra, Ingrid Anne Mandy Schierz,Vincenzo Antona, Mario Giuffrè, Giovanni Corsello | |
| 1-gen-2020 | Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome | Serra G.Corsello G.Antona V.Cimador M.Giuffre M.Schierz I. A. M.Piro E. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Serra G.; Corsello G.; Antona V.; D'Alessandro M.M.; Cassata N.; Cimador M.; Giuffre M.; Schierz I.A.M.; Piro E. | |
| 1-gen-2020 | Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review | Nardello RMangano GDAntona VFontana AMangano S + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R; Mangano GD; Antona V; Fontana A; Striano P; Giorgio E; Brusco A; Mangano S; Salpietro V | |
| 1-gen-2020 | Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report | Schierz I. A. M.Cimador M.Giuffre M.Aiello C. M.Antona V.Corsello G.Piro E. | 01 - Contributo in rivista::1.01 Articolo in rivista | Schierz I.A.M.; Cimador M.; Giuffre M.; Aiello C.M.; Antona V.; Corsello G.; Piro E. | |
| 1-gen-2020 | The child with overgrowth between clinical variability and genetic heterogeneity | Serra G.Schierz M.Antona V.Giuffre M.Piro E.Corsello G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Serra G.; Schierz M.; Antona V.; Giardina C.F.; Giuffre M.; Piro E.; Corsello G. | |
| 1-gen-2020 | Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion | Schierz I. A. M.Serra G.Antona V.Corsello G.Piro E. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Schierz I.A.M.; Serra G.; Antona V.; Persico I.; Corsello G.; Piro E. | |
| 1-gen-2020 | Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis | Antona V.Giuffre M. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A. | |
| 1-gen-2020 | Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation | Piro E.Schierz I. A. M.Antona V.Giuffre M.Serra G.Corsello G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Piro E.; Schierz I.A.M.; Antona V.; Pappalardo M.P.; Giuffre M.; Serra G.; Corsello G. | |
| 1-gen-2020 | Recognizable neonatal clinical features of aplasia cutis congenita | Schierz I. A. M.Giuffre M.Del Vecchio A.Antona V.Corsello G.Piro E. | 01 - Contributo in rivista::1.01 Articolo in rivista | Schierz I.A.M.; Giuffre M.; Del Vecchio A.; Antona V.; Corsello G.; Piro E. | |
| 1-gen-2020 | Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient | Piro E.Serra G.Antona V.Giuffre M.Schierz I. A. M.Corsello G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Piro E.; Serra G.; Antona V.; Giuffre M.; Giorgio E.; Sirchia F.; Schierz I.A.M.; Brusco A.; Corsello G. |
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