Search Results - "Imperati, Floriana" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

by Cappuccio, Gerarda, Attanasio, Sergio, Alagia, Marianna, Mutarelli, Margherita, Borzone, Roberta, Karali, Marianthi, Genesio, Rita, Mormile, Angela, Nitsch, Lucio, Imperati, Floriana, Esposito, Annalisa, Banfi, Sandro, Del Giudice, Ennio, Brunetti-Pierri, Nicola
Published in European journal of human genetics : EJHG (01.09.2019)

Get full text

Journal Article

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy

by Terrone, Gaetano, Pinelli, Michele, Bernardo, Pia, Parrini, Elena, Imperati, Floriana, Brunetti-Pierri, Nicola, Del Giudice, Ennio
Published in European journal of paediatric neurology (01.09.2020)

Get full text

Journal Article

Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1

Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1

by Titomanlio, Luigi, Pierri, Nicola Brunetti, Romano, Alfonso, Imperati, Floriana, Borrelli, Melissa, Barletta, Valentina, Diano, Alvaro Antonio, Castaldo, Imma, Santoro, Lucio, Del Giudice, Ennio
Published in American journal of medical genetics. Part A (15.07.2005)

Get full text

Journal Article

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

by Pinelli, Michele, Terrone, Gaetano, Troglio, Flavia, Squeo, Gabriella Maria, Cappuccio, Gerarda, Imperati, Floriana, Pignataro, Piero, Genesio, Rita, Nitch, Lucio, Del Giudice, Ennio, Merla, Giuseppe, Testa, Giuseppe, Brunetti‐Pierri, Nicola
Published in Clinical genetics (01.06.2020)

Get full text

Journal Article

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects

by Terrone, Gaetano, Vitiello, Giuseppina, Genesio, Rita, D'Amico, Alessandra, Imperati, Floriana, Ugga, Lorenzo, Giugliano, Teresa, Piluso, Giulio, Nitsch, Lucio, Brunetti-Pierri, Nicola, Del Giudice, Ennio
Published in European journal of paediatric neurology (01.11.2017)

Get full text

Journal Article

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

by Melis, Daniela, Genesio, Rita, Boemio, Pasquale, Del Giudice, Ennio, Cappuccio, Gerarda, Mormile, Angela, Ronga, Valentina, Conti, Anna, Imperati, Floriana, Nitsch, Lucio, Andria, Generoso
Published in American journal of medical genetics. Part A (01.04.2012)

Get full text

Journal Article

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients

by Terrone, Gaetano, D'Amico, Alessandra, Imperati, Floriana, Carella, Massimo, Palumbo, Orazio, Gentile, Mattia, Canani, Roberto Berni, Melis, Daniela, Romano, Alfonso, Parente, Iolanda, Riccitelli, Marina, Del Giudice, Ennio
Published in European journal of medical genetics (01.08.2012)

Get full text

Journal Article

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

by Melis, Daniela, Genesio, Rita, Cappuccio, Gerarda, MariaGinocchio, Virginia, Casa, Roberto Della, Menna, Giuseppe, Buffardi, Salvatore, Poggi, Vincenzo, Leszle, Anna, Imperati, Floriana, Carella, Massimo, Izzo, Antonella, Del Giudice, Ennio, Nitsch, Lucio, Andria, Generoso
Published in American journal of medical genetics. Part A (01.07.2011)

Get full text

Journal Article

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

by Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D'Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Published in Orphanet journal of rare diseases (10.05.2014)

Get full text

Journal Article

An emerging phenotype of proximal 11q deletions

An emerging phenotype of proximal 11q deletions

by Melis, Daniela, Genesio, Rita, Cozzolino, Mariarosaria, Del Giudice, Ennio, Mormile, Angela, Imperati, Floriana, Ronga, Valentina, Della Casa, Roberto, Nitsch, Lucio, Andria, Generoso
Published in European journal of medical genetics (01.09.2010)

Get full text

Journal Article

Hormonal and neuropsychological evaluation of two 47,XYY patients with pituitary abnormalities

Hormonal and neuropsychological evaluation of two 47,XYY patients with pituitary abnormalities

by Lettiero, Teresa, Giudice, Ennio Del, Imperati, Floriana, Ciao, Alessandro, Capalbo, Donatella, Salerno, Mariacarolina
Published in American journal of medical genetics. Part A (01.02.2008)

Get full text

Journal Article

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring

by Melis, Daniela, Genesio, Rita, Del Giudice, Ennio, Taurisano, Roberta, Mormile, Angela, D'Elia, Federica, Conti, Anna, Imperati, Floriana, Andria, Generoso, Nitsch, Lucio
Published in Clinical dysmorphology (01.01.2012)

Get more information

Journal Article

Visual and spatial positive phenomena in the neglected hemifield--a case report

Visual and spatial positive phenomena in the neglected hemifield--a case report

by Grossi, Dario, Imperati, Floriana, Carbone, Giuseppe, Maiorino, Antonio, Angelillo, Valentina, Trojano, Luigi
Published in Journal of neurology (01.06.2005)

Get full text

Journal Article

Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

by Del Giudice, Ennio, Bianchi, Maria Cristina, Tosetti, Michela, Varrone, Andrea, Romano, Alfonso, Crisanti, Angela Francesca, Titomanlio, Luigi, Imperati, Floriana
Published in Epileptic disorders (01.12.2006)

Get full text

Journal Article

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

by Pinelli, Michele, Terrone, Gaetano, Troglio, Flavia, Squeo, Gabriella Maria, Cappuccio, Gerarda, Imperati, Floriana, Pignataro, Piero, Genesio, Rita, Nitch, Lucio, Del Giudice, Ennio, Merla, Giuseppe, Testa, Giuseppe, Brunetti-Pierri, Nicola
Published in Clinical genetics (01.06.2020)

Get full text

Report

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

by Melis, Daniela, Genesio, Rita, Boemio, Pasquale, Del Giudice, Ennio, Cappuccio, Gerarda, Mormile, Angela, Ronga, Valentina, Conti, Anna, Imperati, Floriana, Nitsch, Lucio, Andria, Generoso
Published in American Journal of Medical Genetics Part A (01.04.2012)

Get full text

Report

An emerging phenotype of proximal 11q deletions

An emerging phenotype of proximal 11q deletions

by Melis, Daniela, Genesio, Rita, Cozzolino, Mariarosaria, Del Giudice, Ennio, Mormile, Angela, Imperati, Floriana, Ronga, Valentina, Della Casa, Roberto, Nitsch, Lucio, Andria, Generoso
Published in European journal of medical genetics (01.09.2010)

Get full text

Report

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

by Melis, Daniela, Genesio, Rita, Cappuccio, Gerarda, MariaGinocchio, Virginia, Casa, Roberto Della, Menna, Giuseppe, Buffardi, Salvatore, Poggi, Vincenzo, Leszle, Anna, Imperati, Floriana, Carella, Massimo, Izzo, Antonella, Del Giudice, Ennio, Nitsch, Lucio, Andria, Generoso
Published in American Journal of Medical Genetics Part A (01.07.2011)

Get full text

Report

Visual and spatial positive phenomena in the neglected hemifield--a case report

Visual and spatial positive phenomena in the neglected hemifield--a case report

by Grossi, Dario, Imperati, Floriana, Carbone, Giuseppe, Maiorino, Antonio, Angelillo, Valentina, Trojano, Luigi
Published in Journal of neurology (01.06.2005)

Get full text

Report

Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1

Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1

by Titomanlio, Luigi, Pierri, Nicola Brunetti, Romano, Alfonso, Imperati, Floriana, Borrelli, Melissa, Barletta, Valentina, Diano, Alvaro Antonio, Castaldo, Imma, Santoro, Lucio, Del Giudice, Ennio
Published in American Journal of Medical Genetics Part A (15.07.2005)

Get full text

Report