Works by Pescucci, Chiara

Results: 15

Isolation of Fetal Cells from the Maternal Circulation: Prospects for the Non-Invasive Prenatal Diagnosis.

Published in:

Clinical Chemistry & Laboratory Medicine, 2001, v. 39, n. 6, p. 494

By:

Torricelli, Francesca;
Pescucci, Chiara

Publication type:

Article

Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.

Published in:

International Journal of Fertility & Sterility, 2016, v. 9, n. 4, p. 581

By:

Orrico, Alfredo;
Marseglia, Giuseppina;
Pescucci, Chiara;
Cortesi, Ambra;
Piomboni, Paola;
Giansanti, Andrea;
Gerundino, Francesca;
Ponchietti, Roberto

Publication type:

Article

Is Rett syndrome a loss-of-imprinting disorder?

Published in:

Nature Genetics, 2005, v. 37, n. 1, p. 10, doi. 10.1038/ng0105-10

By:

Pescucci, Chiara;
Meloni, Ilaria;
Renieri, Alessandra

Publication type:

Article

Rett syndrome: the complex nature of a monogenic disease.

Published in:

Journal of Molecular Medicine, 2003, v. 81, n. 6, p. 346, doi. 10.1007/s00109-003-0444-9

By:

Renieri, Alessandra;
Meloni, Ilaria;
Longo, Ilaria;
Ariani, Francesca;
Mari, Francesca;
Pescucci, Chiara;
Cambi, Franca

Publication type:

Article

Italian Rett database and biobank.

Published in:

2007

By:

Sampieri, Katia;
Meloni, Ilaria;
Scala, Elisa;
Ariani, Francesca;
Caselli, Rossella;
Pescucci, Chiara;
Longo, Ilaria;
Artuso, Rosangela;
Bruttini, Mirella;
Mencarelli, Maria Antonietta;
Speciale, Caterina;
Causarano, Vincenza;
Hayek, Giuseppe;
Zappella, Michele;
Renieri, Alessandra;
Mari, Francesca

Publication type:

Other

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 172, doi. 10.1002/humu.20065

By:

Ariani, Francesca;
Mari, Francesca;
Pescucci, Chiara;
Longo, Ilaria;
Bruttini, Mirella;
Meloni, Ilaria;
Hayek, Giuseppe;
Rocchi, Raffaele;
Zappella, Michele;
Renieri, Alessandra

Publication type:

Article

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Published in:

Nephrology Dialysis Transplantation, 2006, v. 21, n. 3, p. 665, doi. 10.1093/ndt/gfi312

By:

Ilaria Longo;
Elisa Scala;
Francesca Mari;
Rossella Caselli;
Chiara Pescucci;
Maria Antonietta Mencarelli;
Caterina Speciale;
Marisa Giani;
Elena Bresin;
Domenica Angela Caringella;
Zvi-Uri Borochowitz;
Komudi Siriwardena;
Ingrid Winship;
Alessandra Renieri;
Ilaria Meloni

Publication type:

Article

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosisa collaborative study of the Italian Renal Immunopathology Group.

Published in:

Nephrology Dialysis Transplantation, 2005, v. 20, n. 3, p. 545

By:

Giovanni M. Frasc;
Andrea Onetti-Muda;
Francesca Mari;
Ilaria Longo;
Elisa Scala;
Chiara Pescucci;
Dario Roccatello;
Mirella Alpa;
Rosanna Coppo;
Giovanni Li Volti;
Sandro Feriozzi;
Franco Bergesio;
Francesco P. Schena;
Alessandra Renieri

Publication type:

Article

Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript.

Published in:

Bioinformatics, 2012, v. 28, n. 24, p. 3232, doi. 10.1093/bioinformatics/bts617

By:

Benelli, Matteo;
Pescucci, Chiara;
Marseglia, Giuseppina;
Severgnini, Marco;
Torricelli, Francesca;
Magi, Alberto

Publication type:

Article

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Published in:

2008

By:

Katzaki, Eleni;
Pescucci, Chiara;
Uliana, Vera;
Papa, Filomena;
Ariani, Francesca;
Meloni, Ilaria;
Priolo, Manuela;
Selicorni, Angelo;
Milani, Donatella;
Fischetto, Rita;
Celle, Maria;
Grasso, Rita;
Dallapiccola, Bruno;
Brancati, Francesco;
Bordignon, Marta;
Tenconi, Romano;
Federico, Antonio;
Mari, Francesca;
Renieri, Alessandra;
Longo, Ilaria

Publication type:

Correction Notice

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 12, p. 1011, doi. 10.1007/s10038-007-0208-4

By:

Katzaki, Eleni;
Pescucci, Chiara;
Uliana, Vera;
Papa, Filomena;
Ariani, Francesca;
Meloni, Ilaria;
Priolo, Manuela;
Selicorni, Angelo;
Milani, Donatella;
Fischetto, Rita;
Celle, Maria Elena;
Grasso, Rita;
Dallapiccola, Bruno;
Brancati, Francesco;
Bordignon, Marta;
Tenconi, Romano;
Federico, Antonio;
Mari, Francesca;
Renieri, Alessandra;
Longo, Ilaria

Publication type:

Article

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 682, doi. 10.1038/sj.ejhg.5201198

By:

Ilaria Longo;
Luisa Russo;
Ilaria Meloni;
Iolanda Ricci;
Francesca Ariani;
Chiara Pescucci;
Carmela Tiziana Giordano;
Roberto Canitano;
Giuseppe Hayek;
Michele Zappella;
Giovanni Neri;
Alessandra Renieri;
Fiorella Gurrieri

Publication type:

Article

GENETIC DISORDERS - DEVELOPMENT Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene.

Published in:

Kidney International, 2004, v. 65, n. 5, p. 1598, doi. 10.1111/j.1523-1755.2004.00560.x

By:

Pescucci, Chiara;
Mari, Francesca;
Longo, Ilaria;
Vogiatzi, Paraskevi;
Caselli, Rossella;
Scala, Elisa;
Abaterusso, Cataldo;
Gusmano, Rosanna;
Seri, Marco;
Miglietti, Nunzia;
Bresin, Elena;
Renieri, Alessandra

Publication type:

Article

Identification and characterization of novel ETV4 splice variants in prostate cancer.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29484-1

By:

Cosi, Irene;
Moccia, Annalisa;
Pescucci, Chiara;
Munagala, Uday;
Di Giorgio, Salvatore;
Sineo, Irene;
Conticello, Silvestro G.;
Notaro, Rosario;
De Angioletti, Maria

Publication type:

Article

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1935, doi. 10.1093/hmg/ddi198

By:

Mari, Francesca;
Azimonti, Sara;
Bertani, Ilaria;
Bolognese, Fabrizio;
Colombo, Elena;
Caselli, Rossella;
Scala, Elisa;
Longo, Ilaria;
Grosso, Salvatore;
Pescucci, Chiara;
Ariani, Francesca;
Hayek, Giuseppe;
Balestri, Paolo;
Bergo, Anna;
Badaracco, Gianfranco;
Zappella, Michele;
Broccoli, Vania;
Renieri, Alessandra;
Kilstrup-Nielsen, Charlotte;
Landsberger, Nicoletta

Publication type:

Article