Publications by authors named "Isabella Torrente"

Claim this Profile
P
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, Elisa Maria Turco, Isabella Torrente

Stem Cell Res· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Isabella Torrente

Am J Med Genet A· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente

Eur J Hum Genet· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, Isabella Torrente, Ornella Candido

Stem Cell Res· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Elisa Maria Turco, Angela Maria Giada Giovenale, Giovannina Rotundo, Martina Mazzoni, Paola Zanfardino, Isabella Torrente

Stem Cell Res· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.
Angela D'Anzi, Elisa Perciballi, Giorgia Ruotolo, Daniela Ferrari, Antonietta Notaro, Isabella Torrente

Stem Cell Res· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.
Alessia Casamassa, Alessandra Zanetti, Daniela Ferrari, Ivan Lombardi, Gaia Galluzzi, Isabella Torrente

Stem Cell Res· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, Angela D'Anzi, Valentina Guida, Isabella Torrente

Hum Mutat· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Adrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Isabella Torrente

Am J Hum Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DNA Methylation in the Diagnosis of Monogenic Diseases.
Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Isabella Torrente

Genes (Basel)· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.
Agatino Battaglia, Laura Bernardini, Isabella Torrente, Antonio Novelli, Gloria Scarselli

Am J Med Genet A· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Isabella Torrente

Eur J Hum Genet· August 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.
Francesco Nicita, Isabella Torrente, Alberto Spalice, Irene Bottillo, Laura Papetti

J Clin Neurosci· February 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis.
Mert Zeytinoglu, Ayca Aykut, Filiz Hazan, Isabella Torrente, Mehmet C Akay

Clin Dysmorphol· October 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Miryam Carecchio, Monia Magliozzi, Massimiliano Copetti, Alessandro Ferraris, Laura Bernardini, Isabella Torrente

Mov Disord· June 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
Maria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, Rosangela Ferese, Monia Magliozzi

Eur J Med Genet· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.
Pasquale Parisi, Severino Persechino, Maria Chiara Paolino, Francesco Nicita, Isabella Torrente

Ital J Pediatr· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.
Anna Guarini, Marilisa Marinelli, Simona Tavolaro, Emanuele Bellacchio, Monia Magliozzi, Isabella Torrente

Haematologica· January 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
Antonio Pizzuti, Irene Bottillo, Francesca Inzana, Valentina Lanari, Francesca Buttarelli, Isabella Torrente

Neurogenetics· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of TP53 mutations with the AmpliChip p53 research test in chronic lymphocytic leukemia: correlation with clinical outcome and gene expression profiling.
Sabina Chiaretti, Simona Tavolaro, Marilisa Marinelli, Monica Messina, Ilaria Del Giudice, Isabella Torrente

Genes Chromosomes Cancer· April 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.
Martino Ruggieri, Mario Mastrangelo, Alberto Spalice, Rosanna Mariani, Isabella Torrente

Am J Med Genet A· March 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Anna Modoni, Adele D'Amico, Bruno Dallapiccola, Maria Lucia Mereu, Luciano Merlini, Isabella Torrente

J Clin Neurophysiol· February 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.
Rossella Giuliani, Ivana Antonucci, Isabella Torrente, Paola Grammatico, Giandomenico Palka

Asian J Androl· November 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.
Irene Bottillo, Isabella Torrente, Valentina Lanari, Valentina Pinna, Sandra Giustini

Am J Med Genet A· June 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A nationwide genetic testing survey in Italy, year 2007.
Bruno Dallapiccola, Isabella Torrente, Emanuele Agolini, Arnaldo Morena, Rita Mingarelli

Genet Test Mol Biomarkers· February 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis