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The Journal of Clinical Endocrinology and Metabolism|December 13, 2007
Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patientsMassimo Torlontano, Cosimo Durante, Isabella Torrente, et al.
Obesity (Silver Spring, Md.)|January 17, 2008
Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndromeMirella Fiorito, Isabella Torrente, Salvatore De Cosmo, et al.
Stem Cell Research|June 17, 2022
Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 proteinAngela D'Anzi, Elisa Perciballi, Giorgia Ruotolo, et al.
Stem Cell Research|October 22, 2022
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 CMT4B3Elisa Maria Turco, Angela Maria Giada Giovenale, Giovannina Rotundo, et al.
Haematologica|October 14, 2011
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progressionAnna Guarini, Marilisa Marinelli, Simona Tavolaro, et al.
Stem Cell Research|June 9, 2024
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, et al.
Neurogenetics|July 26, 2006
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplificationOronzo Scarciolla, Liborio Stuppia, Maria Vittoria De Angelis, et al.
Genes, Chromosomes & Cancer|February 15, 2011
Evaluation of TP53 mutations with the AmpliChip p53 research test in chronic lymphocytic leukemia: correlation with clinical outcome and gene expression profilingSabina Chiaretti, Simona Tavolaro, Marilisa Marinelli, et al.
Human Mutation|September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC geneFrancesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
Human Mutation|October 14, 2005
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathiesEloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, et al.
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