Paola Grammatico - From the Experimental Medicine and Pathology Department, University “La Sapienza,”

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An Inherited TBX3 Alteration in a Prenatal Case of Ulnar-Mammary Syndrome: Clinical Assessment and Functional Characterization in Drosophila Melanogaster

Bottillo Irene, D'Alessandro Andrea, Ciccone Maria Pia,Cestra Gianluca, Di Giacomo Gianluca,Silvestri Evelina, Castori Marco, Brancati Francesco,Lenzi Andrea,Paiardini Alessandro, Majore Silvia,Cenci Giovanni,Grammatico Paola

Journal of cellular physiology（2024）

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A Pathogenic Variant in the FLCN Gene Presenting with Pure Dementia: is Autophagy at the Intersection Between Neurodegeneration and Cancer

Irene Bottillo,Luigi Laino,Alessia Azzara,Carla Lintas,Ilaria Cassano,Vincenzo Di Lazzaro,Francesca Ursini,Francesco Motolese,Simone Bargiacchi,Daniela Formicola,Paola Grammatico,Fiorella Gurrieri

FRONTIERS IN NEUROSCIENCE (2024)

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Dilated Cardiomyopathy Due to a Novel Combination of TTN and BAG3 Genetic Variants: from Acute Heart Failure to Subclinical Phenotypes

Irene Bottillo,Carla Giordano, Maria Pia Ciccone,Maria Gemma Pignataro, Fiammetta Albi,Gabriella Parisi,Daniela Formicola, Simona Grotta,Federico Ranocchi,Maria Valeria Giuli,Saula Checquolo,Laura Masuelli,Federica Re, Silvia Majore, Giulia d'Amati,Paola Grammatico

CARDIOVASCULAR PATHOLOGY (2024)

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Irene Bottillo, Emanuele Savino,Silvia Majore,Claudia Mulargia,Michele Valiante,Alessandro Ferraris, Valentina Rossi, Francesca Svegliati, Maria Pia Ciccone, Francesca Brusco,Barbara Grammatico, Gianluca Di Giacomo,Simone Bargiacchi,Daniela D’Angelantonio,Paola Grammatico

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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Long-term Outcomes of COVID-19 Vaccination in Patients with Rare and Complex Connective Tissue Diseases: the ERN-ReCONNET VACCINATE Study

Journal of translational autoimmunity（2023）

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Myelodysplastic Clones Arising Post Chimeric Antigen Receptor T Cell Therapy (Car-T) Procedure: a Casuality or a New Entity

Alice Di Rocco,Martina Di Palma,Gianna Maria D’Elia,Giovanni Iaquinta,Massimo Breccia,Francesca Mancini,Paola Grammatico,Maurizio Martelli

Annals of Hematologyno. 10 (2023): 2963-2964

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Reply to Fry, L.E.; MacLaren, R.E. Comment on “di Giosaffatte Et Al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268”

Niccolo Di Giosaffatte,Paola Grammatico,Irene Bottillo

Genesno. 12 (2023): 2161-2161

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CCND2 Mutations in Atypical Chronic Myeloid Leukemia: a Report of Two Cases

Giovanni Iaquinta,Emilia Scalzulli,Silvia Angeloni,Ida Carmosino,Alessandro Nanni Costa,Claudia Ielo,Mauro Passucci,Chiara Masucci,Maurizio Martelli,Paola Grammatico,Massimo Breccia

Leukemia & lymphoma/Leukemia and lymphomano. 10 (2023): 1730-1732

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Clinical and molecular characterization of individuals with neurofibromatosis type 1 and breast cancer: genotype-phenotype relationships

Chiara Iacovino,Niccolo Di Giosaffatte,Valentina Pinna,Stefania Cavone,Emanuele Miraglia,Francesca Picecisparascio,Valentina Guida,Paola Daniele,Maria Cecilia D'Asdia,Vincenzo Roberti,Tommaso Mazza,Elisabetta Flex,Laura Papi,Marco Tartaglia,Paola Grammatico,Sandra Giustini,Alessandro De Luca

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 562-562

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Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

Elisa Adele Colombo,Michele Valiante,Matteo Uggeri,Alessandro Orro,Silvia Majore,Paola Grammatico,Davide Gentilini,Palma Finelli,Cristina Gervasini,Pasqualina D'Ursi,Lidia Larizza

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2023）

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