The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect

Authors: Giada Del Baldo, Angela Mastronuzzi, Selene Cipri, Emanuele Agolini, Marta Matraxia, Antonio Novelli, Antonella Cacchione, Annalisa Serra, Andrea Carai, Luigi Boccuto, Giovanna Stefania Colafati, Pier Luigi Di Paolo, Evelina Miele, Sabina Barresi, Rita Alaggio, Sabrina Rossi, Isabella Giovannoni

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

Subject Terms: Cancer predisposition syndrome, Pediatric oncology, BRCA genes, DICER1, Cystic nephroma, Primary intracranial DICER1-mutated sarcoma, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/6e9544ccf65a442488bd95429b65a943

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

Authors: Davide Vecchio, Marina Macchiaiolo, Michaela V. Gonfiantini, Filippo M. Panfili, Francesco Petrizzelli, Niccolò Liorni, Fabiana Cortellessa, Lorenzo Sinibaldi, Ippolita Rana, Emanuele Agolini, Dario Cocciadiferro, Nicole Colantoni, Michela Semeraro, Cristiano Rizzo, Annalisa Deodati, Nicola Cotugno, Serena Caggiano, Elisabetta Verrillo, Carlotta G. Nucci, Serpil Alkan, Jorge M. Saraiva, Joaquim De Sá, Pedro M. Almeida, Jayanth Krishna, Paola S. Buonuomo, Diego Martinelli, Carlo Dionisi Vici, Viviana Caputo, Andrea Bartuli, Antonio Novelli, Tommaso Mazza

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: NALCN, IHPRF1, CLIFAHDD, channelosome complex, genotype-phenotype correlation, rhythmic behaviors, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1477940/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/e864f1bd10f74411bad1a66543ecb80b

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Authors: Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

Source: BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)

Subject Terms: PHP1A, Albright hereditary osteodystrophy, PTH resistance, GNAS mutation, Genotype–phenotype variability, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/b3347a76c4a2470bb7a3e070a6b215ba

Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report

Authors: Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa, Davide Vecchio, Michaela Veronika Gonfiantini, Paola Sabrina Buonuomo, Giovanna Stefania Colafati, Emanuele Agolini, Maria Bartuli, Alessandra Claudia Modugno, Marina Macchiaiolo

Source: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-5 (2023)

Subject Terms: Plasminogen deficiency, Case report, Topical plasminogen, Ligneous conjunctivitis, Ocular prosthesis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/1d5fad2bfbec47539ca9ca2bf77db514

Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Authors: Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli

Source: Frontiers in Genetics, Vol 14 (2024)

Subject Terms: DHCR24, desmosterolosis, genotype–phenotype correlation, structural biology, medical genetics, bioinformatics, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1307934/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/eddb7ff654c54ace841f99d9db7f610d

Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia

Authors: Francesco Fabozzi, Rosalba Carrozzo, Mariachiara Lodi, Angela Di Giannatale, Selene Cipri, Chiara Rosignoli, Isabella Giovannoni, Alessandra Stracuzzi, Teresa Rizza, Claudio Montante, Emanuele Agolini, Michela Di Nottia, Federica Galaverna, Giada Del Baldo, Francesco Del Bufalo, Angela Mastronuzzi, Maria Antonietta De Ioris

Source: Frontiers in Oncology, Vol 13 (2024)

Subject Terms: cancer predisposition syndrome, succinate dehydrogenase complex subunit C (SHDC) gene, variants of uncertain significance (VUS), neuroblastoma, acute myeloid leukemia, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2023.1324013/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/9a9082b1342045729d45a563947a18ad

Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening

Authors: Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Giulia Ceglie

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: congenital erythrocytosis, hypermanganesemia, SLC30A10, HMNDYT1, genetic testing, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1319885/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/75e0bf1198af45a399afc46be23166d1

Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation

Authors: Claudia Alteri, Rossana Scutari, Valentino Costabile, Luna Colagrossi, Katia Yu La Rosa, Emanuele Agolini, Valentina Lanari, Sara Chiurchiù, Lorenza Romani, Anna Hermine Markowich, Paola Bernaschi, Cristina Russo, Antonio Novelli, Stefania Bernardi, Andrea Campana, Alberto Villani, Carlo Federico Perno

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/103bc9b6731749cd86dccf032755b98d

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

Authors: Anna Maria Caroleo, Silvia Rotulo, Emanuele Agolini, Marina Macchiaiolo, Luigi Boccuto, Manila Antonelli, Giovanna Stefania Colafati, Antonella Cacchione, Giacomina Megaro, Andrea Carai, Maria Antonietta De Ioris, Mariachiara Lodi, Assunta Tornesello, Valeria Simone, Filippo Torroni, Giuseppe Cinalli, Angela Mastronuzzi

Source: Frontiers in Molecular Neuroscience, Vol 16 (2023)

Subject Terms: cancer predisposition syndrome (CPS), pediatric, PTHS, medulloblastoma (MB), intestinal polyp, PTEN hamartoma tumor syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1228389/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/503a38aa24fe4b618452fafd6c80ad26

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

Authors: Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo

Source: Pediatric Reports, Vol 14, Iss 1, Pp 131-139 (2022)

Subject Terms: KMT2C, Kleefstra syndrome 2, intellectual disability, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2036-7503/14/1/19; https://doaj.org/toc/2036-7503

Access URL: https://doaj.org/article/7a2fcbe8df4944f7a4b80ee74d2d00d9

Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study

Authors: Antonella Cacchione MD, Francesco Fabozzi MD, Andrea Carai MD, PhD, Giovanna Stefania Colafati MD, Giada del Baldo MD, Sabrina Rossi MD, Martino Diana MD, Giacomina Megaro MD, Giuseppe Maria Milano MD, PhD, Marina Macchiaiolo MD, Alessandro Crocoli MD, Maria Antonietta De Ioris MD, Luigi Boccuto MD, Domitilla Elena Secco MD, Mario Zama MD, Emanuele Agolini MD, Paolo Tomà, Angela Mastronuzzi MD, PhD

Source: Cancer Control, Vol 30 (2023)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1526-2359

Access URL: https://doaj.org/article/c71c0bb345cb455e834e23068b4708cd

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Authors: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini

Source: PLoS ONE, Vol 18, Iss 11 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664952/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/457a1e2e14b949feb19751ce2bb255fc

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease

Authors: Francesco Fabozzi, Rita De Vito, Stefania Gaspari, Fabrizio Leone, Maurizio Delvecchio, Emanuele Agolini, Federica Galaverna, Angela Mastronuzzi, Daria Pagliara, Maria Antonietta De Ioris

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: LRBA deficiency, Rosai-Dorfman’s disease, neonatal diabetes, primary immunodeficiencies, autoimmunity, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.944810/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/545da8a76a5b426199371beba67b5b76

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Authors: Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj

Source: HGG Advances, Vol 3, Iss 4, Pp 100122- (2022)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000380; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/2933846d32ba4a2faa49561ba57d523c

Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience

Authors: Giada Del Baldo, Andrea Carai, Rachid Abbas, Antonella Cacchione, Mara Vinci, Valentina Di Ruscio, Giovanna Stefania Colafati, Sabrina Rossi, Francesca Diomedi Camassei, Nicola Maestro, Sara Temelso, Giulia Pericoli, Emmanuel De Billy, Isabella Giovannoni, Alessia Carboni, Martina Rinelli, Emanuele Agolini, Alan Mackay, Chris Jones, Silvia Chiesa, Mario Balducci, Franco Locatelli, Angela Mastronuzzi

Source: Therapeutic Advances in Medical Oncology, Vol 14 (2022)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1758-8359

Access URL: https://doaj.org/article/6424a769c3b241c4b0d3dc614eda6a04

Inhibition of HECT E3 ligases as potential therapy for COVID-19

Authors: Giuseppe Novelli, Jing Liu, Michela Biancolella, Tonino Alonzi, Antonio Novelli, J. J. Patten, Dario Cocciadiferro, Emanuele Agolini, Vito Luigi Colona, Barbara Rizzacasa, Rosalinda Giannini, Benedetta Bigio, Delia Goletti, Maria Rosaria Capobianchi, Sandro Grelli, Justin Mann, Trevor D. McKee, Ke Cheng, Fatima Amanat, Florian Krammer, Andrea Guarracino, Gerardo Pepe, Carlo Tomino, Yacine Tandjaoui-Lambiotte, Yurdagul Uzunhan, Sarah Tubiana, Jade Ghosn, COVID Human Genetic Effort, French COVID Cohort Study Group, CoV-Contact Cohort, Luigi D. Notarangelo, Helen C. Su, Laurent Abel, Aurélie Cobat, Gai Elhanan, Joseph J. Grzymski, Andrea Latini, Sachdev S. Sidhu, Suresh Jain, Robert A. Davey, Jean-Laurent Casanova, Wenyi Wei, Pier Paolo Pandolfi

Source: Cell Death and Disease, Vol 12, Iss 4, Pp 1-18 (2021)

Subject Terms: Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/2041-4889

Access URL: https://doaj.org/article/44bb55f6f8b74b5bb5433d1a15eac416

Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4

Authors: Salvatore Zaffina, Eva Piano Mortari, Reparata Rosa Di Prinzio, Marco Cappa, Antonio Novelli, Emanuele Agolini, Massimiliano Raponi, Bruno Dallapiccola, Franco Locatelli, Carlo Federico Perno, Rita Carsetti

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: SARS-CoV-2 vaccine, CAVIN1, memory B cells, congenital generalized lipodystrophy type 4, case report, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.869042/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/4e15bd9e03e844a99c0b88fded675212

Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

Authors: Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber

Source: AboutOpen, Vol 8, Iss 1 (2021)

Subject Terms: Genetic testing, Hypophosphatemic rickets, Patient care, PHEX, X-linked hypophosphatemia, XLH diagnosis, Medicine

File Description: electronic resource

Relation: https://journals.aboutscience.eu/index.php/aboutopen/article/view/2235; https://doaj.org/toc/2465-2628

Access URL: https://doaj.org/article/7461ee12d7e64797af6f184f3bd10a32

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Authors: Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj

Source: HGG Advances, Vol 2, Iss 2, Pp 100024- (2021)

Subject Terms: Activating Signal Cointegrator 1 Complex, Subunit 3, ASCC3, neurogenetics, neuromuscular, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000051; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/cb443ab29c294cd38ee393efc5038a34

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

Authors: Giada Del Baldo, Roberto Carta, Iside Alessi, Pietro Merli, Emanuele Agolini, Martina Rinelli, Luigi Boccuto, Giuseppe Maria Milano, Annalisa Serra, Andrea Carai, Franco Locatelli, Angela Mastronuzzi

Source: Frontiers in Oncology, Vol 11 (2021)

Subject Terms: rhabdoid tumors, atypical teratoid/rhabdoid tumors, cancer surveillance, genetic test, cancer risk, cancer predisposition syndromes, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.586288/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/a72220bec5c8415c81154262875ef854