LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome

Authors: Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi

Source: npj Genomic Medicine, Vol 10, Iss 1, Pp 1-9 (2025)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/598511c3e47042db9f23b05823f04bab

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center

Authors: Ferruccio Romano, Patrizia De Marco, Giulia Amico, Marisa Mallamaci, Marco Pavanello, Gianluca Piatelli, Marcello Scala, Federico Zara, Francesca Faravelli, Mariasavina Severino, Domenico Tortora, Francesco Pasetti, Lucio Castellan, Silvia Buratti, Valeria Capra

Source: Frontiers in Genetics, Vol 16 (2025)

Subject Terms: vein of Galen aneurysmal malformation, arteriovenous shunt, differential diagnosis, next-generation sequencing, genotype–phenotype correlation, vascular remodeling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2025.1430657/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/b8f858f5aca14a6397627591deb5a2f8

The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme

Authors: Frances Elmslie, Anna Kim, Kevin J Monahan, Francesca Faravelli, Fiona Lalloo, David N Church, Jackie Cook, Tracie Miles, Neil Ryan, Steven A Hardy, Sally Lane, Alaa Elghobashy, Laura Monje-Garcia, Adam C Shaw, Simone Gelinas, Adele Tyson, Ruth Armstrong, Frank D McDermott, Valerie Ya Wen Wang

Source: BMJ Oncology, Vol 2, Iss 1 (2023)

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

File Description: electronic resource

Relation: https://bmjoncology.bmj.com/content/2/1/e000124.full; https://doaj.org/toc/2752-7948

Access URL: https://doaj.org/article/358da55ca3114dd4a47d74308a5c3a0d

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

Authors: Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza

Source: Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1533-1540 (2019)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/7aa5233fd46146998c984e96445517f0

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Authors: Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni

Source: Frontiers in Genetics, Vol 9 (2018)

Subject Terms: FMRP, FMR1 mRNA, CGG expansion, fragile X syndrome, mosaicism, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00442/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/41b5c010e4e84727a7ef3cf87a440b65

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Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti.

Authors: Francesca, Fusco, Mariateresa, Paciolla, Alessandra, Pescatore, Brigida, Lioi Maria, Carmen, Ayuso, Francesca, Faravelli, Mattia, Gentile, Marcella, Zollino, Michele, D'Urso, Giuseppina, Miano Maria, Valeria, Ursini Matilde

Source: Human Mutation; Sep2009, Vol. 30 Issue 9, p1284-1291, 8p

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