E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis

gan Venuto, Santina, Merla, Giuseppe
Cyhoeddwyd yn Cells (2019)

Rise of TRIM8: A Molecule of Duality

gan Bhaduri, Utsa, Merla, Giuseppe
Cyhoeddwyd yn Mol Ther Nucleic Acids (2020)

Ubiquitination, Biotech Startups, and the Future of TRIM Family Proteins: A TRIM-Endous Opportunity

gan Bhaduri, Utsa, Merla, Giuseppe
Cyhoeddwyd yn Cells (2021)

The Emerging Role of Gβ Subunits in Human Genetic Diseases

gan Malerba, Natascia, De Nittis, Pasquelena, Merla, Giuseppe
Cyhoeddwyd yn Cells (2019)

DNA damage response defect in Williams-Beuren syndrome

gan Guenat, David, Merla, Giuseppe, Deconinck, Eric, Borg, Christophe, Rohrlich, Pierre-Simon
Cyhoeddwyd yn Int J Mol Med (2017)

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

gan Malerba, Natascia, Towner, Shelley, Keating, Katherine, Squeo, Gabriella Maria, Wilson, William, Merla, Giuseppe
Cyhoeddwyd yn Front Genet (2018)

Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome

gan Henrichsen, Charlotte N., Csárdi, Gábor, Zabot, Marie-Thérèse, Fusco, Carmela, Bergmann, Sven, Merla, Giuseppe, Reymond, Alexandre
Cyhoeddwyd 2011

Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

gan Micale, Lucia, Fusco, Carmela, Augello, Bartolomeo, Napolitano, Luisa MR, Dermitzakis, Emmanouil T, Meroni, Germana, Merla, Giuseppe, Reymond, Alexandre
Cyhoeddwyd 2008

MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis

gan Danza, Katia, Summa, Simona De, Pinto, Rosamaria, Pilato, Brunella, Palumbo, Orazio, Merla, Giuseppe, Simone, Gianni, Tommasi, Stefania
Cyhoeddwyd yn Oncotarget (2014)

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

gan Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella
Cyhoeddwyd yn Genes (Basel) (2020)

Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

gan Merla, Giuseppe, Howald, Cédric, Henrichsen, Charlotte N., Lyle, Robert, Wyss, Carine, Zabot, Marie-Thérèse, Antonarakis, Stylianos E., Reymond, Alexandre
Cyhoeddwyd 2006

VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

gan Micale, Lucia, Muscarella, Lucia Anna, Marzulli, Marco, Augello, Bartolomeo, Tritto, Patrizia, D'Agruma, Leonardo, Zelante, Leopoldo, Palumbo, Gioacchino, Merla, Giuseppe
Cyhoeddwyd 2009

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

gan Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela
Cyhoeddwyd 2014

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

gan Prontera, Paolo, Rogaia, Daniela, Mencarelli, Amedea, Ottaviani, Valentina, Sallicandro, Ester, Guercini, Giorgio, Esposito, Susanna, Bersano, Anna, Merla, Giuseppe, Stangoni, Gabriela
Cyhoeddwyd yn Int J Mol Sci (2017)

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

gan Fusco, Carmela, Nittis, Pasquelena De, Alfaiz, Ali Abdullah, Pellico, Maria Teresa, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe
Cyhoeddwyd yn J Pediatr Genet (2016)

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

gan Ferrero, Giovanni Battista, Howald, Cédric, Micale, Lucia, Biamino, Elisa, Augello, Bartolomeo, Fusco, Carmela, Turturo, Maria Giuseppina, Forzano, Serena, Reymond, Alexandre, Merla, Giuseppe
Cyhoeddwyd 2010

A Fish-Specific Transposable Element Shapes the Repertoire of p53 Target Genes in Zebrafish

gan Micale, Lucia, Loviglio, Maria Nicla, Manzoni, Marta, Fusco, Carmela, Augello, Bartolomeo, Migliavacca, Eugenia, Cotugno, Grazia, Monti, Eugenio, Borsani, Giuseppe, Reymond, Alexandre, Merla, Giuseppe
Cyhoeddwyd 2012

Identification of tumor-associated cassette exons in human cancer through EST-based computational prediction and experimental validation

gan Valletti Alessio, Anselmo Anna, Mangiulli Marina, Boria Ilenia, Mignone Flavio, Merla Giuseppe, D'Angelo Vincenzo, Tullo Apollonia, Sbisà Elisabetta, D'Erchia Anna, Pesole Graziano
Cyhoeddwyd 2010-09-01

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

gan Prontera, Paolo, Rogaia, Daniela, Sallicandro, Ester, Mencarelli, Amedea, Imperatore, Valentina, Squeo, Gabriella Maria, Merla, Giuseppe, Elisei, Sandro, Moretti-Ferreira, Danilo, Esposito, Susanna, Stangoni, Gabriela
Cyhoeddwyd yn Eur J Hum Genet (2019)

GRB10 Gene and Type 2 Diabetes in Whites

gan Di Paola, Rosa, Wojcik, Joanna, Succurro, Elena, Marucci, Antonella, Chandalia, Manisha, Padovano, Libera, Powers, Christine, Merla, Giuseppe, Abate, Nicola, Sesti, Giorgio, Doria, Alessandro, Trischitta, Vincenzo
Cyhoeddwyd 2009