1. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. (2nd November 2017) Authors: Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara, Milena; Seri, Marco; Rossi, Cesare Journal: Ophthalmic genetics Issue: Volume 38:Number 6(2017) Page Start: 590 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. Issue 10 (7th August 2019) Authors: Diquigiovanni, Chiara; Bergamini, Christian; Diaz, Rebeca; Liparulo, Irene; Bianco, Francesca; Masin, Luca; Baldassarro, Vito Antonio; Rizzardi, Nicola; Tranchina, Antonia; Buscherini, Francesco; Wischmeijer, Anita; Pippucci, Tommaso; Scarano, Emanuela; Cordelli, Duccio Maria; Fato, Romana; Seri,... Journal: FASEB journal Issue: Volume 33:Issue 10(2019) Page Start: 11284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene. Issue 7 (30th April 2020) Authors: Mariucci, Elisabetta; Spinardi, Luca; Stagni, Silvia; Graziano, Claudio; Lovato, Luigi; Pacini, Davide; Di Marco, Luca; Careddu, Lucio; Angeli, Emanuela; Ciuca, Cristina; Wischmeijer, Anita; Gargiulo, Gaetano; Donti, Andrea Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1673 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnostic Accuracy of Aortic Root Cross‐sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys‐Dietz Syndrome. (11th November 2015) Authors: Mariucci, Elisabetta; Donti, Andrea; Guidarini, Marta; Oppido, Guido; Angeli, Emanuela; Lovato, Luigi; Wischmeijer, Anita; Finlay, Malcolm; Gargiulo, Gaetano D.; Picchio, Fernando M.; Bonvicini, Marco Journal: Congenital heart disease Issue: Volume 11:Number 3(2016) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. EEC‐ and ADULT‐Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences. Issue 6 (2nd April 2013) Authors: Monti, Paola; Russo, Debora; Bocciardi, Renata; Foggetti, Giorgia; Menichini, Paola; Divizia, Maria T.; Lerone, Margherita; Graziano, Claudio; Wischmeijer, Anita; Viadiu, Hector; Ravazzolo, Roberto; Inga, Alberto; Fronza, Gilberto Journal: Human mutation Issue: Volume 34:Issue 6(2013:Jun.) Page Start: 894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype123. Issue 2 (15th January 2013) Authors: Cordelli, Duccio Maria; Garavelli, Livia; Savasta, Salvatore; Guerra, Azzurra; Pellicciari, Alessandro; Giordano, Lucio; Bonetti, Silvia; Cecconi, Ilaria; Wischmeijer, Anita; Seri, Marco; Rosato, Simonetta; Gelmini, Chiara; Della Giustina, Elvio; Ferrari, Anna Rita; Zanotta, Nicoletta; Epifanio, ... Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Issue 7 (21st May 2013) Authors: Garavelli, Livia; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Albertini, Enrico; Guareschi, Elisa; Longo, Caterina; Albertini, Giuseppe; Gelmini, Chiara; Greco, Chiara; Errico, Stefania; Savino, Gustavo; Pavanello, Marco; Happle, Rudolf; Unger, Sheila; Superti‐Furga, Andrea; Grzesc... Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. Issue 2 (4th November 2015) Authors: Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina Journal: Human mutation Issue: Volume 37:Issue 2(2016) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. Issue 4 (23rd January 2014) Authors: Gargano, Giancarlo; Guidotti, Isotta; Balestri, Eleonora; Vagnarelli, Federica; Rosato, Simonetta; Comitini, Giuseppina; Wischmeijer, Anita; La Sala, Giovanni Battista; Iughetti, Lorenzo; Cordeddu, Viviana; Rossi, Cesare; Tartaglia, Marco; Garavelli, Livia Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 1015 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci. Issue 11 (7th October 2013) Authors: Garavelli, Livia; Piemontese, Maria Rosaria; Cavazza, Alberto; Rosato, Simonetta; Wischmeijer, Anita; Gelmini, Chiara; Albertini, Enrico; Albertini, Giuseppe; Forzano, Francesca; Franchi, Fabrizia; Carella, Massimo; Zelante, Leopoldo; Superti‐Furga, Andrea Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗