1. Age of onset of cerebral venous thrombosis: the BEAST study. (March 2023) Authors: Ranjan, Redoy; Ken-Dror, Gie; Martinelli, Ida; Grandone, Elvira; Hiltunen, Sini; Lindgren, Erik; Margaglione, Maurizio; Le Cam Duchez, Veronique; Bagan Triquenot, Aude; Zedde, Marialuisa; Mancuso, Michelangelo; Ruigrok, Ynte M; Worrall, Brad; Majersik, Jennifer J; Putaala, Jukka; Haapaniemi, Elen... Journal: European stroke journal Issue: Volume 8:Number 1(2023) Page Start: 344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy). Issue 10 (12th July 2021) Authors: Locatelli, Martina; Grassi, Mario; Saba, Valentina; Iacovello, Licia; di Castelnuovo, Augusto; de Gaetano, Giovanni; Zedde, Marialuisa; Marcheselli, Simona; silvestrelli, Giorgio; Ciccone, Alfonso; Delodovici, Maria Luisa; Princiotta Cariddi, Lucia; giossi, Alessia; Zini, Andrea; Paciaroni, Mauri... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 92:Issue 10(2021) Page Start: 1068 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy. (17th July 2018) Authors: Costa, Paolo; Grassi, Mario; Iacoviello, Licia; Zedde, Marialuisa; Marcheselli, Simona; Silvestrelli, Giorgio; DeLodovici, Maria Luisa; Sessa, Maria; Zini, Andrea; Paciaroni, Maurizio; Azzini, Cristiano; Gamba, Massimo; Del Sette, Massimo; Toriello, Antonella; Gandolfo, Carlo; Bonifati, Domenico ... Journal: Neurology Issue: Volume 91:Number 3(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. Issue 2 (3rd November 2019) Authors: Ritelli, Marco; Rovati, Chiara; Venturini, Marina; Chiarelli, Nicola; Cinquina, Valeria; Castori, Marco; Colombi, Marina Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Issue 1 (December 2015) Authors: Porter, Louise; Gallego-Pinazo, Roberto; Keeling, Catherine; Kamieniorz, Martyna; Zoppi, Nicoletta; Colombi, Marina; Giunta, Cecilia; Bonshek, Richard; Manson, Forbes; Black, Graeme Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Issue 1 (December 2015) Authors: Porter, Louise; Gallego-Pinazo, Roberto; Keeling, Catherine; Kamieniorz, Martyna; Zoppi, Nicoletta; Colombi, Marina; Giunta, Cecilia; Bonshek, Richard; Manson, Forbes; Black, Graeme Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity. Issue 2 (February 2018) Authors: Dordoni, Chiara; Gatti, Marta; Venturini, Marina; Zanca, Arianna; Cinquina, Valeria; Santoro, Graziano; Battocchio, Simonetta; Calzavara-Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina Journal: Journal of dermatological science Issue: Volume 89:Issue 2(2018) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing. Issue 1 (October 2017) Authors: Ritelli, Marco; Palit, Aparna; Giacopuzzi, Edoardo; Inamadar, Arun C.; Dordoni, Chiara; Mujja, Ajay; Murgude, Meghana S.; Colombi, Marina Journal: Journal of dermatological science Issue: Volume 88:Issue 1(2017:Oct.) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review. Issue 7 (21st May 2019) Authors: Ritelli, Marco; Cammarata‐Scalisi, Francisco; Cinquina, Valeria; Colombi, Marina Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three‐generation family without cardiovascular events, and literature review. Issue 2 (7th November 2016) Authors: Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; Calzavara‐Pinton, Piergiacomo; Ritelli, Marco Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 524 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗