1. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. Issue 7 (19th March 2019) Authors: Lopez-Perolio, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz-Rubio, Eduardo; Caldés, Trinidad; H... Journal: Journal of medical genetics Issue: Volume 56:Issue 7(2019) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Issue 1 (17th October 2016) Authors: Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurélie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, ... Journal: Human mutation Issue: Volume 38:Issue 1(2017) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and microbiological characteristics associated with mortality in spontaneous bacterial peritonitis: a multicenter cohort study. Issue 10 (October 2016) Authors: Oliveira, Ana M.; Branco, Joana C.; Barosa, Rita; Rodrigues, José A.; Ramos, Lídia; Martins, Alexandra; Karvellas, Constantine J.; Cardoso, Filipe S. Journal: European journal of gastroenterology & hepatology Issue: Volume 28:Issue 10(2016:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants. Issue 4 (16th May 2017) Authors: Gaildrat, Pascaline; Lebbah, Said; Tebani, Abdellah; Sudrié‐Arnaud, Bénédicte; Tostivint, Isabelle; Bollee, Guillaume; Tubeuf, Hélène; Charles, Thomas; Bertholet‐Thomas, Aurelia; Goldenberg, Alice; Barbey, Frederic; Martins, Alexandra; Saugier‐Veber, Pascale; Frébourg, Thierry; Knebelmann, Bertra... Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 4(2017) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements. Issue 11 (18th September 2013) Authors: Di Giacomo, Daniela; Gaildrat, Pascaline; Abuli, Anna; Abdat, Julie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements. Issue 11 (18th September 2013) Authors: Di Giacomo, Daniela; Gaildrat, Pascaline; Abuli, Anna; Abdat, Julie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism. Issue 4 (28th January 2021) Authors: Saint‐Martin, Cécile; Cauchois‐Le Mière, Marine; Rex, Emily; Soukarieh, Omar; Arnoux, Jean‐Baptiste; Buratti, Julien; Bouvet, Delphine; Frébourg, Thierry; Gaildrat, Pascaline; Shyng, Show‐Ling; Bellanné‐Chantelot, Christine; Martins, Alexandra Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genital ulcers: do not forget Behçet disease. (21st February 2012) Authors: Maia, Susana; Martins, Alexandra; Santos, Celeste; Alves, François Journal: BMJ case reports Issue: Volume 2012 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Granulomatous Cheilitis Associated With Crohn's Disease. (April 2016) Authors: Oliveira, Ana Maria; Martins, Manuela; Martins, Alexandra; de Deus, João Ramos Journal: American journal of gastroenterology Issue: Volume 111:Number 4(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Indicators for local health plan monitoring and evaluation: A modified Delphi consensus. Issue 4 (21st December 2021) Authors: Santos, João Vasco; Martins, Filipa Santos; Vidal‐Castro, Joana; Silva‐Rocha, Sofia; Areias, Rita; Oliveira, António; Santos, Sandra; Lamelas, Cristina; Amorim, Helena; Martins, Alexandra; Vieira, Mariana; Ramos, João Pedro; Pinto, Marta Journal: Public health nursing Issue: Volume 39:Issue 4(2022) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗