1. A new case series of Crisponi syndrome in a Turkish family and review of the literature. Issue 2 (April 2017) Authors: Bayraktar-Tanyeri, Bilge; Hepokur, Mervenur; Bayraktar, Suleyman; Persico, Ivana; Crisponi, Laura Journal: Clinical dysmorphology Issue: Volume 26:Issue 2(2017:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP. Issue 4 (8th February 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Issue 1 (16th September 2019) Authors: Buers, Insa; Persico, Ivana; Schöning, Lara; Nitschke, Yvonne; Di Rocco, Maja; Loi, Angela; Sahi, Puneet Kaur; Utine, Gulen Eda; Bayraktar‐Tanyeri, Bilge; Zampino, Giuseppe; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura Journal: Clinical genetics Issue: Volume 97:Issue 1(2020) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc... Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Issue 4 (6th March 2014) Authors: Piras, Roberta; Chiappe, Francesca; Torraca, Ilaria La; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel‐Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold‐Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Çiğdem Seher; Kılıç, E... Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetics of serum BDNF: Meta-analysis of the Val66Met and genome-wide association study. (December 2013) Authors: Terracciano, Antonio; Piras, Maria Grazia; Lobina, Monia; Mulas, Antonella; Meirelles, Osorio; Sutin, Angelina R.; Chan, Wayne; Sanna, Serena; Uda, Manuela; Crisponi, Laura; Schlessinger, David Journal: World journal of biological psychiatry Issue: Volume 14:Number 8(2013) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair. Issue 12 (December 2015) Authors: Day, Felix R.; Ruth, Katherine S.; Thompson, Deborah J.; Lunetta, Kathryn L.; Pervjakova, Natalia; Chasman, Daniel I.; Stolk, Lisette; Finucane, Hilary K.; Sulem, Patrick; Bulik-Sullivan, Brendan; Esko, Tõnu; Johnson, Andrew D.; Elks, Cathy E.; Franceschini, Nora; He, Chunyan; Altmaier, Elisabeth... Journal: Obstetrical & gynecological survey Issue: Volume 70:Issue 12(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗