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Biomolecules|May 4, 2026
Evidence for FOXL2 Association with the Tsc1 Regulatory Region in MiceMara Marongiu, Loredana Marcia, Andrea Sbardellati, et al.Metabolism: Clinical and Experimental|September 10, 2015
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophiesFrederic Reinier, Magdalena Zoledziewska, David Hanna, et al.BMC Cancer|July 22, 2009
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian populationGrazia Palomba, Angela Loi, Antonella Uras, et al.Human Molecular Genetics|May 8, 2009
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemiaSerena Sanna, Fabio Busonero, Andrea Maschio, et al.American Journal of Human Genetics|April 17, 2007
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, et al.BMC Medical Genetics|January 16, 2019
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case reportRita Maria Alves, Paolo Uva, Marielza F Veiga, et al.Clinical Genetics|March 13, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnosesAndrea Angius, Paolo Uva, Manuela Oppo, et al.Plos Genetics|November 14, 2007
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohortsSiguang Li, Serena Sanna, Andrea Maschio, et al.American Journal of Human Genetics|July 9, 2016
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaAndrea Angius, Paolo Uva, Insa Buers, et al.BMC Cancer|May 10, 2015
Genome-wide association study of susceptibility loci for breast cancer in Sardinian populationGrazia Palomba, Angela Loi, Eleonora Porcu, et al.Pageof 7