Publications by authors named "Angela Loi"

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Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Insa Buers, Ivana Persico, Lara Schöning, Yvonne Nitschke, Maja Di Rocco, Angela Loi

Clin Genet· January 2020

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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Angela Loi

Am J Hum Genet· April 2018

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Novel action of FOXL2 as mediator of Col1a2 gene autoregulation.
Mara Marongiu, Manila Deiana, Loredana Marcia, Andrea Sbardellati, Isadora Asunis, Angela Loi

Dev Biol· August 2016

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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Angela Loi

Am J Hum Genet· July 2016

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FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice.
Mara Marongiu, Loredana Marcia, Emanuele Pelosi, Mario Lovicu, Manila Deiana, Angela Loi

BMC Dev Biol· July 2015

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Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
Grazia Palomba, Angela Loi, Eleonora Porcu, Antonio Cossu, Ilenia Zara

BMC Cancer· May 2015

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A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.
Grazia Palomba, Angela Loi, Antonella Uras, Patrizia Fancello, Giovanna Piras

BMC Cancer· July 2009

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Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
Lisette Arnaud-Lopez, Gianluca Usala, Graziano Ceresini, Braxton D Mitchell, Maria Grazia Pilia, Angela Loi

Am J Hum Genet· June 2008

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FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
Laura Crisponi, Manuela Uda, Manila Deiana, Angela Loi, Ramaiah Nagaraja

Genomics· May 2004

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