Associated Papers
Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.
Bertucci F et al.
Journal of Translational Medicine, 2024
39465437 (PubMed )
Supplement: 12967_2024_5790_MOESM2_ESM.xlsx › Table_S2
Mutational landscape of inflammatory breast cancer.
Bertucci F et al.
Journal of Translational Medicine, 2024
38637846 (PubMed )
Supplement: 12967_2024_5198_MOESM2_ESM.xlsx › Table_S2
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.
Andersson K et al.
Orphanet Journal of Rare Diseases, 2020
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.
Cayami FK et al.
Molecular Genetics & Genomic Medicine, 2019
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 2019
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.
Guillemyn B et al.
Human Molecular Genetics, 2019
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Keller RB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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