Associated Papers
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel
Restrictive dermopathy due to ZMPSTE24 deficiency.
Ververi A et al.
Clinical Dysmorphology, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Wang L et al.
Molecular Genetics & Genomic Medicine, 2021
Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.
Scott JB et al.
Pediatric Dermatology, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.
Alarcón PI et al.
American Journal of Medical Genetics. Part A, 2019
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.
Janin A et al.
Orphanet Journal of Rare Diseases, 2017
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL et al.
European Journal of Human Genetics : Ejhg, 2014
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