Associated Papers
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C et al.
Journal of Medical Genetics, 2020
Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse.
Li L et al.
Menopause (new York, N.y.), 2020
31663982 (PubMed )
Supplement: menop-27-223-s001.xlsx › Sheet1
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
32528524 (PubMed )
Supplement: Data_Sheet_1.XLSX › variants_in_candidate_genes
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
Symoens S et al.
Human Mutation, 2012
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
Malfait F et al.
Human Mutation, 2005
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
Takahara K et al.
American Journal of Human Genetics, 2002
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1
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