Associated Papers
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
Genetic variants in the exon region of versican predict survival of patients with resected early-stage hepatitis B virus-associated hepatocellular carcinoma.
Liu X et al.
Cancer Management and Research, 2018
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA
A family with Wagner syndrome with uveitis and a new versican mutation.
Rothschild PR et al.
Molecular Vision, 2013
Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence susceptibility to intestinal-type gastric cancer.
Ju H et al.
Journal of Cancer Research and Clinical Oncology, 2010
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.
Ronan SM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2009
Association between polymorphisms of DNA repair genes and intracranial aneurysms: A systematic review and meta‑analysis.
Montasr MM et al.
Medicine International, 0
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