2023
Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease
Zhuang J, Aierken A, Yalikun D, Zhang J, Wang X, Ren Y, Tian X, Jiang H. Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease. Frontiers In Medicine 2023, 10: 1268307. PMID: 37901409, PMCID: PMC10600478, DOI: 10.3389/fmed.2023.1268307.Peer-Reviewed Case Reports and Technical NotesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney diseasePolycystic kidney diseaseWhole-exome sequencingNovel mutation sitesDisease progressionNovel PKD1 mutationChronic kidney diseaseRapid disease progressionGene mutationsGenotype-phenotype characteristicsPeripheral blood DNAPersonalized therapeutic strategiesAge of onsetMilder disease phenotypeCommon genetic disorderAutosomal dominant inheritancePolycystic liverADPKD patientsChinese patientsClinical dataTherapeutic strategiesClinical phenotypeEarly onset
1995
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.
Günel M, Awad IA, Anson J, Lifton RP. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proceedings Of The National Academy Of Sciences Of The United States Of America 1995, 92: 6620-6624. PMID: 7604043, PMCID: PMC41570, DOI: 10.1073/pnas.92.14.6620.Peer-Reviewed Original ResearchMeSH KeywordsBrainChromosome MappingChromosomes, Human, Pair 7DNAFemaleGenes, DominantGenetic LinkageGenetic MarkersGenome, HumanHemangioma, CavernousHumansMagnetic Resonance ImagingMaleMolecular Sequence DataPedigreePolymerase Chain ReactionPolymorphism, GeneticRecombination, GeneticRepetitive Sequences, Nucleic AcidConceptsCerebral cavernous malformationsCavernous malformationsAutosomal dominant inheritanceHemorrhagic strokeClinical presentationUnknown cause
1982
The effects of requisite assumptions on linkage analyses of manic-depressive illness with HLA.
Kruger S, Turner W, Kidd K. The effects of requisite assumptions on linkage analyses of manic-depressive illness with HLA. Biological Psychiatry 1982, 17: 1081-99. PMID: 6959652.Peer-Reviewed Original Research
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