| Item Type | Name |
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Academic Article
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Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
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Academic Article
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Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
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Academic Article
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Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
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Academic Article
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Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
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Academic Article
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Detection of tandem duplications and implications for linkage analysis.
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Academic Article
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Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
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Academic Article
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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
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Academic Article
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
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Academic Article
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Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
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Academic Article
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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
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Academic Article
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
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Academic Article
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Molecular characterization of a patient with del(1)(q23-q25).
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Academic Article
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Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
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Academic Article
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Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
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Academic Article
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Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
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Academic Article
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Genome structural variation and sporadic disease traits.
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Academic Article
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Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
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Academic Article
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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
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Academic Article
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A clinical and molecular study of mosaicism for trisomy 17.
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Academic Article
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
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Academic Article
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A novel locus for Leber congenital amaurosis on chromosome 14q24.
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Academic Article
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Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
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Concept
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Genetic Markers
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Academic Article
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Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis.
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Academic Article
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Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.
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Academic Article
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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
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Academic Article
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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
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Academic Article
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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
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Academic Article
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
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