Thomas Jefferson University

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Hobson, Grace
One or more keywords matched the following items that are connected to Hobson, Grace
Item TypeName
Concept Chromosome Deletion
Concept Chromosome Mapping
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 5
Concept Chromosome Inversion
Concept Chromosome Breakage
Concept X Chromosome Inactivation
Concept Chromosome Breakpoints
Academic Article Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23.
Academic Article Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Academic Article Further evidence for a fourth gene causing X-linked pure spastic paraplegia.
Academic Article Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies.
Academic Article A PLP splicing abnormality is associated with an unusual presentation of PMD.
Academic Article A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).
Academic Article Identification of cis-acting regulatory elements in the promoter region of the rat brain creatine kinase gene.
Academic Article Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Academic Article Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Academic Article Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
Academic Article Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Grant Molecular genetics of Pelizaeus-Merzbacher disease
Search Criteria
  • Chromosomes Human Pair 8