Results 121 to 130 of about 263,691 (312)
Homogeneous Scoring of Single-Nucleotide Polymorphisms: Comparison of the 5′-Nuclease TaqMan ® Assay and Molecular Beacon Probes [PDF]
, 2000 I. Täpp +4 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque +7 more
wiley +1 more source
Suspension arrays for high throughput, multiplexed single nucleotide polymorphism genotyping [PDF]
, 2000 Barbara Armstrong +2 more
openalex +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population [PDF]
, 2000 Dana C. Crawford +15 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +1 more source
A single nucleotide polymorphism in exon 1 of cytotoxic T-lymphocyte-associated-4 (CTLA-4) is not associated with rheumatoid arthritis [PDF]
, 2000 Anne Barton +5 more
openalex +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto +2 more
wiley +1 more source