Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
We delineated a syndromic recessive preaxial brachydactyly with partial duplication of
proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 …
proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 …
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
SW Tompson, CA Bacino, NP Safina, MB Bober… - The American Journal of …, 2010 - cell.com
Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a
single case of fibrochondrogenesis, whole-genome SNP genotyping identified unknown …
single case of fibrochondrogenesis, whole-genome SNP genotyping identified unknown …
Altered gene synchrony suggests a combined hormone-mediated dysregulated state in major depression
Coordinated gene transcript levels across tissues (denoted “gene synchrony”) reflect
converging influences of genetic, biochemical and environmental factors; hence they are …
converging influences of genetic, biochemical and environmental factors; hence they are …
[PDF][PDF] Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, 2 Brian O'Connor, 2 Barry Merriman, 2 Stanley F. Nelson, 2 Simon Cool, Osama H. Ababneh, 3 Azmy Al …
H Hamamy, B Reversade - The American Journal of Human …, 2010 - academia.edu
We delineated a syndromic recessive preaxial brachydactyly with partial duplication of
proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 …
proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 …