Semantic Scholar uses AI to extract papers important to this topic.
We report the first large genome-wide association study (GWAS) in a Chinese population to identify susceptibility variants for… Expand Using fluorescence in situ hybridization we investigated amplification of chromosome band 1q21 (Amp1q21) in more than 500… Expand A specific role for increased level of expression of CKS1B, as a consequence of chromosome 1q21 copy number gain, has been… Expand Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM 247100) is a rare, autosomal… Expand Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation… Expand Patients with Dunnigan-type familial partial lipodystrophy (FPLD) are born with normal fat distribution, but after puberty… Expand Chromosome 1 reveals in region 1q21 a most remarkable density of genes that fulfill important functions in terminal… Expand Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature, maps to… Expand S100 proteins are low-molecular-weight calcium-binding proteins of the EF-hand superfamily and appear to be involved in the… Expand UNUSUAL TYPE OF BENIGN X LINKED MUSCULAR DYSTROPHY4
Authors : Emery AEH, Dreifuss FE
Year published : 1966
Alan E H Emery from… Expand