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Deletions involving chromosome 1p are frequent events in multiple myeloma (MM). As karyotyping and single nucleotide polymorphism… Expand Summary: Purpose: Three forms of idiopathic partial epilepsy with autosomal dominant inheritance have been described: (a… Expand Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells… Expand Venous malformations (VMs) are localized defects of vascular morphogenesis. They can occur in every organ system, most commonly… Expand Autosomal recessive retinitis pigmentosa (arRP) is characterized by considerable allelic and nonallelic heterogeneity. Mutations… Expand Albers-Schönberg disease, the classical form of osteopetrosis, is an autosomal dominant condition with generalized increased… Expand The t(14;18)(q32;q21) chromosomal translocation is observed in more than 75% of cases of follicular lymphoma. Several additional… Expand Glycogen debranching enzyme is a monomeric protein containing two independent catalytic activities of glycantransferase and… Expand Two human myeloma cell lines, KMS‐12‐PE and KMS‐12‐BM, were established from a 64‐year‐old woman with a non‐producing type of… Expand The method of in situ hybridization has become a significant technique for specific-site chromosome mapping. We show that the… Expand