Author pages are created from data sourced from our academic publisher partnerships and public sources.
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons producing hypothalamic… Expand
Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
LISSENCEPHALY (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration1,2. Identification of the gene(s) involved in this disorder… Expand
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Lissencephaly (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration. Identification of the gene(s) involved in this disorder would… Expand
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we… Expand
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor
Proteins of the Myc and Mad family are involved in transcriptional regulation and mediate cell differentiation and proliferation. These molecules share a basic‐helix–loop–helix leucine zipper domain… Expand
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a… Expand
Identification of novel RP2 mutations in a subset of X‐linked retinitis pigmentosa families and prediction of new domains
X‐linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2,… Expand
Mutation analysis in 16 patients with mtDNA depletion
Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in the TK2 and DGUOK genes. Three novel mutations were identified in TK2… Expand
Human piebaldism: six novel mutations of the proto‐oncogene KIT
Human piebaldism is a rare autosomal dominant disorder that comprises congenital patchy depigmentation of the scalp, forehead, trunk and limbs. It is caused by mutations in the cell‐surface receptor… Expand
Reciprocal translocations: a trap for cytogenetists?
We report four cases of subjects with phenotypic abnormalities and mental retardation associated with apparently balanced translocations, two inherited and two de novo, which showed, by molecular… Expand