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PubMed 10216143 Inherited HFE-unrelated hemochromatosis in Italian families. Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene. A minority of iron loaded patients have 984 Bytes 2015-11-15 13 9
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PubMed 10218629 Tau pathology in a family with dementia and a P301L mutation in tau. Familial forms of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) have recently been associated with cod 1.72 KB 2015-11-15 8 5
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PubMed 10218700 Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. PURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene pr 947 Bytes 2015-11-15 9 5
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PubMed 10219785 A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) We investigated three separate families (designated D, F and G) with f 1.68 KB 2015-11-15 5 5
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PubMed 10220146 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Genetic diagnos 1.84 KB 2015-11-15 6 3
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PubMed 10220154 Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. 1.13 KB 2015-11-15 6 54
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PubMed 10220735 Hereditary haemochromatosis: diagnosis and management in the gene era. Hereditary haemochromatosis is a common inherited disorder of iron metabolism in Caucasian populations. Two mutations in the HFE 1.36 KB 2015-11-15 4 8
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PubMed 10221692 Androgen receptor gene mutations in 46,XY females with germ cell tumours. We present clinical findings and molecular characterization in two patients previously diagnosed as 46,XY female gonadal dysge 1.59 KB 2015-11-15 5 20
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PubMed 10222249 The Gln27Glu beta2-adrenergic receptor variant is associated with obesity due to subcutaneous fat accumulation in Japanese men. The Trp64Arg beta3-adrenergic receptor (AR) variant is associated with v 1.14 KB 2015-11-15 6 3
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PubMed 10224214 Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal recessive 2.45 KB 2015-11-15 6 24
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