Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 8
Results: 36
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1463
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Friedreich's ataxia: a defect in signal transduction?
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1411
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Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1403
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Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1465
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An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1459
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Myotonia levior is a chloride channel disorder.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1397
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Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1391
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Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1387
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Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1453
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A gene for Leber's congenital amaurosis maps to chromosome 17p.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1447
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Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1441
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Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1435
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A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1429
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Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA gene.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1421
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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1381
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Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1373
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Expression of the Huntington's disease (IT15) protein product in HD patients.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1365
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Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1355
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A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1347
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A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1337
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A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1331
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Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327
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Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1321
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A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1313
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Localization of 102 exons to a 2.5 Mb region involved in Down syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1305
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Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1291
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A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1285
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Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1273
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On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1267
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Comparison of the positional cloning methods used to isolate the BRCA1 gene.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1259
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Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1467
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Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1245
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An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1474
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Author index.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1473
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A de novo frame-shift mutation in the tuberin gene.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1471
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Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1251
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