Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 3
Results: 33
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 507, doi. 10.1093/hmg/7.3.507
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- Article
Rodent Y chromosome TSPY gene is functional in rat and non-functional in mouse.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 557, doi. 10.1093/hmg/7.3.557
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- Article
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 407, doi. 10.1093/hmg/7.3.407
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- Article
Isoleucylation properties of native human mitochondrial tRNA[sup Ile] and tRNA[sup Ile] transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNA[sup Ile] gene.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 347, doi. 10.1093/hmg/7.3.347
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Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 501, doi. 10.1093/hmg/7.3.501
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A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 415, doi. 10.1093/hmg/7.3.415
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Imprinting of mouse Kvlqt1 is developmentally regulated.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 483, doi. 10.1093/hmg/7.3.483
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Genetic and physical mapping of the McKusick-Kaufman syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 475, doi. 10.1093/hmg/7.3.475
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- Article
Defects in neurofibromatosis 2 protein function can arise at multiple levels.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 335, doi. 10.1093/hmg/7.3.335
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Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 465
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Spinobulbar muscular atrophy: polyglutamine-expanded androgen receptor is proteolytically resistant in vitro and processed abnormally in transfected cells.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 379, doi. 10.1093/hmg/7.3.379
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- Article
Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 563, doi. 10.1093/hmg/7.3.563
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- Article
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 325, doi. 10.1093/hmg/7.3.325
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- Article
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 355, doi. 10.1093/hmg/7.3.355
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- Article
Huntingtin interacts with cystathionine β-synthase.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 371, doi. 10.1093/hmg/7.3.371
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Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 525, doi. 10.1093/hmg/7.3.525
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- Article
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 471, doi. 10.1093/hmg/7.3.471
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- Article
Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 541, doi. 10.1093/hmg/7.3.541
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- Article
A G→A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 393, doi. 10.1093/hmg/7.3.393
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The origin and loss of the ubiquitin activating enzyme gene on the mammalian Y chromosome.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 429, doi. 10.1093/hmg/7.3.429
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The Δ ccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 399, doi. 10.1093/hmg/7.3.399
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Evidence for an X-linked genetic component in familial typical migraine.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 459, doi. 10.1093/hmg/7.3.459
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A genetic polymorphism of the peroxisome proliferator-activated receptor γ gene influences plasma leptin levels in obese humans.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 435, doi. 10.1093/hmg/7.3.435
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The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 489, doi. 10.1093/hmg/7.3.489
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A full genome screen for autism with evidence for linkage to a region on chromosome 7q.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 571, doi. 10.1093/hmg/7.3.571
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Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 549, doi. 10.1093/hmg/7.3.549
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Tissue-specific in vivo transcription start sites of the human and murine cystic fibrosis genes.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 363, doi. 10.1093/hmg/7.3.363
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Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 449, doi. 10.1093/hmg/7.3.449
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Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 385, doi. 10.1093/hmg/7.3.385
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Expression of the murine homologue of FMR2 in mouse brain and during development.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 441, doi. 10.1093/hmg/7.3.441
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Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene ( IDDM6 ).
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 517, doi. 10.1093/hmg/7.3.517
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A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 423, doi. 10.1093/hmg/7.3.423
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A new polymorphism in the APOE promoter associated with risk of developing Alzheimer's Disease.
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- Human Molecular Genetics, 1998, v. 7, n. 3, p. 533, doi. 10.1093/hmg/7.3.533
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- Article