Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 4
Results: 15
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200417
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- Article
Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 259, doi. 10.1038/sj.ejhg.5200423
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- Article
Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200437
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A gene for ataxic cerebral palsy maps to chromosome 9p12–q12.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 267, doi. 10.1038/sj.ejhg.5200445
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- Article
Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 307, doi. 10.1038/sj.ejhg.5200446
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- Article
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 286
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- Article
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 311, doi. 10.1038/sj.ejhg.5200448
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- Article
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 293, doi. 10.1038/sj.ejhg.5200450
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Reproductive and menstrual history of females with fragile X expansions.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 247, doi. 10.1038/sj.ejhg.5200451
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- Article
RNA-based mutation screening in German families with Sjögren-Larsson syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 299, doi. 10.1038/sj.ejhg.5200453
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Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 239, doi. 10.1038/sj.ejhg.5200454
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- Article
Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200455
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- Article
Phenotype in patients with Angelman syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 241, doi. 10.1038/sj.ejhg.5200456
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Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3v EGF-like repeat domains.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 280, doi. 10.1038/sj.ejhg.5200460
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- Article
Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 242, doi. 10.1038/sj.ejhg.5200462
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- Article