Works matching IS 03406717 AND DT 2002 AND VI 110 AND IP 5
Results: 19
An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome.
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- Human Genetics, 2002, v. 110, n. 5, p. 515, doi. 10.1007/s00439-002-0716-4
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- Article
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
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- Human Genetics, 2002, v. 110, n. 5, p. 513, doi. 10.1007/s00439-002-0711-9
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- Article
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?
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- Human Genetics, 2002, v. 110, n. 5, p. 479, doi. 10.1007/s00439-002-0708-4
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- Article
Identification of additional transcripts in the Williams-Beuren syndrome critical region.
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- Human Genetics, 2002, v. 110, n. 5, p. 429, doi. 10.1007/s00439-002-0710-x
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Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.
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- Human Genetics, 2002, v. 110, n. 5, p. 510, doi. 10.1007/s00439-002-0707-5
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- Article
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
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- Human Genetics, 2002, v. 110, n. 5, p. 422, doi. 10.1007/s00439-002-0709-3
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- Article
Transmission disequilibrium test with discordant sib pairs when parents are available.
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- Human Genetics, 2002, v. 110, n. 5, p. 451, doi. 10.1007/s00439-002-0675-9
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- Article
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat.
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- Human Genetics, 2002, v. 110, n. 5, p. 412, doi. 10.1007/s00439-002-0715-5
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Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools.
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- Human Genetics, 2002, v. 110, n. 5, p. 471, doi. 10.1007/s00439-002-0706-6
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- Article
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
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- Human Genetics, 2002, v. 110, n. 5, p. 389, doi. 10.1007/s00439-002-0719-1
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RT-PCR splicing analysis of the NF1 open reading frame.
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- Human Genetics, 2002, v. 110, n. 5, p. 495, doi. 10.1007/s00439-002-0714-6
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A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
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- Human Genetics, 2002, v. 110, n. 5, p. 488, doi. 10.1007/s00439-002-0712-8
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Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.
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- Human Genetics, 2002, v. 110, n. 5, p. 462, doi. 10.1007/s00439-002-0705-7
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- Article
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22<sup>0</sup>) leading to the activation of a cryptic splice site in intron 4.
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- Human Genetics, 2002, v. 110, n. 5, p. 444, doi. 10.1007/s00439-002-0720-8
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- Article
FISH-mapping of a 100-kb terminal 22q13 deletion.
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- Human Genetics, 2002, v. 110, n. 5, p. 439, doi. 10.1007/s00439-002-0713-7
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Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight.
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- Human Genetics, 2002, v. 110, n. 5, p. 503, doi. 10.1007/s00439-002-0718-2
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Analysis of 22 deletion breakpoints in dystrophin intron 49.
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- Human Genetics, 2002, v. 110, n. 5, p. 418, doi. 10.1007/s00439-002-0721-7
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- Article
Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA.
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- Human Genetics, 2002, v. 110, n. 5, p. 402, doi. 10.1007/s00439-002-0717-3
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Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing.
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- Human Genetics, 2002, v. 110, n. 5, p. 395, doi. 10.1007/s00439-002-0722-6
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- Article