Works matching IS 00099163 AND DT 1997 AND VI 51 AND IP 4
Results: 18
Detection of an EcoRI restriction fragment length polymorphism in the gene encoding the human TBP associated factor II 30 (TAF.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 288, doi. 10.1111/j.1399-0004.1997.tb02474.x
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Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 219, doi. 10.1111/j.1399-0004.1997.tb02458.x
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Reciprocal translocation 4; 11 with both adjacent-1 segregants viable within a family.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 250, doi. 10.1111/j.1399-0004.1997.tb02464.x
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Terminal 2q deletion-a recognizable syndrome.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 290, doi. 10.1111/j.1399-0004.1997.tb02475.x
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Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 225, doi. 10.1111/j.1399-0004.1997.tb02459.x
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- Article
The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 236, doi. 10.1111/j.1399-0004.1997.tb02461.x
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Case Report: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 260, doi. 10.1111/j.1399-0004.1997.tb02466.x
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Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 231, doi. 10.1111/j.1399-0004.1997.tb02460.x
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Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 271, doi. 10.1111/j.1399-0004.1997.tb02469.x
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Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 → q35 and ring r (4) (pterq35.2-qter).
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- Clinical Genetics, 1997, v. 51, n. 4, p. 264, doi. 10.1111/j.1399-0004.1997.tb02467.x
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Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 275, doi. 10.1111/j.1399-0004.1997.tb02470.x
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Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 246, doi. 10.1111/j.1399-0004.1997.tb02463.x
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A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 286, doi. 10.1111/j.1399-0004.1997.tb02473.x
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Case Report: Corroboration of the lower extremity counterpart of the Poland sequence.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 257, doi. 10.1111/j.1399-0004.1997.tb02465.x
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Ohdo syndrome: report on a Brazilian girl with additional findings.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 268, doi. 10.1111/j.1399-0004.1997.tb02468.x
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The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 241, doi. 10.1111/j.1399-0004.1997.tb02462.x
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Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 281, doi. 10.1111/j.1399-0004.1997.tb02472.x
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Marinesco-Sjögren syndrome associated with acute mveloblastic leukemia.
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- Clinical Genetics, 1997, v. 51, n. 4, p. 278, doi. 10.1111/j.1399-0004.1997.tb02471.x
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- Article