Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1).
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 178, doi. 10.1007/s00439-002-0848-6
- By:
- Publication type:
- Article
Works matching IS 03406717 AND DT 2003 AND VI 112 AND IP 2
Results: 17
1
2
Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 171, doi. 10.1007/s00439-002-0859-3
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- Publication type:
- Article
3
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 164, doi. 10.1007/s00439-002-0854-8
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- Publication type:
- Article
4
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 186, doi. 10.1007/s00439-002-0861-9
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- Publication type:
- Article
5
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 117, doi. 10.1007/s00439-002-0858-4
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- Publication type:
- Article
6
Arrangement of chromosome 11 and 22 territories, EWSR1 and FLI1 genes, and other genetic elements of these chromosomes in human lymphocytes and Ewing sarcoma cells.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 143, doi. 10.1007/s00439-002-0847-7
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- Publication type:
- Article
7
Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 204, doi. 10.1007/s00439-002-0853-9
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- Publication type:
- Article
8
Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 195, doi. 10.1007/s00439-002-0852-x
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- Publication type:
- Article
9
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 190, doi. 10.1007/s00439-002-0849-5
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- Publication type:
- Article
10
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 131, doi. 10.1007/s00439-002-0862-8
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- Publication type:
- Article
11
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 209, doi. 10.1007/s00439-002-0860-x
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- Publication type:
- Article
12
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 156, doi. 10.1007/s00439-002-0833-0
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- Publication type:
- Article
13
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1
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- Publication type:
- Article
14
Several interacting genes influence the malignant hyperthermia phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 217, doi. 10.1007/s00439-002-0864-6
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- Publication type:
- Article
15
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 124, doi. 10.1007/s00439-002-0863-7
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- Publication type:
- Article
16
Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic?
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 105, doi. 10.1007/s00439-002-0866-4
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- Publication type:
- Article
17
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 110, doi. 10.1007/s00439-002-0865-5
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- Publication type:
- Article