Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 4/5
Results: 30
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 405, doi. 10.1007/s00439-002-0810-7
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- Publication type:
- Article
CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 452, doi. 10.1007/s00439-002-0807-2
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- Article
Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 323, doi. 10.1007/s00439-002-0805-4
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- Article
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 360, doi. 10.1007/s00439-002-0798-z
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- Article
Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 443, doi. 10.1007/s00439-002-0802-7
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- Article
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 314, doi. 10.1007/s00439-002-0792-5
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- Article
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 331, doi. 10.1007/s00439-002-0808-1
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- Article
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 401, doi. 10.1007/s00439-002-0785-4
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- Article
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6
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- Article
October 2002.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 475, doi. 10.1007/s00439-002-0842-z
- Publication type:
- Article
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 305, doi. 10.1007/s00439-002-0786-3
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- Article
A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 339, doi. 10.1007/s00439-002-0771-x
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- Article
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 376, doi. 10.1007/s00439-002-0777-4
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- Article
ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 398, doi. 10.1007/s00439-002-0816-1
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- Article
Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 435, doi. 10.1007/s00439-002-0814-3
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- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- 2002
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- Publication type:
- Erratum
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 350, doi. 10.1007/s00439-002-0793-4
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- Publication type:
- Article
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 428, doi. 10.1007/s00439-002-0806-3
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- Publication type:
- Article
Folate and human development: Edward J. Massaro, John M. Rogers (editors), Humana Press, ISBN 0-896-03936-6, Harcover, US$ 119.00.
- Published in:
- 2002
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- Publication type:
- Book Review
Derek Chadwick, Jamie Goode (eds): The Genetics and Biology of Sex Determination (Novartis Symposium 244): Wiley, 2002, 266 pp, hardcover (ISBN 0470843462) £75.00.
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- 2002
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- Publication type:
- Book Review
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 310, doi. 10.1007/s00439-002-0812-5
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- Article
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 368, doi. 10.1007/s00439-002-0815-2
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- Article
Associations between gene expressions in breast cancer and patient survival.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 411, doi. 10.1007/s00439-002-0804-5
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- Publication type:
- Article
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 388, doi. 10.1007/s00439-002-0782-7
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- Article
The prevalence of connexin 26 (GJB2) mutations in the Chinese population.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 394, doi. 10.1007/s00439-002-0811-6
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- Article
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 456, doi. 10.1007/s00439-002-0817-0
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- Article
Mitochondrial DNA 5178A polymorphism and longevity.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 462, doi. 10.1007/s00439-002-0826-z
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- Publication type:
- Article
Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 465, doi. 10.1007/s00439-002-0794-3
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- Publication type:
- Article
Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 468, doi. 10.1007/s00439-002-0795-2
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- Publication type:
- Article
Frontiers of hormone research (series editor: A.B. Grossman), volume 28: genetic disorders of endocrine neoplasia: P.L.M. Dahia, C. Eng (editors), Karger, Basel, ISBN 3-8055-7203-4, Hardcover, US$ 239.25, 218 pages.
- Published in:
- 2002
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- Publication type:
- Book Review