Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 10
Results: 34
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp to val in Linker 12 domin of keratin 5.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1999
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- Article
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1995
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- Article
Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1993
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- Article
Detection of BRCA1 mutations by the protein truncation test.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1989
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- Article
Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1987
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- Article
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1983
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- Article
Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1979
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- Article
A gene for ulnar–mammary syndrome maps to 1 2q23–q24.1.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1973
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- Article
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1967
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- Article
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 2006
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- Article
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1963
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- Article
CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1957
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- Article
Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1953
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- Article
Quantitative DNA fiber mapping.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1903
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- Article
Microsatellite instability at a single locus (D11S988) on chromosome 11p15.5 as a late event in mammary tumorigenesis.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1889
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- Article
Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 2005
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- Article
Conservation of a maternal-specific methylation signal at the human IGF2R locus.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1945
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- Article
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1911
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- Article
Mutation analysis of the ROM1 gene in retinitis pigmentosa.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1895
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- Article
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1935
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- Article
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1927
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- Article
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1919
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- Article
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1875
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- Article
New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1869
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- Article
Molecular defects in Krabbe disease.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1865
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An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1821
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- Article
Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1883
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- Article
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1853
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- Article
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1837
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- Article
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1859
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- Article
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 2003
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- Article
Mutations of the CDKN2/p16 gene in Australian melanoma kindreds.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1845
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- Article
A deletion hot-spot in exon 7 of the G8α gene (GNAS1) in patients with Aibright hereditary osteodystrophy.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 2001
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- Article
Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.
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- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1829
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- Article