A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 464
- By:
- Publication type:
- Article
Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 6
Results: 12
1
2
Combined segregation and linkage analysis of 59 Hodgkin's disease families indicates the role of HLA determinants.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 460, doi. 10.1038/sj.ejhg.5200419
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- Publication type:
- Article
3
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 437, doi. 10.1038/sj.ejhg.5200489
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- Publication type:
- Article
4
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 455, doi. 10.1038/sj.ejhg.5200493
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- Publication type:
- Article
5
A likelihood-based extended admixture model of oligogenic inheritance in ‘model-based’ and ‘model-free’ analysis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 399, doi. 10.1038/sj.ejhg.5200466
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- Publication type:
- Article
6
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 414, doi. 10.1038/sj.ejhg.5200475
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- Publication type:
- Article
7
Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 431, doi. 10.1038/sj.ejhg.5200481
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- Publication type:
- Article
8
Isolation and chromosomal localization of a new human retinoblastoma binding protein 2 homologue 1a (RBBP2H1A).
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 407, doi. 10.1038/sj.ejhg.5200474
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- Publication type:
- Article
9
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 423, doi. 10.1038/sj.ejhg.5200478
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- Publication type:
- Article
10
X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 449, doi. 10.1038/sj.ejhg.5200480
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- Publication type:
- Article
11
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32–p11.23 in an Italian family.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 443, doi. 10.1038/sj.ejhg.5200506
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- Publication type:
- Article
12
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
- Published in:
- 2000
- By:
- Publication type:
- Correction Notice