Works matching IS 10184813 AND DT 1999 AND VI 7
Results: 155
MtDNA-related idiopathic dilated cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 847, doi. 10.1038/sj.ejhg.5200380
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- Article
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 849, doi. 10.1038/sj.ejhg.5200382
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- Article
Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 860, doi. 10.1038/sj.ejhg.5200383
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- Article
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 920, doi. 10.1038/sj.ejhg.5200384
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- Article
Multiple APC mutations in sporadic flat colorectal adenomas.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 928, doi. 10.1038/sj.ejhg.5200386
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- Article
Germline and gonosomal mosaicism in the ATR-X syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 933, doi. 10.1038/sj.ejhg.5200387
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- Article
Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 873
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- Article
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 937, doi. 10.1038/sj.ejhg.5200390
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- Article
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G<sup>3145</sup>TG/A<sup>3145</sup>TG).
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 889, doi. 10.1038/sj.ejhg.5200392
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- Article
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 897, doi. 10.1038/sj.ejhg.5200395
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- Article
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 884, doi. 10.1038/sj.ejhg.5200398
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- Article
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 903, doi. 10.1038/sj.ejhg.5200399
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- Article
Probing the Gene eXpression Database for candidate genes.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 910, doi. 10.1038/sj.ejhg.5200405
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- Article
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 941, doi. 10.1038/sj.ejhg.5200410
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- Article
Corrigendum.
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- 1999
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- Correction Notice
Author index.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 945, doi. 10.1038/sj.ejhg.5200413
- Publication type:
- Article
Keyword index.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 949, doi. 10.1038/sj.ejhg.5200414
- Publication type:
- Article
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 778, doi. 10.1038/sj.ejhg.5200363
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- Article
Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 783, doi. 10.1038/sj.ejhg.5200365
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- Article
Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 757, doi. 10.1038/sj.ejhg.5200368
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- Article
Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 791, doi. 10.1038/sj.ejhg.5200369
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- Article
Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 765, doi. 10.1038/sj.ejhg.5200370
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- Article
BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 833, doi. 10.1038/sj.ejhg.5200371
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- Article
A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 841, doi. 10.1038/sj.ejhg.5200372
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- Article
Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 801, doi. 10.1038/sj.ejhg.5200373
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- Article
Analysis of FMR1 (CGG)<sub>n</sub> alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 771, doi. 10.1038/sj.ejhg.5200374
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- Article
Revised exon–intron structure of human JAK3 locus.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 837, doi. 10.1038/sj.ejhg.5200375
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- Article
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 828, doi. 10.1038/sj.ejhg.5200376
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- Article
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 807, doi. 10.1038/sj.ejhg.5200377
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- Article
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 748, doi. 10.1038/sj.ejhg.5200378
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- Article
Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 821, doi. 10.1038/sj.ejhg.5200381
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- Article
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 815, doi. 10.1038/sj.ejhg.5200385
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- Article
A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 737, doi. 10.1038/sj.ejhg.5200396
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- Article
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 724, doi. 10.1038/sj.ejhg.5200323
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Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer's disease patients.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 652, doi. 10.1038/sj.ejhg.5200342
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- Article
Allelic heterogeneity of alkaptonuria in Central Europe.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 645
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- Article
Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 695, doi. 10.1038/sj.ejhg.5200344
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- Article
Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 671, doi. 10.1038/sj.ejhg.5200349
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- Article
Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 659, doi. 10.1038/sj.ejhg.5200351
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- Article
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 687, doi. 10.1038/sj.ejhg.5200352
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- Article
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 625, doi. 10.1038/sj.ejhg.5200353
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- Article
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 633, doi. 10.1038/sj.ejhg.5200355
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- Article
Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 704
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- Article
More evidence that founder effects exist in the European population.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 623, doi. 10.1038/sj.ejhg.5200357
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- Article
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 729, doi. 10.1038/sj.ejhg.5200358
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- Article
Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 733
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- Article
Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 679, doi. 10.1038/sj.ejhg.5200360
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- Article
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 664
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A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 638, doi. 10.1038/sj.ejhg.5200362
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- Article
POSTERS TOPIC F: CHARACTERISATION OF MUTATIONS.
- Published in:
- 1999
- Publication type:
- Abstract