- Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity
[作者：Masotti, C; Oliveira, KG; Poerner, F; Splendore, A; Souza, J; Freitas, RD; Zechi-Ceide, R; Guion-Almeida, ML; Passos-Bueno, MR,期刊：European Journal of Human Genetics, 页码：145-152 , 文章类型： Article，,卷期：2008年16-2]
- Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears ('question mark ears'), prominent cheeks, microstomia, abnormal temporomandibular...
- Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease
[作者：Blom, ES; Viswanathan, J; Kilander, L; Helisalmi, S; Soininen, H; Lannfelt, L; Ingelsson, M; Glaser, A; Hiltunen, M,期刊：European Journal of Human Genetics, 页码：171-175 , 文章类型： Article，,卷期：2008年16-2]
- Familial early-onset Alzheimer's disease with cerebral amyloid angiopathy (EOAD/CAA) was recently associated with duplications of the gene for the amyloid-beta precursor protein (APP). In this study, we have screened for...
- X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X
[作者：Migeon, BR; Pappas, K; Stetten, G; Trunca, C; Jacobs, PA,期刊：European Journal of Human Genetics, 页码：153-162 , 文章类型： Article，,卷期：2008年16-2]
- Only one X chromosome functions in diploid human cells irrespective of the sex of the individual and the number of X chromosomes. Yet, as we show, more than one X is active in the majority of human triploid cells. Theref...
- Is the prevalence of Klinefelter syndrome increasing?
[作者：Morris, JK; Alberman, E; Scott, C; Jacobs, P,期刊：European Journal of Human Genetics, 页码：163-170 , 文章类型： Article，,卷期：2008年16-2]
- The birth prevalence of sex chromosome trisomies (SCT), that is individuals with an XYY, XXY or XXX sex chromosome constitution, is traditionally based on six surveys of unselected newborns carried out in the 1960s and e...
- An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases
[作者：O'Dushlaine, CT; Dolan, C; Weale, ME; Stanton, A; Croke, DT; Kalviainen, R; Eriksson, K; Kantanen, AM; Gibson, RA; Hosford, D; Sisodiya, SM; Gill, M; Corvin, AP; Morris, DW; Delanty, N; Cavalleri, GL,期刊：European Journal of Human Genetics, 页码：176-183 , 文章类型： Article，,卷期：2008年16-2]
- The recent completion of the International HapMap Project has rapidly advanced our understanding of linkage disequilibrium (LD) in the human genome. Today, tagging SNPs (tSNPs) can be quickly and easily selected and cons...
- Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic
[作者：Wieland, I; Makarov, R; Reardon, W; Tinschert, S; Goldenberg, A; Thierry, P; Wieacker, P,期刊：European Journal of Human Genetics, 页码：184-191 , 文章类型： Article，,卷期：2008年16-2]
- Craniofrontonasal syndrome (CFNS) is an X-linked malformation syndrome with variable phenotype that is caused by mutations in the ephrin-B1 gene (EFNB1). Over 50% of EFNB1 mutations result in premature termination codons...
- Patient mutations alter ATRX targeting to PML nuclear bodies
[作者：Berube, NG; Healy, J; Medina, CF; Wu, S; Hodgson, T; Jagla, M; Picketts, DJ,期刊：European Journal of Human Genetics, 页码：192-201 , 文章类型： Article，,卷期：2008年16-2]
- ATRX is a SWI/SNF-like chromatin remodeling protein mutated in several X-linked mental retardation syndromes. Gene inactivation studies in mice demonstrate that ATRX is an essential protein and suggest that patient mutat...
- Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease
[作者：Sillen, A; Andrade, J; Lilius, L; Forsell, C; Axelman, K; Odeberg, J; Winblad, B; Graff, C,期刊：European Journal of Human Genetics, 页码：202-208 , 文章类型： Article，,卷期：2008年16-2]
- Alzheimer's disease (AD) is a neurodegenerative disease that affects approximately 20 million persons all over the world. There are both sporadic and familial forms of AD. We have previously reported a genome-wide linkag...
- A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy
[作者：Tabolacci, E; Pomponi, MG; Pietrobono, R; Chiurazzi, P; Neri, G,期刊：European Journal of Human Genetics, 页码：209-214 , 文章类型： Article，,卷期：2008年16-2]
- Fragile X syndrome (FXS) is caused mostly by expansion and subsequent methylation of the CGG repeat in the 5'UTR of the FMR1 gene, resulting in silencing of the gene, absence of FMRP and development of the FXS phenotype....
- Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17
[作者：Gao, R; Matsuura, T; Coolbaugh, M; Zuhlke, C; Nakamura, K; Rasmussen, A; Siciliano, MJ; Ashizawa, T; Lin, X,期刊：European Journal of Human Genetics, 页码：215-222 , 文章类型： Article，,卷期：2008年16-2]
- Trinucleotide repeat expansions are dynamic mutations causing many neurological disorders, and their instability is influenced by multiple factors. Repeat configuration seems particularly important, and pure repeats are ...
- The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor
[作者：Becker, K; Breitinger, HG; Humeny, A; Meinck, HM; Dietz, B; Aksu, F; Becker, CM,期刊：European Journal of Human Genetics, 页码：223-228 , 文章类型： Article，,卷期：2008年16-2]
- Mutations in the GLRA1 gene, which encodes the alpha 1-subunit of the inhibitory glycine receptor (GlyR), are the underlying causes in the majority of cases of hereditary startle disease (OMIM no. 149400). GlyRs are modu...
- Exploration of gene-gene interaction effects using entropy-based methods
[作者：Dong, CZ; Chu, X; Wang, Y; Wang, Y; Jin, L; Shi, TL; Huang, W; Li, YX,期刊：European Journal of Human Genetics, 页码：229-235 , 文章类型： Article，,卷期：2008年16-2]
- Gene-gene interaction may play important roles in complex disease studies, in which interaction effects coupled with single-gene effects are active. Many interaction models have been proposed since the beginning of the l...
- A novel sampling design to explore gene-longevity associations: the ECHA study
[作者：De Rango, F; Dato, S; Bellizzi, D; Rose, G; Marzi, E; Cavallone, L; Franceschi, C; Skytthe, A; Jeune, B; Cournil, A; Robine, JM; Gampe, J; Vaupel, JW; Mari, V; Feraco, E; Passarino, G; Novelletto, A; De Benedictis, G,期刊：European Journal of Human Genetics, 页码：236-242 , 文章类型： Article，,卷期：2008年16-2]
- To investigate the genetic contribution to familial similarity in longevity, we set up a novel experimental design where cousin-pairs born from siblings who were concordant or discordant for the longevity trait were anal...
- Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia
[作者：Magalon, H; Patin, E; Austerlitz, F; Hegay, T; Aldashev, A; Quintana-Murci, L; Heyer, E,期刊：European Journal of Human Genetics, 页码：243-251 , 文章类型： Article，,卷期：2008年16-2]
- The arylamine N-acetyltransferase 2 (NAT2) enzyme detoxifies a wide spectrum of naturally occurring xenobiotics including carcinogens and drugs. Variation at the NAT2 gene has been linked to the human acetylation capacit...
|