- High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis
[作者:Gervasini, C; Mottadelli, F; Ciccone, R; Castronovo, P; Milani, D; Scarano, G; Bedeschi, MF; Belli, S; Pilotta, A; Selicorni, A; Zuffardi, O; Larizza, L,期刊:European Journal of Human Genetics, 页码:768-775 , 文章类型: Article,,卷期:2010年18-7]
- Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmorphisms, growth and psychomotor development delay, and skeletal defects. The known genetic causes are point mutations or...
- The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
[作者:De Bortoli, M; Beffagna, G; Bauce, B; Lorenzon, A; Smaniotto, G; Rigato, I; Calore, M; Mura, IEAL; Basso, C; Thiene, G; Lanfranchi, G; Danieli, GA; Nava, A; Rampazzo, A,期刊:European Journal of Human Genetics, 页码:776-782 , 文章类型: Article,,卷期:2010年18-7]
- Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), an autosomal-dominant disease characterised by progressive myocardial atroph...
- Paternal origin of the de novo constitutional t(11;22)(q23;q11)
[作者:Ohye, T; Inagaki, H; Kogo, H; Tsutsumi, M; Kato, T; Tong, MQ; Macville, MVE; Medne, L; Zackai, EH; Emanuel, BS; Kurahashi, H,期刊:European Journal of Human Genetics, 页码:783-787 , 文章类型: Article,,卷期:2010年18-7]
- The constitutional t(11;22)(q23;q11) is a well-known recurrent non-Robertsonian translocation in humans. Although translocations generally occur in a random fashion, the break points of t(11;22)s are concentrated within ...
- The USH2A c. 2299delG mutation: dating its common origin in a Southern European population
[作者:Aller, E; Larrieu, L; Jaijo, T; Baux, D; Espinos, C; Gonzalez-Candelas, F; Najera, C; Palau, F; Claustres, M; Roux, AF; Millan, JM,期刊:European Journal of Human Genetics, 页码:788-793 , 文章类型: Article,,卷期:2010年18-7]
- Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of an in...
- Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk
[作者:Cavanillas, ML; Alcina, A; Nunez, C; de las Heras, V; Fernandez-Arquero, M; Bartolome, M; de la Concha, EG; Fernandez, O; Arroyo, R; Matesanz, F; Urcelay, E,期刊:European Journal of Human Genetics, 页码:794-799 , 文章类型: Article,,卷期:2010年18-7]
- Interleukin (IL)-2/IL-2R signalling promotes proliferation and survival of activated T cells and has an essential non-redundant role in the production of regulatory T cells. Associations with different autoimmune disease...
- Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages
[作者:Cruciani, F; Trombetta, B; Sellitto, D; Massaia, A; Destro-Bisol, G; Watson, E; Colomb, EB; Dugoujon, JM; Moral, P; Scozzari, R,期刊:European Journal of Human Genetics, 页码:800-807 , 文章类型: Article,,卷期:2010年18-7]
- Although human Y chromosomes belonging to haplogroup R1b are quite rare in Africa, being found mainly in Asia and Europe, a group of chromosomes within the paragroup R-P25* are found concentrated in the central-western p...
- A new set of markers for human identification based on 32 polymorphic Alu insertions
[作者:Mamedov, IZ; Shagina, IA; Kurnikova, MA; Novozhilov, SN; Shagin, DA; Lebedev, YB,期刊:European Journal of Human Genetics, 页码:808-814 , 文章类型: Article,,卷期:2010年18-7]
- A number of genetic systems for human genetic identification based on short tandem repeats or single nucleotide polymorphisms are widely used for crime detection, kinship studies and in analysis of victims of mass disast...
- Common genetic variation and performance on standardized cognitive tests
[作者:Cirulli, ET; Kasperaviciute, D; Attix, DK; Need, AC; Ge, DL; Gibson, G; Goldstein, DB,期刊:European Journal of Human Genetics, 页码:815-819 , 文章类型: Article,,卷期:2010年18-7]
- One surprising feature of the recently completed waves of genome-wide association studies is the limited impact of common genetic variation in individually detectable polymorphisms on many human traits. This has been par...
- Evidence for interaction between 5-hydroxytryptamine (serotonin) receptor 2A and MHC type II molecules in the development of rheumatoid arthritis
[作者:Seddighzadeh, M; Korotkova, M; Kallberg, H; Ding, B; Daha, N; Kurreeman, FAS; Toes, REM; Huizinga, TW; Catrina, AI; Alfredsson, L; Klareskog, L; Padyukov, L,期刊:European Journal of Human Genetics, 页码:821-826 , 文章类型: Article,,卷期:2010年18-7]
- It has repeatedly been suggested that the development of complex diseases can be elucidated by gene-gene interactions. Recently, we found that HTR2A, a member of the serotonin receptor family, is associated with rheumato...
- Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis
[作者:Alcina, A; Fernandez, O; Gonzalez, JR; Catala-Rabasa, A; Fedetz, M; Ndagire, D; Leyva, L; Guerrero, M; Arnal, C; Delgado, C; Lucas, M; Izquierdo, G; Matesanz, F,期刊:European Journal of Human Genetics, 页码:827-831 , 文章类型: Article,,卷期:2010年18-7]
- A recent genome-wide association study conducted by the International Multiple Sclerosis Genetic Consortium (IMSGC) identified, among others, a number of putative multiple sclerosis (MS) susceptibility variants at positi...
- Replication of the LINGO1 gene association with essential tremor in a North American population
[作者:Clark, LN; Park, N; Kisselev, S; Rios, E; Lee, JH; Louis, ED,期刊:European Journal of Human Genetics, 页码:838-843 , 文章类型: Article,,卷期:2010年18-7]
- A marker in the LINGO1 gene, rs9652490, showing significant genome-wide association with essential tremor (ET), was recently reported in an Icelandic population. To replicate this association in an independent population...
- Quality standards in Biobanking: authentication by genetic profiling of blood spots from donor's original sample
[作者:Cardoso, S; Valverde, L; Odriozola, A; Elcoroaristizabal, X; de Pancorbo, MM,期刊:European Journal of Human Genetics, 页码:848-851 , 文章类型: Article,,卷期:2010年18-7]
- The field of Biobanking requires extensive work to maintain traceability of samples. However, sometimes the necessity to authenticate a sample may arise. To address these circumstances, we herein present a method for aut...
- Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities
[作者:Frost, AR; Bohm, SV; Sewduth, RN; Josifova, D; Ogilvie, CM; Izatt, L; Roberts, RG,期刊:European Journal of Human Genetics, 页码:852-855 , 文章类型: Article,,卷期:2010年18-7]
- Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha 2) and whose own aberrant post-translational modification is the common aetiological route of...
- The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases
[作者:Zanna, I; Rizzolo, P; Sera, F; Falchetti, M; Aretini, P; Giannini, G; Masala, G; Gulino, A; Palli, D; Ottini, L,期刊:European Journal of Human Genetics, 页码:856-858 , 文章类型: Article,,卷期:2010年18-7]
- No study has evaluated the performance of BRCA1/2 mutations prediction models in male breast cancer (MBC) series. Although rare, MBC deserves attention because male and female breast cancers share many characteristics, i...
|