- Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
[作者：Klitten, LL; Moller, RS; Ravn, K; Hjalgrim, H; Tommerup, N,期刊：European Journal of Human Genetics, 页码：1-2 , 文章类型： Letter，,卷期：2011年19-1]
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- Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
[作者：Banka, S; Chervinsky, E; Newman, WG; Crow, YJ; Yeganeh, S; Yacobovich, J; Donnai, D; Shalev, S,期刊：European Journal of Human Genetics, 页码：18-22 , 文章类型： Article，,卷期：2011年19-1]
- Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature ...
- Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)
[作者：Vastinsalo, H; Jalkanen, R; Dinculescu, A; Isosomppi, J; Geller, S; Flannery, JG; Hauswirth, WW; Sankila, EM,期刊：European Journal of Human Genetics, 页码：30-35 , 文章类型： Article，,卷期：2011年19-1]
- Clarin 1 (CLRN1) is a four-transmembrane protein expressed in cochlear hair cells and neural retina, and when mutated it causes Usher syndrome type 3 (USH3). The main human splice variant of CLRN1 is composed of three ex...
- p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study
[作者：Rene, C; Paulet, D; Girodon, E; Costa, C; Lalau, G; Leclerc, J; Cabet-Bey, F; Bienvenu, T; Blayau, M; Iron, A; Mittre, H; Feldmann, D; Guittard, C; Claustres, M; des Georges, M,期刊：European Journal of Human Genetics, 页码：36-42 , 文章类型： Article，,卷期：2011年19-1]
- Among the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p. Ser1235Arg, is a relatively frequent finding. To clarify its clinical significance, we col...
- Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH
[作者：Tsai, ACH; Dossett, CJ; Walton, CS; Cramer, AE; Eng, PA; Nowakowska, BA; Pursley, AN; Stankiewicz, P; Wiszniewska, J; Cheung, SW,期刊：European Journal of Human Genetics, 页码：43-49 , 文章类型： Article，,卷期：2011年19-1]
- We demonstrate the utility of an exon coverage microarray platform in detecting intragenic deletions: one in exons 24-27 of the EP300 gene and another in exons 27 and 28 of the CREBBP gene in two patients with Rubinstein...
- Experiences with array-based sequence capture; toward clinical applications
[作者：Almomani, R; van der Heijden, J; Ariyurek, Y; Lai, YC; Bakker, E; van Galen, M; Breuning, MH; den Dunnen, JT,期刊：European Journal of Human Genetics, 页码：50-55 , 文章类型： Article，,卷期：2011年19-1]
- Although sequencing of a human genome gradually becomes an option, zooming in on the region of interest remains attractive and cost saving. We performed array-based sequence capture using 385K Roche NimbleGen, Inc. array...
- Nicotinic alpha 5 receptor subunit mRNA expression is associated with distant 5 ' upstream polymorphisms
[作者：Smith, RM; Alachkar, H; Papp, AC; Wang, DX; Mash, DC; Wang, JC; Bierut, LJ; Sadee, W,期刊：European Journal of Human Genetics, 页码：76-83 , 文章类型： Article，,卷期：2011年19-1]
- CHRNA5, encoding the nicotinic alpha 5 subunit, is implicated in multiple disorders, including nicotine addiction and lung cancer. Previous studies demonstrate significant associations between promoter polymorphisms and ...
- A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations
[作者：Sikora, M; Laayouni, H; Calafell, F; Comas, D; Bertranpetit, J,期刊：European Journal of Human Genetics, 页码：84-88 , 文章类型： Article，,卷期：2011年19-1]
- Studies of large sets of single nucleotide polymorphism (SNP) data have proven to be a powerful tool in the analysis of the genetic structure of human populations. In this work, we analyze genotyping data for 2841 SNPs i...
- A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe
[作者：Myres, NM; Rootsi, S; Lin, AA; Jarve, M; King, RJ; Kutuev, I; Cabrera, VM; Khusnutdinova, EK; Pshenichnov, A; Yunusbayev, B; Balanovsky, O; Balanovska, E; Rudan, P; Baldovic, M; Herrera, RJ; Chiaroni, J; Di Cristofaro, J; Villems, R; Kivisild, T; Underhill, PA,期刊：European Journal of Human Genetics, 页码：95-101 , 文章类型： Article，,卷期：2011年19-1]
- The phylogenetic relationships of numerous branches within the core Y-chromosome haplogroup R-M207 support a West Asian origin of haplogroup R1b, its initial differentiation there followed by a rapid spread of one of its...
- Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
[作者：Brunetti-Pierri, N; Paciorkowski, AR; Ciccone, R; Della Mina, E; Bonaglia, MC; Borgatti, R; Schaaf, CP; Sutton, VR; Xia, ZL; Jelluma, N; Ruivenkamp, C; Bertrand, M; de Ravel, TJL; Jayakar, P; Belli, S; Rocchetti, K; Pantaleoni, C; D'Arrigo, S; Hughes, J; Cheung, SW; Zuffardi, O; Stankiewicz, P,期刊：European Journal of Human Genetics, 页码：102-107 , 文章类型： Article，,卷期：2011年19-1]
- Genome-wide high-resolution array analysis is rapidly becoming a reliable method of diagnostic investigation in individuals with mental retardation and congenital anomalies, leading to the identification of several novel...
- Cervix smear abnormalities: linking pathology data in female twins, their mothers and sisters
[作者：Vink, JM; van Kemenade, FJ; Meijer, CJLM; Casparie, MK; Meijer, GA; Boomsma, DI,期刊：European Journal of Human Genetics, 页码：108-111 , 文章类型： Article，,卷期：2011年19-1]
- Mass screening for cervical cancer precursors has decreased the incidence of cervical cancer in several countries, including the Netherlands. Persistent infections of certain types of human papillomavirus are strongly as...
- Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
[作者：Kahrizi, K; Hu, CH; Garshasbi, M; Abedini, SS; Ghadami, S; Kariminejad, R; Ullmann, R; Chen, W; Ropers, HH; Kuss, AW; Najmabadi, H; Tzschach, A,期刊：European Journal of Human Genetics, 页码：115-117 , 文章类型： Article，,卷期：2011年19-1]
- As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation, coloboma, cataract an...
- Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
[作者：Gekas, J; van den Berg, DG; Durand, A; Vallee, M; Wildschut, HIJ; Bujold, E; Forest, JC; Rousseau, F; Reinharz, D,期刊：European Journal of Human Genetics, 页码：3-9 , 文章类型： Article，,卷期：2011年19-1]
- In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods f...
- Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome
[作者：Hawkins, M; Boyle, J; Wright, KE; Elles, R; Ramsden, SC; O'Grady, A; Sweeney, M; Barton, DE; Burgess, T; Moore, M; Burns, C; Stacey, G; Gray, E; Metcalfe, P; Hawkins, JR,期刊：European Journal of Human Genetics, 页码：10-17 , 文章类型： Article，,卷期：2011年19-1]
- Fragile X syndrome is the most common inherited form of mental retardation. It is caused by expansion of a trinucleotide (CGG)n repeat sequence in the 5' untranslated region of the FMR1 gene, resulting in promoter hyperm...
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