- Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
[作者：Williams, SR; Mullegama, SV; Rosenfeld, JA; Dagli, AI; Hatchwell, E; Allen, WP; Williams, CA; Elsea, SH,期刊：European Journal of Human Genetics, 页码：436-441 , 文章类型： Article，,卷期：2010年18-4]
- Microdeletion of chromosome 2q23.1 results in a novel syndrome previously reported in five individuals. Many of the del(2)(q23.1) cases were thought to have other syndromes such as Angelman, Prader-Willi, or Smith-Mageni...
- Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3
[作者：Hannan, FM; Nesbit, MA; Turner, JJO; Stacey, JM; Cianferotti, L; Christie, PT; Conigrave, AD; Whyte, MP; Thakker, RV,期刊：European Journal of Human Genetics, 页码：442-447 , 文章类型： Article，,卷期：2010年18-4]
- Familial benign hypocalciuric hypercalcaemia (FBHH) is a genetically heterogeneous disorder that consists of three designated types, FBHH1, FBHH2 and FBHH3, whose chromosomal locations are 3q21.1, 19p and 19q13, respecti...
- Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei
[作者：Masny, PS; Chan, OYA; de Greef, JC; Bengtsson, U; Ehrlich, M; Tawil, R; Lock, LF; Hewitt, JE; Stocksdale, J; Martin, JH; van der Maarel, SM; Winokur, ST,期刊：European Journal of Human Genetics, 页码：448-456 , 文章类型： Article，,卷期：2010年18-4]
- Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is likely caused by epigenetic alterations in chromatin involving contraction of the D4Z4 repeat array near the telomere of chromosome 4q. The precise mech...
- High-throughput sequencing of microdissected chromosomal regions
[作者：Weise, A; Timmermann, B; Grabherr, M; Werber, M; Heyn, P; Kosyakova, N; Liehr, T; Neitzel, H; Konrat, K; Bommer, C; Dietrich, C; Rajab, A; Reinhardt, R; Mundlos, S; Lindner, TH; Hoffmann, K,期刊：European Journal of Human Genetics, 页码：457-462 , 文章类型： Article，,卷期：2010年18-4]
- The linkage of disease gene mapping with DNA sequencing is an essential strategy for defining the genetic basis of a disease. New massively parallel sequencing procedures will greatly facilitate this process, although en...
- Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes
[作者：Pichler, I; Fuchsberger, C; Platzer, C; Caliskan, M; Marroni, F; Pramstaller, PP; Ober, C,期刊：European Journal of Human Genetics, 页码：463-470 , 文章类型： Article，,卷期：2010年18-4]
- Although the North American Hutterites trace their origins to South Tyrol, no attempts have been made to examine the genetic migration history of the Hutterites before emigrating to the United States in the 1870s. To inv...
- Genomic landscape of positive natural selection in Northern European populations
[作者：Lappalainen, T; Salmela, E; Andersen, PM; Dahlman-Wright, K; Sistonen, P; Savontaus, ML; Schreiber, S; Lahermo, P; Kere, J,期刊：European Journal of Human Genetics, 页码：471-478 , 文章类型： Article，,卷期：2010年18-4]
- Analyzing genetic variation of human populations for detecting loci that have been affected by positive natural selection is important for understanding adaptive history and phenotypic variation in humans. In this study,...
- Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a
[作者：Underhill, PA; Myres, NM; Rootsi, S; Metspalu, M; Zhivotovsky, LA; King, RJ; Lin, AA; Chow, CET; Semino, O; Battaglia, V; Kutuev, I; Jarve, M; Chaubey, G; Ayub, Q; Mohyuddin, A; Mehdi, SQ; Sengupta, S; Rogaev, EI; Khusnutdinova, EK; Pshenichnov, A; Balanovsky, O; Balanovska, E; Jeran, N; Augustin, DH; Baldovic, M; Herrera, RJ; Thangaraj, K; Singh, V; Singh, L; Majumder, P; Rudan, P; Primorac, D; Villems, R; Kivisild, T,期刊：European Journal of Human Genetics, 页码：479-484 , 文章类型： Article，,卷期：2010年18-4]
- Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-Glacial coalescent times and relate...
- Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana
[作者：May, L; van Bodegom, D; Frolich, M; van Lieshout, L; Slagboom, PE; Westendorp, RGJ; Kuningas, M,期刊：European Journal of Human Genetics, 页码：490-495 , 文章类型： Article，,卷期：2010年18-4]
- Toll-like receptors (TLRs) are involved in the induction of an adequate immune response on infection. We hypothesized that genetic variation in TLR4 and TLR2 genes could influence this response and lead to variability in...
- Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach
[作者：Sobrin, L; Maller, JB; Neale, BM; Reynolds, RC; Fagerness, JA; Daly, MJ; Seddon, JM,期刊：European Journal of Human Genetics, 页码：496-501 , 文章类型： Article，,卷期：2010年18-4]
- About 40% of the genetic variance of age-related macular degeneration (AMD) can be explained by a common variation at five common single-nucleotide polymorphisms (SNPs). We evaluated the degree to which these known varia...
- A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis
[作者：Mero, IL; Lorentzen, AR; Ban, M; Smestad, C; Celius, EG; Aarseth, JH; Myhr, KM; Link, J; Hillert, J; Olsson, T; Kockum, I; Masterman, T; Oturai, AB; Sondergaard, HB; Sellebjerg, F; Saarela, J; Kemppinen, A; Elovaara, I; Spurkland, A; Dudbridge, F; Lie, BA; Harbo, HF,期刊：European Journal of Human Genetics, 页码：502-504 , 文章类型： Article，,卷期：2010年18-4]
- A rare functional variant within the TYK2 gene (rs34536443) has been reported as protective in multiple sclerosis (MS) in recent studies. However, because of the low frequency of the minor allele (minor allele frequency ...
- Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy
[作者：Burlet, P; Gigarel, N; Magen, M; Drunat, S; Benachi, A; Hesters, L; Munnich, A; Bonnefont, JP; Steffann, J,期刊：European Journal of Human Genetics, 页码：505-508 , 文章类型： Article，,卷期：2010年18-4]
- With the detection of a homozygous deletion of the survival motor neuron 1 gene (SMN1), prenatal and preimplantation genetic diagnosis (PGD) for spinal muscular atrophy has become feasible and widely applied. The finding...
- Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes (vol 18, pg 463, 2010)
[作者：Pichler, I; Fuchsberger, C; Platzer, C; Caliskan, M; Marroni, F; Pramstaller, PP; Ober, C,期刊：European Journal of Human Genetics, 页码：509-509 , 文章类型： Correction，,卷期：2010年18-4]
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- Septo-optic dysplasia
[作者：Webb, EA; Dattani, MT,期刊：European Journal of Human Genetics, 页码：393-397 , 文章类型： Article，,卷期：2010年18-4]
- This review summarises the key clinical features of septo-optic dysplasia (SOD), the significant inroads that progress in genetics has made into our understanding of the aetiology of the condition over the last decade, a...
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