- A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
[作者：Kanber, D; Giltay, J; Wieczorek, D; Zogel, C; Hochstenbach, R; Caliebe, A; Kuechler, A; Horsthemke, B; Buiting, K,期刊：European Journal of Human Genetics, 页码：582-590 , 文章类型： Article，,卷期：2009年17-5]
- The Prader-Willi syndrome (PWS) is caused by a 5-6 Mbp de novo deletion on the paternal chromosome 15, maternal uniparental disomy 15 or an imprinting defect. All three lesions lead to the lack of expression of imprinted...
- In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
[作者：Shatunov, A; Olive, M; Odgerel, Z; Stadelmann-Nessler, C; Irlbacher, K; van Landeghem, F; Bayarsaikhan, M; Lee, HS; Goudeau, B; Chinnery, PF; Straub, V; Hilton-Jones, D; Damian, MS; Kaminska, A; Vicart, P; Bushby, K; Dalakas, MC; Sambuughin, N; Ferrer, I; Goebel, HH; Goldfarb, LG,期刊：European Journal of Human Genetics, 页码：656-663 , 文章类型： Article，,卷期：2009年17-5]
- Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p. W27...
- Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect
[作者：Bliznetz, EA; Tverskaya, SM; Zinchenko, RA; Abrukova, AV; Savaskina, EN; Nikulin, MV; Kirillov, AG; Ginter, EK; Polyakov, AV,期刊：European Journal of Human Genetics, 页码：664-672 , 文章类型： Article，,卷期：2009年17-5]
- The rare malignant disorder autosomal recessive osteopetrosis (OPTB) is one of the most prevalent autosomal recessive diseases in the Chuvash Republic of Russia. The purpose of this study was to determine the underlying ...
- Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly
[作者：Li, H; Wang, CY; Wang, JX; Wu, GS; Yu, P; Yan, XY; Chen, YG; Zhao, LH; Zhang, YP,期刊：European Journal of Human Genetics, 页码：604-610 , 文章类型： Article，,卷期：2009年17-5]
- Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal domi...
- Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
[作者：Bliek, J; Verde, G; Callaway, J; Maas, SM; De Crescenzo, A; Sparago, A; Cerrato, F; Russo, S; Ferraiuolo, S; Rinaldi, MM; Fischetto, R; Lalatta, F; Giordano, L; Ferrari, P; Cubellis, MV; Larizza, L; Temple, IK; Mannens, MMAM; Mackay, DJG; Riccio, A,期刊：European Journal of Human Genetics, 页码：611-619 , 文章类型： Article，,卷期：2009年17-5]
- Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical regulators of growth and development, and imprinting disorders ar...
- GAB2 is not associated with late-onset Alzheimer's disease in Japanese
[作者：Miyashita, A; Arai, H; Asada, T; Imagawa, M; Shoji, M; Higuchi, S; Urakami, K; Toyabe, S; Akazawa, K; Kanazawa, I; Ihara, Y; Kuwano, R,期刊：European Journal of Human Genetics, 页码：682-686 , 文章类型： Article，,卷期：2009年17-5]
- The epsilon 4 allele of the apolipoprotein E gene (APOE) is unequivocally recognized as a genetic risk factor for late-onset Alzheimer's disease (LOAD). Recently, single-nucleotide polymorphisms (SNPs) of the GRB2-associ...
- A 15q13.3 microdeletion segregating with autism
[作者：Pagnamenta, AT; Wing, K; Akha, ES; Knight, SJL; Bolte, S; Schmotzer, G; Duketis, E; Poustka, F; Klauck, SM; Poustka, A; Ragoussis, J; Bailey, AJ; Monaco, AP,期刊：European Journal of Human Genetics, 页码：687-692 , 文章类型： Article，,卷期：2009年17-5]
- Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare similar to 2Mb microdeletion involving chromosome band 15q13.3 was detected in a multipl...
- The Etruscan timeline: a recent Anatolian connection
[作者：Brisighelli, F; Capelli, C; Alvarez-Iglesias, V; Onofri, V; Paoli, G; Tofanelli, S; Carracedo, A; Pascali, VL; Salas, A,期刊：European Journal of Human Genetics, 页码：693-696 , 文章类型： Article，,卷期：2009年17-5]
- The origin of the Etruscans (the present day Tuscany, Italy), one of the most enigmatic non-Indo-European civilizations, is under intense controversy. We found novel genetic evidences on the mitochondrial DNA (mtDNA) est...
- Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (vol 17, pg 444, 2009)
[作者：Lugtenberg, D; Kleefstra, T; Oudakker, AR; Nillesen, WM; Yntema, HG; Tzschach, A; Raynaud, M; Rating, D; Journel, H; Chelly, J; Goizet, C; Lacombe, D; Pedespan, JM; Echenne, B; Tariverdian, G; O'Rourke, D; King, MD; Green, A; van Kogelenberg, M; Van Esch, H; Gecz, J; Hamel, BCJ; van Bokhoven, H; de Brouwer, APM,期刊：European Journal of Human Genetics, 页码：697-697 , 文章类型： Correction，,卷期：2009年17-5]
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- The expression of type III hyperlipoproteinemia: involvement of lipolysis genes
[作者：Henneman, P; van der Sman-de Beer, F; Moghaddam, PH; Huijts, P; Stalenhoef, AFH; Kastelein, JJP; van Duijn, CM; Havekes, LM; Frants, RR; van Dijk, KW; Smelt, AHM,期刊：European Journal of Human Genetics, 页码：620-628 , 文章类型： Article，,卷期：2009年17-5]
- Type III hyperlipoproteinemia (HLP) is mainly found in homozygous apolipoprotein (APO) E2 (R158C) carriers. Genetic factors contributing to the expression of type III HLP were investigated in 113 hyper- and 52 normolipid...
- MTHFR 677 C > T and 1298 A > C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
[作者：Reeves, SG; Meldrum, C; Groombridge, C; Spigelman, AD; Suchy, J; Kurzawski, G; Lubinski, J; McElduff, P; Scott, RJ,期刊：European Journal of Human Genetics, 页码：629-635 , 文章类型： Article，,卷期：2009年17-5]
- Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome is characterized by inactivating germline mutations in DNA mismatch repair genes resulting in an increased risk of developing an epithelial malignancy....
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