- p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
[作者：Kroos, MA; Mullaart, RA; Van Vliet, L; Pomponio, RJ; Amartino, H; Kolodny, EH; Pastores, GM; Wevers, RA; Van der Ploeg, AT; Halley, DJJ; Reuser, AJJ,期刊：European Journal of Human Genetics, 页码：875-879 , 文章类型： Article，,卷期：2008年16-8]
- We discuss four cases of acid alpha-glucosidase deficiency (EC, 3.2.1.3/20) without evident symptoms of Pompe disease (OMIM No 232300) in individuals of Asian descent. In three cases, the deficiency was associated with h...
- Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion
[作者：Torniero, C; Bernardina, BD; Novara, F; Cerini, R; Bonaglia, C; Pramparo, T; Ciccone, R; Guerrini, R; Zuffardi, O,期刊：European Journal of Human Genetics, 页码：880-887 , 文章类型： Article，,卷期：2008年16-8]
- We report a patient with mild pachygyria, ascertained during a screening of subjects with abnormal neuronal migration and/or epilepsy, having a 7q11.23 duplication reciprocal to the Williams-Beuren critical region (WBCR)...
- A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss
[作者：Pera, A; Villamar, M; Vinuela, A; Gandia, M; Meda, C; Moreno, F; Hernandez-Chico, C,期刊：European Journal of Human Genetics, 页码：888-896 , 文章类型： Article，,卷期：2008年16-8]
- Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 gene. Both disorders are recessive, and yet only one m...
- Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1)
[作者：Giorda, R; Bonaglia, MC; Milani, G; Baroncini, A; Spada, F; Beri, S; Menozzi, G; Rusconi, M; Zuffardi, O,期刊：European Journal of Human Genetics, 页码：897-905 , 文章类型： Article，,卷期：2008年16-8]
- X chromosome inactivation involves initiation, propagation, and maintenance of gene inactivation. Studies of replication pattern and timing in X; autosome translocations have suggested that X inactivation may spread to a...
- In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia
[作者：Trip, J; Drost, G; Verbove, DJ; van der Kooi, AJ; Kuks, JBM; Notermans, NC; Verschuuren, JJ; de Visser, M; van Engelen, BG; Faber, CG; Ginjaar, IB,期刊：European Journal of Human Genetics, 页码：921-929 , 文章类型： Article，,卷期：2008年16-8]
- Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A. The purpose of the present study was to optimize the genetic characterization of NDM in The Netherlands by analysing CLCN1 and SCN4A in tandem. A...
- Unaffected patients with a homozygous absence of the SMN1 gene
[作者：Jedrzejowska, M; Borkowska, J; Zimowski, J; Kostera-Pruszczyk, A; Milewski, M; Jurek, M; Sielska, D; Kostyk, E; Nyka, W; Zaremba, J; Hausmanowa-Petrusewicz, I,期刊：European Journal of Human Genetics, 页码：930-934 , 文章类型： Article，,卷期：2008年16-8]
- In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of four siblings: two affec...
- How much is too much? Phenotypic consequences of Rai1 overexpression in mice
[作者：Girirajan, S; Patel, N; Slager, RE; Tokarz, ME; Bucan, M; Wiley, JL; Elsea, SH,期刊：European Journal of Human Genetics, 页码：941-954 , 文章类型： Article，,卷期：2008年16-8]
- The retinoic acid induced 1 (RAI1) gene when deleted or mutated results in Smith-Magenis syndrome (SMS), while duplication of 17p11.2, including RAI1, results in the dup(17)(p11.2) syndrome characterized by mental retard...
- Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis
[作者：Abboud, S; Viiri, LE; Lutjohann, D; Goebeler, S; Luoto, T; Friedrichs, S; Desfontaines, P; Gazagnes, MD; Laloux, P; Peeters, A; Seeldrayers, P; Lehtimaki, T; Karhunen, P; Pandolfo, M; Laaksonen, R,期刊：European Journal of Human Genetics, 页码：955-960 , 文章类型： Article，,卷期：2008年16-8]
- The apolipoprotein E (APOE) epsilon 4 allele is associated with elevated cholesterol and risk of atherosclerosis. However, its role in ischemic stroke (IS) remains controversial. We investigated a possible link between I...
- Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome
[作者：Anttonen, AK; Siintola, E; Tranebjaerg, L; Iwata, NK; Bijlsma, EK; Meguro, H; Ichikawa, Y; Goto, J; Kopra, O; Lehesjoki, AE,期刊：European Journal of Human Genetics, 页码：961-969 , 文章类型： Article，,卷期：2008年16-8]
- Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessively inherited neurodegenerative disorder characterized by cerebellar ataxia, cataracts, mental retardation, and progressive myopathy. Recently, mutations in th...
- A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3
[作者：Willaert, A; Van Pottelbergh, I; Zmierczak, H; Goemaere, S; Kaufman, JM; De Paepe, A; Coucke, P,期刊：European Journal of Human Genetics, 页码：970-976 , 文章类型： Article，,卷期：2008年16-8]
- Osteoporotic fractures are an increasing cause of mortality and morbidity in ageing populations. A major risk determinant for these fractures is bone mineral density (BMD). Variation on BMD is thought, on the basis of tw...
- Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
[作者：Skinningsrud, B; Husebye, ES; Gervin, K; Lovas, K; Blomhoff, A; Wolff, AB; Kemp, EH; Egeland, T; Undlien, DE,期刊：European Journal of Human Genetics, 页码：977-982 , 文章类型： Article，,卷期：2008年16-8]
- The tyrosine-protein phosphatase non-receptor type 22 (PTPN22) gene was recently identified as an important genetic susceptibility factor in several autoimmune diseases. The increased risk has been broadly explained by t...
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