- Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
[作者:Pasini, B; McWhinney, SR; Bei, T; Matyakhina, L; Stergiopoulos, S; Muchow, M; Boikos, SA; Ferrando, B; Pacak, K; Assie, G; Baudin, E; Chompret, A; Ellison, JW; Briere, JJ; Rustin, P; Gimenez-Roqueplo, AP; Eng, C; Carney, JA; Stratakis, CA,期刊:European Journal of Human Genetics, 页码:79-88 , 文章类型: Article,,卷期:2008年16-1]
- Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-alpha (PDGFRA) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine ...
- Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
[作者:Lezirovitz, K; Pardono, E; Auricchio, MTBD; de Carvalho e Silva, FL; Lopes, JJ; Abreu-Silva, RS; Romanos, J; Batissoco, AC; Mingroni-Netto, RC,期刊:European Journal of Human Genetics, 页码:89-96 , 文章类型: Article,,卷期:2008年16-1]
- Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred Br...
- Mental deficiency in three families with SPG4 spastic paraplegia
[作者:Ribaie, P; Depienne, C; Fedirko, E; Jothy, AC; Viveweger, C; Hahn-Barma, V; Brice, A; Durr, A,期刊:European Journal of Human Genetics, 页码:97-104 , 文章类型: Article,,卷期:2008年16-1]
- Mutations and deletions in the SPG4 gene are responsible for up to 40% of autosomal dominant hereditary spastic paraplegia (HSP). Patients have pyramidal signs in the lower limbs and some present additional features incl...
- Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population
[作者:Engert, JC; Lemire, M; Faith, J; Brisson, D; Fujiwara, TM; Roslin, NM; Brewer, CG; Montpetit, A; Darmond-Zwaig, C; Renaud, Y; Dore, C; Bailey, SD; Verner, A; Tremblay, G; St-Pierre, J; Betard, C; Platko, J; Rioux, JD; Morgan, K; Hudson, TJ; Gaudet, D,期刊:European Journal of Human Genetics, 页码:105-114 , 文章类型: Article,,卷期:2008年16-1]
- Susceptibility to coronary heart disease (CHD) has long been known to exhibit familial aggregation, with heritability estimated to be greater than 50%. The French Canadian population of the Saguenay-Lac-Saint-Jean region...
- Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance
[作者:Homsma, SJM; Huijgen, R; Middeldorp, S; Sijbrands, EJG; Kastelein, JJP,期刊:European Journal of Human Genetics, 页码:14-17 , 文章类型: Article,,卷期:2008年16-1]
- In The Netherlands, cascade screening to identify patients with familial hypercholesterolaemia (FH) has been introduced in 1994; a nationwide screening programme is currently ongoing to detect all approximately 40 000 - ...
- 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
[作者:Barber, JCK; Maloney, VK; Huang, S; Bunyan, DJ; Cresswell, L; Kinning, E; Benson, A; Cheetham, T; Wyllie, J; Lynch, SA; Zwolinski, S; Prescott, L; Crow, Y; Morgan, R; Hobson, E,期刊:European Journal of Human Genetics, 页码:18-27 , 文章类型: Article,,卷期:2008年16-1]
- The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families in which 8p23.1 duplications have been directly transmitted ...
- Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
[作者:Morava, E; Lefeber, DJ; Urban, Z; de Meirleir, L; Meinecke, P; Kaesbach, GG; Sykut-Cegielska, J; Adamowicz, M; Salafsky, I; Ranells, J; Lemyre, E; van Reeuwijk, J; Brunner, HG; Wevers, RA,期刊:European Journal of Human Genetics, 页码:28-35 , 文章类型: Article,,卷期:2008年16-1]
- Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cu...
- Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4
[作者:Suzuki, K; Haraguchi, R; Ogata, T; Barbieri, O; Alegria, O; Vieux-Rochas, M; Nakagata, N; Ito, M; Mills, AA; Kurita, T; Levi, G; Yamada, G,期刊:European Journal of Human Genetics, 页码:36-44 , 文章类型: Article,,卷期:2008年16-1]
- Urogenital birth defects are one of the common phenotypes observed in hereditary human disorders. In particular, limb malformations are often associated with urogenital developmental abnormalities, as the case for Hand-f...
- Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
[作者:South, ST; Whitby, H; Battaglia, A; Carey, JC; Brothman, AR,期刊:European Journal of Human Genetics, 页码:45-52 , 文章类型: Article,,卷期:2008年16-1]
- Wolf-Hirschhorn syndrome (WHS) is caused by deletions involving chromosome region 4p16.3. The minimal diagnostic criteria include mild-to-severe mental retardation, hypotonia, growth delay and a distinctive facial appear...
- Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
[作者:Ashton, EJ; Yau, SC; Deans, ZC; Abbs, SJ,期刊:European Journal of Human Genetics, 页码:53-61 , 文章类型: Article,,卷期:2008年16-1]
- We have developed a technique to screen for gross deletions/duplications and point mutations using one streamlined approach. Fluorescent multiplex quantitative PCR is used to determine the copy number of each exon, follo...
- Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
[作者:Krueger, S; Kinzel, M; Walldorf, C; Gottschling, S; Bier, A; Tinschert, S; von Stackelberg, A; Henn, W; Gorgens, H; Boue, S; Kolble, K; Buttner, R; Schackert, HK,期刊:European Journal of Human Genetics, 页码:62-72 , 文章类型: Article,,卷期:2008年16-1]
- Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome. New studies have indicated that biallelic mutations lead to a distinctive syndrome, childhood cancer syndrom...
- Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor
[作者:Lolkema, MP; Mans, DA; Ulfman, LH; Volpi, S; Voest, EE; Giles, RH,期刊:European Journal of Human Genetics, 页码:73-78 , 文章类型: Article,,卷期:2008年16-1]
- Patients with von Hippel-Lindau (VHL) disease often develop VHL-/- kidney cysts, which possibly progress into clear-cell renal carcinomas (ccRCCs). Recent data link the VHL gene product to formation of the primary cilium...
- Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example
[作者:Hanein, S; Perrault, I; Gerber, S; Delphin, N; Benezra, D; Shalev, S; Carmi, R; Feingold, J; Dufier, JL; Munnich, A; Kaplan, J; Rozet, JM; Jeanpierre, M,期刊:European Journal of Human Genetics, 页码:115-123 , 文章类型: Article,,卷期:2008年16-1]
- The mosaic pattern of haplotypes observed around a single mutation results from one or several founder events. The difficulties involved in calculating the age of the variant are greatly reduced by assuming a single even...
- New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East
[作者:Thomas, MG; Barnes, I; Weale, ME; Jones, AL; Forster, P; Bradman, N; Pramstaller, PP,期刊:European Journal of Human Genetics, 页码:124-134 , 文章类型: Article,,卷期:2008年16-1]
- The Alps are one of the most significant geographical barriers in Europe and several isolated Swiss and Italian valleys retain the distinctive Ladin and Romansch languages, alongside the modern majority of Italian and Ge...
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