- Kallmann syndrome
[作者：Dode, C; Hardelin, JP,期刊：European Journal of Human Genetics, 页码：139-146 , 文章类型： Article，,卷期：2009年17-2]
- The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for...
- The mutation spectrum in RECQL4 diseases
[作者：Siitonen, HA; Sotkasiira, J; Biervliet, M; Benmansour, A; Capri, Y; Cormier-Daire, V; Crandall, B; Hannula-Jouppi, K; Hennekam, R; Herzog, D; Keymolen, K; Lipsanen-Nyman, M; Miny, P; Plon, SE; Riedl, S; Sarkar, A; Vargas, FR; Verloes, A; Wang, LL; Kaariainen, H; Kestila, M,期刊：European Journal of Human Genetics, 页码：151-158 , 文章类型： Article，,卷期：2009年17-2]
- Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and r...
- Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A > G of MSH2
[作者：Kets, CM; Hoogerbrugge, N; van Krieken, JHJM; Goossens, M; Brunner, HG; Ligtenberg, MJL,期刊：European Journal of Human Genetics, 页码：159-164 , 文章类型： Article，,卷期：2009年17-2]
- Mono-allelic germline mutations in mismatch repair (MMR) genes lead to Lynch syndrome, an autosomal dominant syndrome with an increased risk of predominantly colorectal and endometrial cancers. Bi-allelic germline mutati...
- Meta-analysis of genome-wide linkage studies across autoimmune diseases
[作者：Forabosco, P; Bouzigon, E; Ng, MY; Hermanowski, J; Fisher, SA; Criswell, LA; Lewis, CM,期刊：European Journal of Human Genetics, 页码：236-243 , 文章类型： Article，,卷期：2009年17-2]
- Autoimmune diseases are chronic disorders initiated by a loss of immunologic tolerance to self-antigens. They cluster within families, and patients may be diagnosed with more than one disease, suggesting pleiotropic gene...
- The E-cadherin (CDH1)-160 C/A polymorphism and prostate cancer risk: a meta-analysis
[作者：Qiu, LX; Li, RT; Zhang, JB; Zhong, WZ; Bai, JL; Liu, BR; Zheng, MH; Qian, XP,期刊：European Journal of Human Genetics, 页码：244-249 , 文章类型： Article，,卷期：2009年17-2]
- Published data on the association between E-cadherin (CDH1) -160 C/A polymorphism and prostate cancer (PCA) risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. A...
- Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study)
[作者：Roten, LT; Johnson, MP; Forsmo, S; Fitzpatrick, E; Dyer, TD; Brennecke, SP; Blangero, J; Moses, EK; Austgulen, R,期刊：European Journal of Human Genetics, 页码：250-257 , 文章类型： Article，,卷期：2009年17-2]
- Genome-wide scans in Icelandic, Australian/New Zealand and Finnish pedigrees have provided evidence for maternal susceptibility loci for pre-eclampsia on chromosome 2, although at different positions (Iceland: 2p13 and 2...
- Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects
[作者：Sammalisto, S; Hiekkalinna, T; Schwander, K; Kardia, S; Weder, AB; Rodriguez, BL; Doria, A; Kelly, JA; Bruner, GR; Harley, JB; Redline, S; Larkin, EK; Patel, SR; Ewan, AJH; Weber, JL; Perola, M; Peltonen, L,期刊：European Journal of Human Genetics, 页码：258-266 , 文章类型： Article，,卷期：2009年17-2]
- Stature (adult body height) and body mass index (BMI) have a strong genetic component explaining observed variation in human populations; however, identifying those genetic components has been extremely challenging. It s...
- PTCH1 duplication in a family with microcephaly and mild developmental delay
[作者：Derwinska, K; Smyk, M; Cooper, ML; Bader, P; Cheung, SW; Stankiewicz, P,期刊：European Journal of Human Genetics, 页码：267-271 , 文章类型： Article，,卷期：2009年17-2]
- With the exception of the X chromosome, genomic deletions appear to be more prevalent than duplications. Because of a lack of accurate diagnostic methods, submicroscopic duplications have been under-ascertained for a lon...
- Long-term outcome of presymptomatic testing in Huntington disease
[作者：Gargiulo, M; Lejeune, S; Tanguy, ML; Lahlou-Laforet, K; Faudet, A; Cohen, D; Feingold, J; Durr, A,期刊：European Journal of Human Genetics, 页码：165-171 , 文章类型： Article，,卷期：2009年17-2]
- Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological well-being and social adjustment of carriers and non-carriers of the mutation, and the ide...
- A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives
[作者：Zhu, HY; Wang, SW; Liu, L; Li, YH; Chen, R; Wang, L; Holliman, CJ,期刊：European Journal of Human Genetics, 页码：172-178 , 文章类型： Article，,卷期：2009年17-2]
- The left ventricular hypertrophy (LVH) is one of the most important organ damage targets in hypertension. Despite the involvement of multiple factors, the genetic factors have been shown to have an important function in ...
- A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications
[作者：Bonaglia, MC; Giorda, R; Massagli, A; Galluzzi, R; Ciccone, R; Zuffardi, O,期刊：European Journal of Human Genetics, 页码：179-186 , 文章类型： Article，,卷期：2009年17-2]
- We studied a family in which the same 10 Mb inverted duplication of 2p25.3-p25.1 segregates in two children and their father, all showing a trisomy phenotype. As FISH analysis demonstrated that the duplication was invert...
- Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia
[作者：Shoukier, M; Neesen, J; Sauter, SM; Argyriou, L; Doerwald, N; Pantakani, DVK; Mannan, AU,期刊：European Journal of Human Genetics, 页码：187-194 , 文章类型： Article，,卷期：2009年17-2]
- The SPAST gene encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP). In this study, we attempted to expand and refine the genetic and phe...
- Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate
[作者：Chiquet, BT; Hashmi, SS; Henry, R; Burt, A; Mulliken, JB; Stal, S; Bray, M; Blanton, SH; Hecht, JT,期刊：European Journal of Human Genetics, 页码：195-204 , 文章类型： Article，,卷期：2009年17-2]
- Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth anomaly that requires prolonged multidisciplinary rehabilitation. Although variation in several genes has been identified as contributing to N...
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