- Alagille syndrome: pathogenesis, diagnosis and management
[作者：Turnpenny, PD; Ellard, S,期刊：European Journal of Human Genetics, 页码：251-257 , 文章类型： Article，,卷期：2012年20-3]
- Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a smal...
- Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome
[作者：Glaudemans, B; Yntema, HG; San-Cristobal, P; Schoots, J; Pfundt, R; Kamsteeg, EJ; Bindels, RJ; Knoers, NVAM; Hoenderop, JG; Hoefsloot, LH,期刊：European Journal of Human Genetics, 页码：263-270 , 文章类型： Article，,卷期：2012年20-3]
- Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the ...
- Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
[作者：Braunholz, D; Hullings, M; Gil-Rodriguez, MC; Fincher, CT; Mallozzi, MB; Loy, E; Albrecht, M; Kaur, M; Limon, J; Rampuria, A; Clark, D; Kline, A; Dalski, A; Eckhold, J; Tzschach, A; Hennekam, R; Gillessen-Kaesbach, G; Wierzba, J; Krantz, ID; Deardorff, MA; Kaiser, FJ,期刊：European Journal of Human Genetics, 页码：271-276 , 文章类型： Article，,卷期：2012年20-3]
- Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb...
- First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis
[作者：Pasmant, E; Goussard, P; Baranes, L; Laurendeau, I; Quentin, S; Ponsot, P; Consigny, Y; Farges, O; Condat, B; Vidaud, D; Vidaud, M; Chen, JM; Parfait, B,期刊：European Journal of Human Genetics, 页码：277-282 , 文章类型： Article，,卷期：2012年20-3]
- The wide clinical spectrum of the ABCB4 gene (ATP-binding cassette subfamily B member 4) deficiency syndromes in humans includes low phospholipid-associated cholelithiasis (LPAC), intrahepatic cholestasis of pregnancy (I...
- Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes
[作者：Kim, SJ; Miller, JL; Kuipers, PJ; German, JR; Beaudet, AL; Sahoo, T; Driscoll, DJ,期刊：European Journal of Human Genetics, 页码：283-290 , 文章类型： Article，,卷期：2012年20-3]
- Prader Willi syndrome (PWS) is a multisystem, contiguous gene disorder caused by an absence of paternally expressed genes within the 15q11.2-q13 region via one of the three main genetic mechanisms: deletion of the patern...
- ALK germline mutations in patients with neuroblastorna: a rare and weakly penetrant syndrome
[作者：Bourdeaut, F; Ferrand, S; Brugieres, L; Hilbert, M; Ribeiro, A; Lacroix, L; Benard, J; Combaret, V; Michon, J; Valteau-Couanet, D; Isidor, B; Rialland, X; Poiree, M; Defachelles, AS; Peuchmaur, M; Schleiermacher, G; Pierron, G; Gauthier-Villars, M; Janoueix-Lerosey, I; Delattre, O,期刊：European Journal of Human Genetics, 页码：291-297 , 文章类型： Article，,卷期：2012年20-3]
- Neuroblastic tumours may occur in a predisposition context. Two main genes are involved: PHOX2B, observed in familial cases and frequently associated with other neurocristopathies (Ondine's and Hirschsprung's disease); a...
- Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts
[作者：Veenma, D; Brosens, E; de Jong, E; van de Ven, C; Meeussen, C; Cohen-Overbeek, T; Boter, M; Eussen, H; Douben, H; Tibboel, D; de Klein, A,期刊：European Journal of Human Genetics, 页码：298-304 , 文章类型： Article，,卷期：2012年20-3]
- The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of ev...
- Underexpression and abnormal localization of ATM products in,ataxia telangiectasia patients bearing ATM missense mutations
[作者：Jacquemin, V; Rieunier, G; Jacob, S; Bellanger, D; d'Enghien, CD; Lauge, A; Stoppa-Lyonnet, D; Stern, MH,期刊：European Journal of Human Genetics, 页码：305-312 , 文章类型： Article，,卷期：2012年20-3]
- Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immune defects and predisposition to malignancies. A-T is caused by bialle...
- Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists
[作者：Herrera, KJ; Lowery, RK; Hadden, L; Calderon, S; Chiou, C; Yepiskoposyan, L; Regueiro, M; Underhill, PA; Herrera, RJ,期刊：European Journal of Human Genetics, 页码：313-320 , 文章类型： Article，,卷期：2012年20-3]
- Armenia, situated between the Black and Caspian Seas, lies at the junction of Turkey, Iran, Georgia, Azerbaijan and former Mesopotamia. This geographic position made it a potential contact zone between Eastern and Wester...
- Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis
[作者：Babron, MC; Perdry, H; Handel, AE; Ramagopalan, SV; Damotte, V; Fontaine, B; Muller-Myhsok, B; Ebers, GC; Cerget-Darpoux, F,期刊：European Journal of Human Genetics, 页码：321-325 , 文章类型： Article，,卷期：2012年20-3]
- Genome-wide association studies (GWAS), although efficient to detect genes involved in complex diseases, are not designed to measure the real effect of the genes. This is illustrated here by the example of IL2RA in multi...
- Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata
[作者：Forstbauer, LM; Brockschmidt, FF; Moskvina, V; Herold, C; Redler, S; Herzog, A; Hillmer, AM; Meesters, C; Heilmann, S; Albert, F; Alblas, M; Hanneken, S; Eigelshoven, S; Giehl, KA; Jagielska, D; Blume-Peytavi, U; Bartels, NG; Kuhn, J; Hennies, HC; Goebeler, M; Jung, A; Peitsch, WK; Kortum, AK; Moll, I; Kruse, R; Lutz, G; Wolff, H; Blaumeiser, B; Bohm, M; Kirov, G; Becker, T; Nothen, MM; Betz, RC,期刊：European Journal of Human Genetics, 页码：326-332 , 文章类型： Article，,卷期：2012年20-3]
- Alopecia areata (AA) is a common hair loss disorder, which is thought to be a tissue-specific autoimmune disease. Previous research has identified a few AA susceptibility genes, most of which are implicated in autoimmuni...
- Genome-wide association study of coronary artery disease in the Japanese
[作者：Takeuchi, F; Yokota, M; Yamamoto, K; Nakashima, E; Katsuya, T; Asano, H; Isono, M; Nabika, T; Sugiyama, T; Fujioka, A; Awata, N; Ohnaka, K; Nakatochi, M; Kitajima, H; Rakugi, H; Nakamura, J; Ohkubo, T; Imai, Y; Shimamoto, K; Yamori, Y; Yamaguchi, S; Kobayashi, S; Takayanagi, R; Ogihara, T; Kato, N,期刊：European Journal of Human Genetics, 页码：333-340 , 文章类型： Article，,卷期：2012年20-3]
- A new understanding of the genetic basis of coronary artery disease (CAD) has recently emerged from genome-wide association (GWA) studies of common single-nucleotide polymorphisms (SNPs), thus far performed mostly in Eur...
- Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts
[作者：Lopez, LM; Harris, SE; Luciano, M; Liewald, D; Davies, G; Gow, AJ; Tenesa, A; Payton, A; Ke, XY; Whalley, LJ; Fox, H; Haggerty, P; Ollier, W; Pickles, A; Porteous, DJ; Horan, MA; Pendleton, N; Starr, JM; Deary, IJ,期刊：European Journal of Human Genetics, 页码：341-347 , 文章类型： Article，,卷期：2012年20-3]
- Genetic influences have an important role in the ageing process. The genetic factors that influence success in bodily ageing may also contribute to the successful ageing of cognitive abilities. A comparative genomics app...
- A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
[作者：White, S; Hewitt, J; Turbitt, E; van der Zwan, Y; Hersmus, R; Drop, S; Koopman, P; Harley, V; Cools, M; Looijenga, L; Sinclair, A,期刊：European Journal of Human Genetics, 页码：348-351 , 文章类型： Article，,卷期：2012年20-3]
- Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation...
- Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
[作者：Delphin, N; Hanein, S; Taie, LF; Zanlonghi, X; Bonneau, D; Moisan, JP; Boyle, C; Nitschke, P; Pruvost, S; Bonnefont, JP; Munnich, A; Roche, O; Kaplan, J; Rozet, JM,期刊：European Journal of Human Genetics, 页码：352-356 , 文章类型： Article，,卷期：2012年20-3]
- X-linked retinal dystrophies (XLRD) are listed among the most severe RD owing to their early onset, leading to significant visual loss before the age of 30. One-third of XLRD are accounted for by RP2 mutations at the Xp1...
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