- ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
[作者：Kitiratschky, VBD; Grau, T; Bernd, A; Zrenner, E; Jagle, H; Renner, AB; Kellner, U; Rudolph, G; Jacobson, SG; Cideciyan, AV; Schaich, S; Kohl, S; Wissinger, B,期刊：European Journal of Human Genetics, 页码：812-819 , 文章类型： Article，,卷期：2008年16-7]
- The ATP-binding cassette (ABC) transporters constitute a family of large membrane proteins, which transport a variety of substrates across membranes. The ABCA4 protein is expressed in photoreceptors and possibly function...
- Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach
[作者：Tischkowitz, M; Hamel, N; Carvalho, MA; Birrane, G; Soni, A; van Beers, EH; Joosse, SA; Wong, N; Novak, D; Quenneville, LA; Grist, SA; Nederlof, PM; Goldgar, DE; Tavtigian, SV; Monteiro, AN; Ladias, JAA; Foulkes, WD,期刊：European Journal of Human Genetics, 页码：820-832 , 文章类型： Article，,卷期：2008年16-7]
- A number of germ-line mutations in the BRCA1 gene confer susceptibility to breast and ovarian cancer. However, it remains difficult to determine whether many single amino-acid (missense) changes in the BRCA1 protein that...
- Mapping of a Hirschsprung's disease locus in 3p21
[作者：Garcia-Barcelo, MM; Fong, PY; Tang, CS; Miao, XP; So, MT; Yuan, ZW; Li, L; Guo, WH; Liu, L; Wang, B; Sun, XB; Huang, LM; Tou, JF; Wong, KKY; Ngan, ESW; Lui, VCH; Cherny, SS; Sham, PC; Tam, PKH,期刊：European Journal of Human Genetics, 页码：833-840 , 文章类型： Article，,卷期：2008年16-7]
- Hirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene,...
- Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
[作者：Craig, K; Takiyama, Y; Soong, BW; Jardim, LB; Saraiva-Pereira, ML; Lythgow, K; Morino, H; Maruyama, H; Kawakami, H; Chinnery, PF,期刊：European Journal of Human Genetics, 页码：841-847 , 文章类型： Article，,卷期：2008年16-7]
- Spinocerebellar ataxia type 6 (SCA6) is a common cause of dominantly inherited ataxia due to an expansion of the CAG repeat in the CACNA1A gene. Affected individuals from the same population share a common haplotype, rai...
- The Tunisian population history through the Crigler-Najjar type I syndrome
[作者：Petit, FM; Bezieau, S; Gajdos, V; Parisot, F; Scoul, C; Capel, L; Stozinic, V; Khrouf, N; M'Rad, R; Koshy, A; Mollet-Boudjemline, A; Francoual, J; Labrune, P,期刊：European Journal of Human Genetics, 页码：848-853 , 文章类型： Article，,卷期：2008年16-7]
- Crigler-Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation c.1070A>G in exon 3 - was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of ...
- IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk
[作者：Martinez, A; Santiago, JL; Cenit, MC; de las Heras, V; de la Calle, H; Fernandez-Arquero, M; Arroyo, R; de la Concha, EG; Urcelay, E,期刊：European Journal of Human Genetics, 页码：861-864 , 文章类型： Article，,卷期：2008年16-7]
- A recent genome-wide scan of nonsynonymous SNPs and ulterior validation in case-control and family analyses evidenced a susceptibility locus for type 1 diabetes (T1D) on chromosome 2q24.3. We aimed at testing the effect ...
- Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome
[作者：Leroy, C; Fouveaut, C; Leclercq, S; Jacquemont, S; Du Boullay, H; Lespinasse, J; Delpech, M; Dupont, JM; Hardelin, JP; Dode, C,期刊：European Journal of Human Genetics, 页码：865-868 , 文章类型： Article，,卷期：2008年16-7]
- Kallmann syndrome is a developmental disease that combines hypogonadotropic hypogonadism and anosmia. Putative loss-of-function mutations in PROKR2 or PROK2, encoding prokineticin receptor-2 (a G protein-coupled receptor...
- Establishment of a biobank and pharmacogenetics database of African populations
[作者：Matimba, A; Oluka, MN; Ebeshi, BU; Sayi, J; Bolaji, OO; Guantai, AN; Masimirembwa, CM,期刊：European Journal of Human Genetics, 页码：780-783 , 文章类型： Letter，,卷期：2008年16-7]
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- The human pseudoautosomal regions: a review for genetic epidemiologists
[作者：Flaquer, A; Rappold, GA; Wienker, TF; Fischer, C,期刊：European Journal of Human Genetics, 页码：771-779 , 文章类型： Review，,卷期：2008年16-7]
- Two intervals of sequence identity at the tips of X and Y chromosomes, the human pseudoautosomal regions PAR1 and PAR2, have drawn interest from researchers in human genetics, cytogenetics, and evolutionary biology. Howe...
- Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
[作者：Zhang, ZF; Ruivenkamp, C; Staaf, J; Zhu, HB; Barbaro, M; Petillo, D; Khoo, SK; Borg, A; Fan, YS; Schoumans, J,期刊：European Journal of Human Genetics, 页码：786-792 , 文章类型： Article，,卷期：2008年16-7]
- For several decades etiological diagnosis of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA) has relied on chromosome analysis by karyotyping. Conventional karyotyping allows a ge...
- Revised spectrum of mutations in sarcoglycanopathies
[作者：Trabelsi, M; Kavian, N; Daoud, F; Commere, V; Deburgrave, N; Beugnet, C; Llense, S; Barbot, JC; Vasson, A; Kaplan, JC; Leturcq, F; Chelly, J,期刊：European Journal of Human Genetics, 页码：793-803 , 文章类型： Article，,卷期：2008年16-7]
- To define the spectrum of mutations in alpha-, beta-, gamma-, and delta- sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal rec...
- Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
[作者：Morak, M; Schackert, HK; Rahner, N; Betz, B; Ebert, M; Walldorf, C; Royer-Pokora, B; Schulmann, K; von Knebel-Doeberitz, M; Dietmaier, W; Keller, G; Kerker, B; Leitner, G; Holinski-Feder, E,期刊：European Journal of Human Genetics, 页码：804-811 , 文章类型： Article，,卷期：2008年16-7]
- Germline mutations in mismatch repair (MMR) genes, tumours with high microsatellite instability (MSI-H) and loss of MMR protein expression are the hallmarks of HNPCC (Lynch syndrome). While somatic MLH1 promoter hypermet...
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