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2009 Vienna - European Society of Human Genetics

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Keyword Index<br />

DMD: P16.40, P16.41, P16.42, P16.44<br />

DNA damage: P04.03<br />

DNA methylation: P03.054, S13.1<br />

DNA microarray: P08.52<br />

DNA microarrays: P09.041<br />

DNA pooling: P11.123<br />

DNA repair genes: P06.202, P10.18<br />

DNA repair: P06.143<br />

DNA resequencing array: P16.25<br />

DNA sequencing: C13.4, P11.034<br />

DNA-diagnostics: P12.034<br />

DNAI1: C12.6<br />

Docetaxel: P06.073<br />

Dopamin receptor genes: P08.25<br />

dopamine D2 receptor: P09.051<br />

dopamine receptor gene: P10.19<br />

dopamine receptor: P02.076<br />

dopamine: P17.66<br />

double aneuploidy: P03.124<br />

Double heterozygote: P06.032<br />

double ring chromosome 4: P03.107<br />

double translocation: P03.125<br />

Down critical region: P03.021<br />

Down Syndrome: P01.07, P02.106,<br />

P03.018, P03.019, P03.020, P03.021,<br />

P03.148, P06.005<br />

Down’s syndrome screening: P05.25<br />

DQ2, DQ8: P12.029<br />

DQA1 and DQB1: P04.25<br />

drift: P08.19<br />

drug addiction: P08.26<br />

Duchenne/Becker muscular dystrophy:<br />

P16.43<br />

duplication 11p11.2: P03.131<br />

Duplication 16p13.3: P02.148<br />

duplication 3p25.3: P03.083<br />

duplication 9p: P03.136<br />

Duplication Xp22.12: P02.196<br />

duplication: P02.179<br />

dynamin 2: P16.38<br />

dynein arms: P12.036<br />

dyskeratosis congenita: P02.034<br />

Dyskinesia, PED: P13.21<br />

dyskinesia: P17.54<br />

Dyslipidemia: P17.48<br />

dysmorphic face: P02.051<br />

dysmorphic featureas: P03.116<br />

dysmorphism: P03.114<br />

Dysmorphology: P01.08, P01.09, P01.10,<br />

P02.069, P03.113<br />

dystonia: P02.202<br />

dystroglycanopathies: C14.2<br />

Dystrophic epidermolysis bullosa: P12.055<br />

dystrophinopathy: P16.44<br />

DYT12: P17.62<br />

E<br />

E2 protein: P11.058<br />

early development <strong>of</strong> liver failure: P12.008<br />

Early Infantile Epileptic Encephalopathy:<br />

P12.124<br />

early onset hearing loss: P02.035<br />

Early-diagnosis: P06.104<br />

East Asia: P01.06<br />

east azerbaijan population: P10.75<br />

E-cadherin mutation: P06.045<br />

economic analysis: P06.124<br />

Ecotilling: P10.05<br />

ectodermal dysplasia: P02.169<br />

EDARADD: P12.017<br />

Education: C18.5, P01.09, P01.11, P01.12,<br />

P01.25, P01.43<br />

Effects on chromosomes: P03.043<br />

Efferocytosis: P08.17<br />

efficacy <strong>of</strong> omeprazole: P08.23<br />

EFNB1: C04.6, P02.168<br />

Ehlers-Danlos syndrome: P12.039<br />

ELA2: P12.045<br />

elastin: P03.184<br />

electrophoresis: P08.65<br />

Ellis van Creveld: P02.169<br />

ELN: P03.182<br />

Emanuel syndrome: C16.1, P03.178<br />

embryo development: P04.32<br />

embryonic pattern formation: S15.3<br />

Embryos: P05.45, S09.1<br />

EMMA: P12.157<br />

emotional regulation: C18.1<br />

EMT: P06.087<br />

ENAC: P12.027<br />

end stage renal disease: P08.01<br />

Endometrial cancer: P06.152<br />

endometriosis: P04.04, P10.20, P12.118<br />

endometrium: P06.206<br />

Endothelial function: P14.03<br />

Endothelial Nitric Oxide Synthase: P10.21<br />

endurance: P09.044<br />

eNOS G894T: P17.19<br />

eNOS gene: P16.31<br />

eNOS: P10.01, P10.22<br />

ENPP1: P08.27<br />

enrichment: P11.035, P11.086, PL2.2<br />

Enzyme replacement therapy: P13.38,<br />

P14.08, P14.13<br />

enzyme-free: P14.05<br />

EPCAM: P06.145<br />

Eph receptor tyrosine kinase: P12.020<br />

EPHA2: P12.020<br />

epidemiological study: P02.045<br />

epidemiology: P10.25, P10.67, P16.35<br />

Epidermodysplasia verruciformis: P12.056<br />

epidermolysis bullosa: C12.5, P02.036<br />

epigenetic silencing: P06.084<br />

epigenetic: C12.1, P01.39, P06.128<br />

epigenetics: P11.068, S02.1<br />

epilepsy: C02.2, P02.183, P03.083,<br />

P03.094, P03.107, P03.126, P17.63,<br />

P17.65, P17.66, P17.67, P17.68<br />

Epileptic encephalopathy: P02.189<br />

epimutation: C08.5<br />

epistasis: C05.3<br />

EPM1-Unverricht-Lundborg disease (ULD):<br />

P17.64<br />

EQA: P15.12<br />

eQTLs: S12.2<br />

ERCC2 gene: P06.129<br />

eRF3 – 12 GGC allele: P06.137<br />

ERT: C12.4<br />

esophageal atresia: P02.037<br />

esophageal cancer: P06.006<br />

esophageal reflux: P03.138<br />

ESRD: P09.076<br />

essential hypertension: P05.19<br />

estrogen receptor alpha: P06.139<br />

Estrogen Receptor beta: P06.179<br />

ethics: P01.13, P01.14, P05.46<br />

Ethnic groups <strong>of</strong> Siberian region: P10.28<br />

ethnic groups: P10.14<br />

Etiology: P02.070<br />

ETV6: P06.168<br />

eugenics: P01.15<br />

Eurogentest: P15.12<br />

EVC: P02.169<br />

EVI1: P06.173<br />

Evidence-based: P01.10<br />

evolution: P01.12, P11.079, PL3.2<br />

Ewing’s carcoma: P06.033<br />

excessive sweating: P02.016<br />

exonic splicing enhancer: P11.063<br />

exposed soldiers: P03.043<br />

expression level analysis: P17.06<br />

expression: P02.168, P06.133, P11.100<br />

EXT1: P13.26<br />

EXT2: P13.26<br />

external quality assessment scheme:<br />

P15.10<br />

external quality assessment: C02.6<br />

extracellular matrix proteins: P11.036<br />

Extreme nephromegaly: P05.43<br />

Extreme Noth-Eastern Eurasia: P10.60<br />

eye malformations: P03.017<br />

F<br />

Fabry disease: P13.12, P13.13<br />

Fabry: P13.11<br />

facial dysmorphy: P03.115<br />

Facioscapulohumeral dystrophy: P11.037<br />

Facioscapulohumeral muscular dystrophy

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