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2009 Vienna - European Society of Human Genetics

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Keyword Index<br />

CSVD: P17.22<br />

CTG repeats: P16.52, P16.53<br />

CTHM conotruncal malformations: P11.030<br />

CTLA-4: P09.077<br />

CTLA4: P17.02<br />

CTSK gene mutations: P02.159<br />

cultural competence: P01.04<br />

Culture: P06.196<br />

cutaneous squamous cell carcinoma:<br />

P06.054<br />

cutis laxa: C08.4<br />

Cx26: P12.122<br />

Cx32: P16.36<br />

CXORF5: P12.125<br />

CYBB gene: P12.049<br />

CYBB: P12.031<br />

cyclobutane pyrimidine dimers (CPDs):<br />

P06.086<br />

Cyclooxygenase-2: P06.067<br />

CYLD ubiquitin hydrolase: P11.031<br />

Cylindromatosis: P11.031<br />

CYP 21 mutations: P12.040<br />

CYP17 gene: P17.41<br />

CYP1A1, GSTM1, GSTP1: P06.010<br />

CYP1B1: P06.072, P12.070<br />

CYP21A2 genotyping: P05.10<br />

CYP21A2: P12.050, P13.07<br />

CYP2C19: P10.16<br />

CYP2C9: P10.86, P17.23<br />

CYP2D6: P08.22<br />

CYP2E1: P06.142<br />

Cyprus: P01.04<br />

Cystadenoma <strong>of</strong> the ovary: P06.048<br />

cystatin B gene: P17.64<br />

cystic fibrosis: P01.37, P02.030, P02.118,<br />

P02.120, P02.121, P02.124, P02.125,<br />

P02.126, P02.127, P02.128, P02.129,<br />

P02.130, P05.40, P09.085, P12.027,<br />

P14.06, P15.03<br />

cytochrome P450 2C19: P08.23<br />

Cytochrome P450: P06.011<br />

Cytogenetic analysis: P03.053<br />

cytogenetic causes: P03.032<br />

Cytogenetic effects: P07.02<br />

cytogenetic: P01.36<br />

cytogenetical response: P06.191<br />

cytogenetics: C02.6, P03.009, P03.010,<br />

P03.013, P03.033, P03.123, P04.21,<br />

P04.22, P06.192, P06.197, P07.10,<br />

P10.12<br />

cytokine gene polymorphism: P08.24<br />

Cytokine genes: P06.030<br />

Cytokine genotyping: P09.050<br />

cytokine: P09.118<br />

cytokines genes: P10.33<br />

cytokines: P11.120<br />

cytotrophoblast: P05.07<br />

D<br />

D5S818: P10.71<br />

D7S870: P10.71<br />

Dandy Walker malformation: P05.11<br />

DARS2: P02.203<br />

Data Integration: P11.009<br />

database: P15.13<br />

Databases: C15.5<br />

DBA: P12.054<br />

DCM: P16.21<br />

DCN: P06.093<br />

DDX3Y gene expression: P06.025<br />

deafness: P02.115, P10.17, P10.34,<br />

P11.032, P12.051, P12.052, P12.069<br />

deep sequence: C01.1<br />

deep sequencing: C01.2<br />

defensin: P09.040<br />

Defensins: P08.50<br />

del 2q22.1q22.3: P03.067<br />

del 2qter: P03.167<br />

del Xp11.4: P02.084<br />

del(15): P03.102<br />

del(4)(q25-q27): P03.133<br />

del7p: P03.092<br />

del7q21.3: P03.071<br />

del9q: P03.069<br />

deletion 11q: P03.129<br />

deletion 13q: P03.139, P14.07<br />

deletion 17p: P02.062<br />

deletion 18q: P14.07<br />

deletion 1q44: P03.093<br />

deletion 21q22: P03.078<br />

deletion 6p25.3-p24.3: P03.070<br />

deletion 8p12p21: P03.103<br />

Deletion allele: P17.24<br />

Deletion <strong>of</strong> 7.9 Mb: P03.102<br />

deletion/duplication 8p: P03.094<br />

deletion: P12.160<br />

delition x: P03.202<br />

delta-thalassemia: P12.073<br />

demethylation: C11.5<br />

Dendrosome: P14.09<br />

dental practice: P01.30<br />

dental students: P01.30<br />

Department <strong>of</strong> Medical <strong>Genetics</strong>: P01.05<br />

depression: P10.84<br />

Desmocollin-2: P16.09<br />

Desmoglein-2: P16.10, P16.18<br />

desmosome: P02.014<br />

detoxifing enzymes: P09.001<br />

Developing Countries: P01.32<br />

development abnormalities: P05.16<br />

developmental brain defects: P02.112<br />

developmental delay / MCA syndrome:<br />

P03.082<br />

developmental delay: P03.125<br />

DFN: P11.032<br />

DFN3: P12.076<br />

DFNB1: P12.053<br />

DFNB3: P02.043<br />

DFNB59: P10.17<br />

DFNB63: C14.3<br />

DGUOK gene: P13.10<br />

Dh10b: P11.126<br />

DHPLC: P02.132, P09.045, P15.08<br />

DIA1: P12.111<br />

Diabetes Mellitus type 2: P09.059<br />

diabetes mellitus: P09.076<br />

diabetes type1: P09.105<br />

diabetes: P08.01, P13.46, P17.05<br />

diabetogenic stimulation: P09.041<br />

Diagnosis: P01.08, P03.019, P03.171,<br />

P12.018<br />

diagnostic algorithm: P03.015<br />

diagnostic strategies: C13.5<br />

Diagnostic: P09.049, P15.14<br />

Diagnostics: P11.008, P12.064, P12.136,<br />

P17.49<br />

Dialysis: P10.18<br />

Diamond-Blackfan anemia: P11.033,<br />

P12.054<br />

DIAPH2: P09.099<br />

Diaphanospondylodysostosis: P02.164<br />

Differential diagnosis: P06.098<br />

differential screening: P11.014<br />

differentiated thyroid cancer: P06.031<br />

diffuse astrocytoma: P07.03<br />

diffuse large B-cell lymphoma: P06.172<br />

DiGeorge Syndrome: P02.031, P03.177<br />

DiGeorge: C11.3<br />

digital atlas: P11.042<br />

dilated cardiomyopathy: C13.3<br />

dilated: S03.3<br />

direct-to-consumer genetic testing: P01.06<br />

DISC1: P09.018<br />

Discordant Monozygotic Twins: P03.106<br />

disease association: P06.020<br />

Disease Variants: P09.042<br />

Diseases: P01.19<br />

disorders <strong>of</strong> sex development: C07.2<br />

disorders <strong>of</strong> sexual development: P02.032<br />

disposable chip: P03.022<br />

Dissease modifiers: P16.24<br />

distal aphalangia: P02.033<br />

Distress: C18.1<br />

diving: P09.043<br />

DLBCL: P06.198<br />

DLOOP: P16.14<br />

DM2: P11.081<br />

DMD gene: P16.49

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