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2009 Vienna - European Society of Human Genetics

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Keyword Index<br />

hydrocephaly: P05.11<br />

Hydrops fetalis: P12.093<br />

Hyperandrogenism: P09.059<br />

hypercholesterolaemia: P17.46<br />

Hypercholesterolemia: P17.47, P17.49<br />

Hyperechogenic fetal bowel: P02.127<br />

hyperferritinemia: P12.094<br />

hyperhomocysteinaemia: P17.36<br />

Hyper-IgD: P12.059<br />

hypermethylation: P03.195<br />

hypernasal speech: P02.051<br />

hypertension: P09.108, P17.04, P17.13,<br />

P17.16, P17.28, P17.29<br />

Hypertriglyceridemia: P08.09<br />

Hypertrophic Cardiomyopathy: C01.6,<br />

C13.4, C18.6, P13.12, P16.11, P16.12,<br />

P16.13, P16.16, P16.23, P16.24, P16.25,<br />

P16.26, P16.27, S03.2<br />

hypertrophic: S03.3<br />

hyperuricemia: P08.36<br />

Hypoacusia: P10.35<br />

hypodontia: P02.087<br />

hypomelanosis <strong>of</strong> Ito: P03.143<br />

hypothenar muscle atrophy: P02.016<br />

hypotrichosis: P02.052, P10.44<br />

i<br />

I/D polymorphism: P08.08<br />

IBD: P09.053<br />

I-cell disease: P13.37<br />

ICSI: P04.06, P04.27<br />

Identity: C09.2<br />

idiopathic chronic pancreatitis: P12.095<br />

idiopathic neonatal epilepsy: P17.70<br />

idiopathic ventricular fibrillation: C13.1<br />

Idiopathic: P02.069<br />

idiopatic hirsutism: P13.27<br />

I-FISH: P07.08<br />

IFT80 gene: P02.164<br />

IGA nephropathy: P12.164<br />

IgE: P09.054<br />

IGF: P06.179<br />

IGF-I: P10.45<br />

IgG: P12.061<br />

IGH: P06.199<br />

Iintra-intronic minisatellite: P11.061<br />

Ikaros: C06.6<br />

IKBKG: P02.054, P12.096<br />

IL10 (-1082G/A): P06.047<br />

IL-10: P10.49<br />

IL-1β: P06.037<br />

IL2 / IL2RA: P09.079<br />

IL23R: P10.46<br />

IL2RA: P09.009<br />

image analysis: P03.052<br />

Imatinib treatment: P06.189<br />

immunogenetic: P04.24<br />

immunosuppressant: P08.56<br />

Imprinting: C15.2, P04.07, P04.29<br />

imputation: C05.6<br />

In Best Vitelliform Macular Dystrophy:<br />

P02.053<br />

in men: P03.032<br />

Inborn Errors <strong>of</strong> Metabolism: P10.47<br />

inbreeding coefficient: P10.41<br />

incidence: P02.163, P10.47, P13.11,<br />

P13.39<br />

incomplete penetrance: C02.3<br />

Incontinentia pigmenti: P02.054, P12.096,<br />

P12.115<br />

Indigenous populations: P10.60<br />

individual DNA data bank: P01.18<br />

Infantile polyposis: P06.048<br />

infantile Pompe disease: P14.08<br />

infection: P02.027<br />

Infections-virology: P12.056<br />

infertile women: P03.031<br />

infertiliry: P03.190<br />

infertility: C07.3, P03.032, P03.037,<br />

P03.197, P04.03, P04.08, P04.09, P04.20<br />

inflammation: P09.055<br />

inflammatory bowel disease: P09.056,<br />

P09.057<br />

Inflammatory bowel diseases: P09.058<br />

INHERITED CARDIAC ARRHYTHMIAS:<br />

P16.20<br />

inherited cardiac diseases: P16.05<br />

inherited organic acidurias: P13.28<br />

Innate immunity: C08.3<br />

inner ear development: C14.1<br />

Innovations: P15.05<br />

INPP5E: C03.1<br />

INS: P17.02<br />

Insulin Receptor: P17.10<br />

insulin resistance: P17.06<br />

Insulin signalling: PL2.3, S14.3<br />

insulin: P12.097<br />

Insuline resistance: P09.059<br />

Integration: P14.11<br />

Intellectually Handicapped: P03.033<br />

Intelligent Quotient;: P03.034<br />

interacting proteins: P11.017<br />

interaction: P10.36<br />

interferon regulatory factor 5: P09.080<br />

intergenic interactions: P09.107<br />

interindividual variability: P03.014<br />

interleukin-10: P06.172<br />

Interleukin-7 receptor α: P09.081<br />

Intermediate allele: P03.153<br />

International Classification <strong>of</strong> Diseases<br />

(ICD 10): P01.22<br />

international consensus: P06.049<br />

Internet Technologies: P01.08<br />

Interpopulation Differences: P10.21<br />

Interstitial Cajal Cells: P11.062<br />

Intracranial calcification: C08.3<br />

intrahepatic cholestasis <strong>of</strong> pregnancy:<br />

P09.060<br />

intrinsic attachment: P09.083<br />

intronic mutation: P16.09<br />

Intronic mutations: P02.147<br />

inv 1p: P03.127<br />

invasive prenatal diagnostics: C07.6<br />

Inversion (9): P05.13<br />

inversion 18: P03.146<br />

Inversion Y: P03.035<br />

inversion: P03.190, P08.62<br />

inverted duplication: P03.036, P03.121,<br />

P06.157<br />

IRAK3: P09.061, P10.48<br />

Iran: P01.14, P02.171, P02.173, P02.175,<br />

P02.176, P02.178, P03.016, P06.035,<br />

P06.140, P08.34, P08.37, P08.38,<br />

P08.66, P12.030, P12.057, P12.075,<br />

P16.34, P16.37<br />

Iranian population: P02.182, P10.77,<br />

P12.155<br />

Iranian: P06.043<br />

Iraq, Iran: P10.14<br />

IRF5: P09.120<br />

IRF6 gene: P09.027<br />

IRIDA: P12.098<br />

irinotecan: P06.097<br />

iron: P09.062, P12.098<br />

irritable bowel syndrome: P09.063<br />

ischemia: P11.122<br />

ischemic: P09.116<br />

islamic republic <strong>of</strong> iran: P10.75<br />

isochromosome Xp: P07.06<br />

isochromosome Xq: P03.038<br />

isochromosome: P03.128, P05.38<br />

isolate population: P16.04<br />

Ist and 2nd trimester screening: P05.02<br />

IT15 gene: P12.090<br />

ITPA: P06.176<br />

ITPR-1 gene: P12.146<br />

ITPR1: P12.145<br />

IVSI-II(T>C): P12.099<br />

IVSII-I: P12.001<br />

IVSII-nt1 Mutation: P02.173<br />

J<br />

Jacobsen syndrome: P03.129<br />

JAG1: P12.007<br />

JAK1: P06.177<br />

JAK2: P09.064<br />

Japanese: P08.27<br />

JARID1C: P02.198

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