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2008 Barcelona - European Society of Human Genetics

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Keyword Index<br />

HYPERPLASTIC POLYPOSIS SYNDROME:<br />

P04.006<br />

hyperplastic polyposis: P04.012<br />

hypertelorism: P03.36<br />

hypertension: P06.134<br />

Hypertriglyceridaemia: P05.115<br />

hypertrophic cardiomyopathy: EPL6.4,<br />

P01.183, P01.299, P01.300, P01.301,<br />

P05.090, P05.092<br />

hyperuricaemia: P06.168<br />

hyperuricemia: P01.059, P05.093<br />

hypochondroplasia: P01.132<br />

hypogenitalism: P01.317<br />

hypogonadism: C01.6, P01.366<br />

hypomelanosis: P01.308<br />

Hypomethylation: P02.055<br />

hypomyelination: P05.199<br />

hypoplastic left heart: P01.243, P01.342<br />

hypospadia: P02.101<br />

hypospadias: P01.363<br />

Hypothalamic dysfunction: P01.302<br />

Hypotonia: P02.203<br />

hypoventilation: P01.302<br />

hypoxanthine-guanine<br />

phosphoribosyltransferase: P05.093<br />

IBD: P06.135, P07.022<br />

ICF syndrome: P05.094<br />

ICSI: P01.272, P01.303<br />

IDE: P06.016<br />

identical twins: P01.290<br />

idic(Y): P03.45<br />

idiopathic bronchiectasis: P06.136<br />

Idiopathic Epilepsy: P05.095<br />

Idiopathic Mental Retardation: P02.027<br />

Idiopathic short stature: P05.180<br />

idiopathic ventricular arrhythmias: P05.096<br />

IGF-1: P07.004<br />

IGF1R gene: P02.172<br />

IGR2096a_1: P06.071<br />

IGR2230a_1: P06.068<br />

Ikaros: C10.5<br />

IL-10: P05.142<br />

IL12B: P06.028, P06.189<br />

IL18RAP: P06.045, P06.070<br />

IL1B: P06.223<br />

IL1R1: P06.218<br />

IL1RAPL1,PAK3: P06.315<br />

IL1RL2: P06.218<br />

IL23R: P06.069, P06.267<br />

IL2RA: P06.190<br />

IL2RG: P06.265<br />

IL4: P06.027, P07.011, P07.047<br />

IL4R: P06.124<br />

IL4RA: P07.047<br />

IL-6: P04.175, P06.015<br />

IL6: P06.223<br />

IL7Rα: P06.191<br />

illness risk representations: EPL1.5<br />

Illumina: P02.034, P06.085<br />

Imatinib mesylate: P04.102<br />

imatinib resistance: P04.091<br />

immune cells: P05.140<br />

immune defense modifier genes: P06.036<br />

Immunodeficiency: P06.120<br />

immunogenetics: P06.086<br />

immunologic impairment: P01.355<br />

immunoresponse genes: P06.215<br />

immunotherapy: P05.194<br />

Impaired spermatogenesis: P05.097<br />

impaired transactivation: P05.052<br />

imprinting centers: P05.098<br />

improvement: P09.20<br />

in situ: C05.6<br />

in utero: S10.1<br />

INAD: P05.099<br />

inbreeding: P06.132, P07.071<br />

incidence in Slovakia: P06.187<br />

increased bone density: C03.3<br />

IND B: P06.130<br />

indels: C05.2<br />

Indigenous: P07.072<br />

Indirect genetic diagnosis: P06.228<br />

individual susceptibility: P07.012<br />

Infantile neuroaxonal dystrophy: P05.099<br />

infantile-onset spasticity: P05.100<br />

infertile men: P02.223<br />

infertility: P02.220, P02.226, P02.230,<br />

P02.232, P07.073, P09.40<br />

inflammation: P05.137<br />

inflammatory bowel disease: P05.101,<br />

P06.137, P06.138<br />

Inflammatory bowel diseases: P06.139<br />

Information and support needs: EP13.8<br />

information booklet: P09.54<br />

Information resource: P09.48<br />

information: EP10.17, EP13.1<br />

informative: P05.144<br />

informed choice: EPL4.1, P03.46<br />

informing relatives: EPL1.2<br />

inheritance: P09.04<br />

Inherited Heart Disorders: P08.79<br />

inherited metabolic disorders: P05.216<br />

Inherited rearrangements: P02.020<br />

inhibitors: P06.123<br />

INPP1: P02.040<br />

INS: P05.102<br />

Ins96: P07.035<br />

INSIG2: P06.099<br />

insurance: EPL5.1<br />

Integrated Platform: P08.70<br />

integrated screening: P03.02<br />

Intention-behavior gap: EP06.3<br />

Interactome: P05.204<br />

Interleukin1α and B: P07.097<br />

interleukin-6: P06.172<br />

interleukine-4: P05.104<br />

internal standard: P08.66<br />

international networking: P09.31<br />

international: P09.05<br />

interpopulation crosses: P06.132<br />

interpreters: EP10.18<br />

Interruption: P05.174<br />

interspersed repeats: P08.43<br />

interstitial deletion 11q: P01.304<br />

interstitial deletion: P02.111, P02.133<br />

Intrachromosomal insertion: P02.152<br />

intrachromosomal rearrangement: P02.198<br />

Intractable epilepsy: P02.081<br />

intron-1 inversion: P05.078<br />

inv dup 15: P02.153<br />

invasion: P04.015, P04.206<br />

inversion: P02.154, P02.155<br />

inversions: P02.156<br />

inverted duplication: P01.305<br />

ionizing radiation: EP01.11<br />

IRAK-M: P06.140<br />

Iran: P01.009, P01.018, P01.023, P05.081,<br />

P06.088, P06.192, P06.305, P07.005,<br />

P07.063<br />

iranian population: P01.024, P06.269,<br />

P07.074<br />

IRF5: C08.1<br />

IRF6: P06.217<br />

iron: P07.067<br />

irritable bowel syndrome: C08.2<br />

IRS1 polymorphisms: P06.141<br />

IRS-2: P06.142<br />

ischaemic vascular disease: P06.002<br />

ischemia: P05.105, P05.106<br />

ischemic stroke: P06.023, P06.143<br />

ISH: P01.306<br />

isodicentric X chromosomes: P02.157<br />

isodisomy: P01.307<br />

is<strong>of</strong>orm: P04.134<br />

isolate: P07.068<br />

isolated population: P06.153<br />

isolated populations: P07.077<br />

Italy: EP14.11<br />

Ito: P01.308<br />

ITPA gene: P04.093<br />

ıvf: P02.167<br />

IVS3+G476A: P06.023<br />

IVS8-5T allele: P02.237<br />

IVSInt-130: P01.009<br />

Jacobsen syndrome: P02.012<br />

JAK2 gene V617F: P04.118<br />

Jak2 V617F mutation: P04.083<br />

JAK2 V617F: P04.111<br />

Japan: EP01.01<br />

Japanese: P06.229<br />

JME: P05.107<br />

JMML: P01.193<br />

Joubert Syndrome: P01.309, P06.144, S13.2<br />

JPS: P04.007<br />

jumping translocation: P02.158<br />

juvenile idiopathic arthritis: P06.039<br />

juvenile stroke syndrome: P05.126<br />

K channelopathies: P05.108<br />

K562 cells: P10.17<br />

Kalirin: P06.276<br />

kardiogenetic: P09.39<br />

karyotype: P02.045, P02.181, P02.199,<br />

P04.077, P04.130, P09.40<br />

karyotyping: P02.151, P02.193, P02.195,<br />

P03.47, P04.050, P04.115<br />

Kazakh population: P06.046<br />

KCNE1: P05.109, P06.210<br />

KCNH2: P05.108, P05.166<br />

KCNJ10 gene: P06.145

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