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2008 Barcelona - European Society of Human Genetics

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Keyword Index<br />

PND: EPL3.2<br />

podocin gene (NPHS2): P05.028<br />

podocin: P05.145, P07.098<br />

POF: P01.091, P05.160<br />

point mutations: P01.230, P07.049<br />

Poland syndrome (PS): C11.4<br />

policy: P09.07, P09.51<br />

polimorfisms: P06.304<br />

Poly (A) binding protein nuclear 1: P01.217<br />

Poly T: P07.083<br />

polycystic kidney disease: P03.58<br />

Polycythemia vera: P04.118<br />

polydactyly: P01.131, P01.143, P02.149<br />

polygenic: S06.1<br />

polyglutamine: P05.175<br />

polymicrogyria: P02.033<br />

polymorphic loci: P06.162<br />

polymorphic variation: P02.178<br />

polymorphism <strong>of</strong> serotonin transporter gene:<br />

P07.100<br />

polymorphism <strong>of</strong> STR loci: P07.101<br />

polymorphism: P01.067, P02.181, P04.047,<br />

P04.203, P06.002, P06.036, P06.052,<br />

P06.072, P06.075, P06.081, P06.088,<br />

P06.095, P06.134, P06.142, P06.145,<br />

P06.147, P06.166, P06.171, P06.174,<br />

P06.222, P06.235, P06.237, P06.256,<br />

P06.279, P06.286, P06.291, P06.310,<br />

P06.312, P07.025, P07.032, P07.034,<br />

P07.054, P07.077, P07.099, P07.133, P08.83<br />

polymorphisms: P01.041, P04.138, P06.213,<br />

P06.320, P07.020, P07.065, P07.086,<br />

P07.102<br />

Polyploidy: P03.59<br />

PON polymorphism: P02.241<br />

PON: P06.236<br />

PON1: P06.237<br />

poor prognosis: P04.167<br />

population carrier screening: EPL4.5<br />

population differences: P07.103<br />

population frequencies <strong>of</strong> CFTR mutations:<br />

P07.103<br />

population genetic diversity: P07.103<br />

population genetics: P07.117<br />

population genomics: P09.51<br />

population screening: P07.131<br />

population: P01.054, P06.239<br />

population-based study: P06.157<br />

populations: P07.034, P07.120<br />

porphobilinogen deaminase: P05.161<br />

Portugal: P10.16<br />

portuguese founder mutation: P04.044<br />

portuguese screening: P04.042<br />

Postnatal cytogenetics: P02.022<br />

postnatal: P01.158<br />

potential years <strong>of</strong> life lost: P09.52<br />

POU3F4: P01.277<br />

power performance: P06.129<br />

PPAR-alpha: P07.104<br />

PPARG: P06.238<br />

Practice: EP05.2<br />

Prader Willi Syndrome: P08.63<br />

Prader-Willi Syndrome (PWS): P03.70<br />

Prader-Willi syndrome: P02.056, P02.058<br />

preaxial polydactyly II: P01.149<br />

preconception carrier screening: EP06.3<br />

preconception screening: EP14.20<br />

preconceptional carrier screening: EP01.08<br />

predictive test: EP08.6<br />

predictive testing: EP08.2, P09.32<br />

predictive value: P01.319<br />

predictive: EP08.5<br />

preeclampsia: P06.239<br />

pregnant: EP01.10<br />

preimplantation genetic diagnosis and<br />

screening: P01.347<br />

preimplantation genetic diagnosis: C09.3,<br />

C09.5, EPL3.1, P03.26, P03.27<br />

preimplantation genetic screening: C09.6,<br />

P03.12<br />

preleukaemic clone: P04.095<br />

Premature Chromosome Condensation:<br />

P02.163<br />

Premature Ovarian Failure: P05.162,<br />

P06.240<br />

premature stop codon: P01.119<br />

Premutation and intermediate alleles:<br />

P01.248<br />

premutation carrier: P01.092, P01.098<br />

prenatal counselling: P09.53<br />

prenatal diagnosis,: P01.252<br />

Prenatal diagnosis: C09.1, EP14.21,<br />

P01.012, P01.025, P01.026, P01.122,<br />

P01.151, P01.192, P01.207, P01.208,<br />

P01.209, P02.088, P02.155, P02.190,<br />

P02.212, P03.03, P03.05, P03.13, P03.16,<br />

P03.37, P03.40, P03.44, P03.55, P03.57,<br />

P03.59, P03.60, P03.61, P03.65, P03.76,<br />

P09.04, P09.24, P09.26<br />

prenatal genetic counselling: P03.67<br />

prenatal genetics: P09.13<br />

Prenatal image: P01.182<br />

prenatal screening: C09.2, EP01.09, P09.54<br />

prenatal testing: EP10.01, EPL4.2, EPL4.4,<br />

P03.34<br />

prenatal: P01.157, P02.181, P03.04, P03.75<br />

Presenil dementia: P01.351<br />

presenilin: P01.242<br />

Prestige: P02.182<br />

presymptomatic testing: EP08.7<br />

preterm delivery: P03.33<br />

prevalence rates <strong>of</strong> hereditary disorders:<br />

P01.002<br />

prevalence: P07.107<br />

prevention: EP10.11, P01.023, P03.27,<br />

P09.24<br />

preventive behaviour: EPL1.5<br />

primary congenital glaucoma: P06.241,<br />

P07.105<br />

Primary Hyperoxaluria: P01.348<br />

Primary Lateral Sclerosis: P06.242<br />

primary lymphoedema: P01.173<br />

primary microcephaly: P05.121<br />

primary ovarian failure: P02.183<br />

primer design: P08.67<br />

Prion: PL4.1<br />

PRKAA2: P06.268<br />

PRKCA: P06.193<br />

process: EP10.12<br />

pr<strong>of</strong>essional education: P09.09<br />

pr<strong>of</strong>essional ethics: EPL2.4<br />

pr<strong>of</strong>essional training course: P09.55<br />

progeroid: P01.349<br />

promoter methylation: P04.205<br />

promoter mutations: P05.017<br />

Promoter: P05.046, P05.071, P08.08, P08.43<br />

propionic acidemia: P01.048<br />

proprioceptive training: P10.10<br />

ProSeeK: P08.64<br />

prosopagnosia: P07.106<br />

prostate cancer: C10.1, EP02.1, EP11.2,<br />

P04.154, P04.181, P04.182, P04.183,<br />

P04.184, P04.185, P04.186, P04.187,<br />

P04.188, P04.203<br />

protection: P09.66<br />

protein glycosylation: P01.273<br />

protein misfolding: S09.3<br />

protein regulation: P03.29<br />

proteinuria: P05.059<br />

proteomics: P02.234<br />

proteus syndrome: P01.350<br />

prothrombin: P09.61<br />

ps2 gene: P05.004<br />

PSAGN: P06.167<br />

PSEN 1 deletion: P01.351<br />

pseudo-Angelman phenotype: P02.164<br />

Pseudohypoparathyroidism: P05.163<br />

pseudoisodicentric chromosome 18: P03.66<br />

Pseudoxanthoma elasticum: C06.5, P05.164<br />

psoriasis: P06.243, P06.244, P06.317, S01.3<br />

PSORS6: P06.092<br />

psychiatric genetics: EPL2.3<br />

Psychological distress: EP12.1<br />

psychological features: EP14.16<br />

psychological impact: EP08.7, EP08.8,<br />

EP10.20, EP14.18<br />

psychological stress: P07.061<br />

psychological support: EP14.21<br />

Psychosis: P06.246<br />

Psychosocial impacts: EP14.08<br />

Psychosocial support: EP13.9<br />

psychosocial: EP13.7, EPL6.3<br />

PTCH: P06.118<br />

PTCH1 gene: P04.189<br />

PTCH1: P04.150<br />

PTEN: P04.012, P04.190, P04.191<br />

PTPN11/SHP2: P01.188<br />

PTPN11: P01.180, P01.186, P01.187<br />

PTPN22: P06.247<br />

public engagement: EPL2.3<br />

Public Health: S03.4<br />

public opinion: C14.5<br />

public policy: P09.33<br />

public understanding: EP06.2<br />

pulmonary arterial hypertension: P09.56<br />

pulmonary disease: P01.333<br />

pulmonary vein stenosis: P01.352<br />

pure partial monosomy 13q: P02.082<br />

pure: P02.046<br />

PVRL1: P06.248<br />

PWS: P02.059<br />

PXE: P05.164

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