2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics
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