European Human Genetics Conference 2007 June 16 – 19, 2007 ...
European Human Genetics Conference 2007 June 16 – 19, 2007 ...
European Human Genetics Conference 2007 June 16 – 19, 2007 ...
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Keyword Index<br />
PGD: P0393, P0465, P0466, P1030<br />
PGH: P0466<br />
PGS: C76<br />
pharmacogenetics: P0267, P0984<br />
Pharmacological chaperone: P1406<br />
Pharmacological therapy: C56, P1411<br />
PHC: P1360<br />
Phenotype: P0223, P0780, P0818, P1243<br />
phenotype genotype correlation: P0159<br />
phenotype-genotype correlation: P1125<br />
Phenylketonuria: P0837, P0838<br />
pheochromocytoma: P0600<br />
PHF11: P0908<br />
Philadelphia chromosome: P03<strong>16</strong>, P0532, P0550<br />
Philadelphia translocation: P0533<br />
phosphodiesterase: P0218<br />
Phospholamban: P0753<br />
PHOX2B: P02<strong>19</strong>, P0601<br />
physical performance: P1065, P1202<br />
Pigmentation: P1186<br />
PIT1: P1012<br />
Pitt-Hopkins syndrome: C42<br />
PKAN: P0220<br />
PKD1 gene: P0912<br />
PKD2: P0841<br />
PKD2 gene: P0912<br />
PKHD1: P0431<br />
PKHD1/ HNF1ß: P0842<br />
plague: C18<br />
Plakophilin: P0654<br />
plasma: C28<br />
Plasmodium: P1<strong>16</strong>1<br />
platelet: P0136<br />
Platelet GPIIb-IIIa: P1205<br />
platelets: P0749<br />
PLOSL: P1039<br />
PLP1: P0839, P0840<br />
PMD: P0<strong>16</strong>3, P0839, P0840<br />
PML: P0602<br />
PMP22: P0686, P0932, P0933<br />
PMP-22: P0761<br />
PND: P0255<br />
point mutation: P0740<br />
point mutations: P0<strong>19</strong>8, P0727, P0801, P1028<br />
Poland Syndrome: P0221<br />
POLG: C11, P0861, P1203<br />
Polycystic kidney disease: P0841, P0842<br />
polycystic ovary syndrome: P1066<br />
polydactyly: P0184<br />
polylysine: P1407<br />
polymicrogyria: P0382<br />
Polymorhism: P0607<br />
polymorphic genetic markers: P1067<br />
polymorphism: P0138, P0175, P0225, P0596, P0773,<br />
P0794, P0836, P0874, P0899, P0921, P0922, P0963,<br />
P0964, P0965, P1017, P1040, P1043, P1068, P1069,<br />
P1070, P1071, P1074, P1077, P1095, P11<strong>16</strong>, P1124,<br />
P1189, P1204, P1274, P1284<br />
polymorphism of STR markers: P1146<br />
Polymorphism PlA1/A2: P1205<br />
polymorphisms: P0505, P0520, P0599, P0768,<br />
P0980, P1006, P1035, P1055, P1206<br />
polyphenols: P0383<br />
polyunsaturated fatty acid: P1072<br />
pooling: P1088, P1284<br />
Population: P1258<br />
Population admixture: P1217<br />
population differentiation: P1<strong>19</strong>1<br />
population genetics: P1<strong>16</strong>6, P1<strong>16</strong>9, P1207, P1208<br />
population isolate: P1023<br />
Population screening: C31<br />
Population structure: P1141<br />
porphobilinogen deaminase: P0633<br />
porphyria: P0633<br />
Portuguese: P1139, P1188<br />
position effect: P1024<br />
Positive association: P1073<br />
post-transcriptional regulation: P1232<br />
POU1F1: P1012<br />
poverty: P1373<br />
power: P1201<br />
PPAR: P1411<br />
Practices: C79<br />
Prader-Willi syndrome: P0222, P0223, P0224, P03<strong>19</strong>,<br />
P0322, P0353, P0428a, P0728<br />
Prader-Willi-Like Phenotype: P0224<br />
pre-B-ALL: P0603<br />
predictive testing: P09<strong>19</strong><br />
predictive value: P0183, P1259<br />
Preeclampsia: P07<strong>16</strong>, P1074<br />
Pregnancy: P0314, P0484, P0875, P1337<br />
preimplantation genetic diagnosis: C25, P0373,<br />
P0384, P0431, P0467, P0468, P0469, P0470, P0471,<br />
P0472, P0473, P1340, P1374<br />
preimplantation genetic screening: P0470<br />
Premature ovarian failure: P0385, P1075<br />
Premutation: P0114, P0121<br />
prenatal cytogenetic analysis: P0455<br />
prenatal diagnosis: C25, P0230, P0375, P0386,<br />
P0429, P0433, P0439, P0441, P0448, P0449, P0457,<br />
P0474, P0475, P0476, P0477, P0478, P0485, P0814,<br />
P1335, P1340, P1359, P1384<br />
Prenatal Genetic Counseling: P1375<br />
Prenatal Invasive Testing: P1375<br />
prenatally diagnosis: P0489<br />
Preserved Speech Variant: P0843<br />
Presymptomatic testing: P1358<br />
prevalence: P1172, P1173<br />
prevention: P0604, P1334<br />
Primary ciliary dyskinesia: P0844<br />
Primary congenital glaucoma: P0387<br />
primary cutaneous amyloidosis: P1076<br />
Primary Focal Dystonia: P0225<br />
procarcinogens: P1224<br />
PRODH mutations: P0141<br />
product of conception: P0388<br />
professional training: P1376<br />
Progeria: P0<strong>19</strong>6<br />
Progeroid syndromes: P0226, P0270<br />
prognathism,: P0364<br />
prognosis: P0515, P1065<br />
progression: P0530<br />
progressive deafness: P0013<br />
promoter: P0836, P1223<br />
promoter analysis: P1286<br />
promotor polymorphysms: P0882<br />
promyelocytic leukemia: P0605<br />
proopiomelanocortin: P1077<br />
Prostate cancer: P0389, P0538, P0606, P0607,<br />
P0608, P0609, P0612, P1078<br />
Proteomics: P1268<br />
PROX1: P0845<br />
Prvention: P0473<br />
pseudoarthrogryposis-like syndrome: P1079<br />
pseudodicentric chromosome: P0477<br />
Pseudodominant: P0246<br />
Pseudoxanthoma elasticum: P0227<br />
Pseudoxanthoma Elasticum-like disorder: P0846<br />
psoriasis: P0228, P1080, P1081<br />
PSORS1 loci: P0228<br />
psychiatric issues: P0008<br />
psychological: P0129<br />
psychological experience: P1377<br />
psychomotor delay: P0082<br />
psychosis: P1050<br />
PTC/PROP phenotype: P0917<br />
PTCH: P1082<br />
PTEN: P0<strong>16</strong>0, P0598, P0610<br />
ptosis: P0037<br />
PTPN11: P0205, P0821<br />
PTPRD gene: P0320<br />
public attitudes: P1366<br />
public awareness: P1307<br />
pure 20q trisomy: P0390<br />
pure partial trisomy 17q24.3: P0391<br />
purine-rich: P0921, P0922<br />
PVR: P1083<br />
PVRL2: P1083<br />
PXE: P0846<br />
pyridoxal phosphate: P0847<br />
Pyridoxamine 5’-phosphate oxidase deficiency:<br />
P0847<br />
Q6NUR6: P0848<br />
Qatari: P0<strong>16</strong>1<br />
QF PCR: P0435<br />
QF-PCR: C30, P0454, P0474, P0478, P0479, P0480,<br />
P0481<br />
QF-PCR analysis: P0482<br />
qmpsf: P0490<br />
QTc: P1183<br />
QT-interval: P0979<br />
Qualitative Research: P1336, P1349<br />
Quality: P1285, P1290<br />
quality assurance: P1305, P1374<br />
quality control: P1378<br />
Quality Management: P1379, P1380<br />
Qualiy: P1396<br />
quantification: P1084<br />
quantitative: P1100<br />
quantitative trait loci: P1209<br />
quantitative traits: C43, P0918, P1<strong>16</strong>5<br />
RAB23: PL07<br />
radial hypoplasia: P0229<br />
radiation: P0302<br />
radiosensitivity: P0334, P05<strong>16</strong><br />
RAP1 A: P0617<br />
Rare diseases: P0230, P1381<br />
RAS signaling: C36<br />
RB1: P0851<br />
Rb1 gene: P0232<br />
RCCX module: P0695<br />
Reactive oxygen species: P1410<br />
real-time: P0274<br />
real-time PCR: P0438, P0855, P1033, P1241, P1277<br />
rearrangement: P0509<br />
rearrangements: P0341<br />
receptor: P1121<br />
recessive bone disease: C63<br />
Recessive lethal alleles: P1382<br />
Recessive mutation: C40<br />
recessive XLRP: P0889<br />
reciprocal translocation: P0392, P0393<br />
recognition: P1244<br />
Recombination: C73, P0368<br />
recurrent miscarriage: P0394<br />
recurrent pregnancy loss: P0415, P0849<br />
Recurrent spontaneous abortion: P1382<br />
reduced penetrance: P0735<br />
reference material: P1378, P1383<br />
regulation of gene expression: P1286<br />
Regulations: C79<br />
regulatory genes: P0898<br />
related individuals: C43<br />
renal: P1068<br />
renal anomalies: P0144<br />
renal cancer: P0626<br />
Renal Cell Carcinoma: P0395<br />
renewed data: P1218<br />
renin-angiotensin system: P0231<br />
rennin<strong>–</strong>angiotensin-bradykinin system polymorphisms:
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