2008 Barcelona - European Society of Human Genetics

Keyword Index
osteochondrodysplasia: P01.140
Osteogenesis Imperfecta Type VIII: C03.6
osteogenesis imperfecta: P01.339
Osteonecrosis of the Jaw: P06.074
Osteopetrosis: P01.161
Osteopontin (OPN) gene: P06.280
osteoporosis: EP01.10, P01.159, P06.117,
P06.219
osteoporosis-pseudoglioma: P01.340
Otosclerosis: P06.220
otospondylomegaepiphyseal dysplasia:
P01.162
outcome in children: P01.303
outcomes: EP14.17
Ovarian cancer screening: EP14.18
Ovarian cancer: EP14.18, EPL1.1, P04.058,
P04.059, P04.060, P04.061, S05.2
Ovarian dysgenesis: P01.343
Ovarian function: P06.240
overgrowth syndromes: P01.350
overgrowth: C04.1, P01.341
overlapping: P02.143
Oxidative stress: P02.236, P10.27
OXPHOS disorders: P06.221
OXPHOS: P05.130
p.R71G Galician mutation: P04.184
p15: P04.149
P2RY5: PL2.3
P4 medicine: PL4.1
p53 tumour suppressor gene: P06.222
p53,bcl-2: P04.176
P53: P04.062, P04.063
p63: P01.138, P04.063
pachygyria: P01.084
Paget: P01.163
PAGOD syndrome: P01.342
PAH gene: P01.066
PAH: P01.065
pain: P06.223
paired-end method: P08.58
Pallister-Killian syndrome: P02.173
pamidronate: P01.339
Pancreatic ductal adenocarcinoma: P04.177
panic disorder: P06.051
parafibromin: P06.133
paraganglioma: P04.165, P04.179
paraoxonase: P06.018
Parental age: P02.140
parental karyotyping: P03.64
PARK2: P06.091, P06.225
Parkes Weber syndrome: C06.4
Parkin, DJ-1 and PINK1: P06.093
Parkin: P05.154, P06.225
Parkinson Disease: P05.153, P05.155
Parkinson: P05.152, P06.224, P06.225,
P07.038
Parkinson’s Disease (PD): P05.156
Parkinson’s disease: P05.154
Parkinson‘s disease families: P06.228
Parkinson‘s disease: P05.157, P06.075,
P06.149, P06.226, S09.3
Parkinsons‘ Disease: P06.227
partial 7p trisomy: P03.77
partial 8p monosomy: P03.77
partial monosomy 13: P02.217
Partial monosomy 21: P02.174
partial monosomy 8: P02.189
partial monosomy: P03.55
partial trisomy 10q: P02.175
Partial trisomy 15q11-13: P02.081
partial trisomy 16: P02.189
Partial trisomy of 1q42: P02.176
partial trisomy: P02.184, P03.55
Partners: EPL6.2
Patenting and licensing: EPL5.5
paternal age: P02.228
paternal origin: P02.153
pathogenic role: P01.236
pathogenicity: P05.112
patient empowerment: EP14.17
patient information management: C04.6
patient: EP10.17
patient’s confidentiality: P09.49
Patient’s Organizations: P09.50
pattern formation: S07.1
PAX6: P06.021
pc-1: P06.229
PCD: P02.177
PCDH15, CDH23: C15.5
PCDH15: P06.306
PCNT: PL2.1
PCOS: P06.230
PCR: P01.262, P02.100, P02.205
PCR-SSP: P06.203, P07.001
PD: P06.084
PDE4D: P06.277
PDE6B: P06.314
PDZK7: P05.204
pectoral muscles: C11.4
pectus excavtum: P01.178
Pediatric Pathology: P02.116
Pediatric: P04.113
Pedigree: P07.096
peeclampsia: P03.56
PEHO syndrome: P02.016
Pendred: P06.305
Penetrance: P07.064
perceived risk: EP14.16
Perforin mutations: P05.040
pericentric: P02.154, P02.178
pericentrin: C12.1
Perinatal Mortality: P02.116
periodontitis,mental retardation: P07.097
periodontitis: P06.231
Peripheral blood lymphocytes: P05.022
peripheral vascular disease: P06.022
Peripherin gene: P05.171
Peroxisomal diseases: P03.57
Peroxisomal protein: P08.60
Peroxisome biogenesis disorders: P01.064
Peroxisome biogenesis: P01.064
Peroxisomes: S11.1
Perrault syndrome: P01.343
personalised medicine: P07.058
personality traits: P06.087, P06.287
personality: P06.078
Personalized Medicine: S03.3
Peter’s anomaly: P01.240
PEX genes: P01.064, S11.1
PEX7: P05.214
PFAPA Syndrome: P01.344
Pfeiffer Syndrome: P01.139, P01.140
PGC-1: P07.004
PGD: C09.4, EP01.02, EP14.19, EPL3.2,
P02.179, P03.28
PGHD-15: P06.135
Pharmacogenetic: P07.127
Pharmacogenetics: P04.178, P08.83
pharmacogenomics: P06.232
pharmacogenotyping: P10.21
PHD finger: P05.002, P05.009
phenocopy: P01.170
phenogenomics: P08.61
phenotype - genotype: P01.229
phenotype: P01.241, P05.205, P06.014,
P08.20
phenotype-genotype correlations: P02.082
phenotypes: P07.007
phenotypic effect: P01.281
Phenotypic variability: P02.072
phenylalanine hydroxilase: P01.067
Phenylalanine: P01.047
phenylketonuria: P01.046, P01.047,
P01.054, P01.065, P01.066, P01.067
pheochromocytoma: P04.179
philadelphia chromosome: P04.077, P04.089
PHLPP: P04.099
photoreceptor apoptosis: P05.170
phthalate: P04.153
Phylogeography: P07.134
physical exercise: P10.10
physical performance: P06.233
physical therapy: P10.03
Pierre Robin Sequence: C02.6
Pigment dispersion syndrome: P02.180
PIK3CA: P04.015
PINK1: P05.152
PIP5K1C: C03.4
Pitt Hopkins syndrom: C01.3
Pitt-Hopkins syndrome: P01.346
PKAN: P01.331
PKD: EP10.16
PKD1 gene: P06.234
Pkd1-deletion model: P05.217
PKD2: P05.158, P05.159
PLA: C05.6
plasma fetal DNA: P03.41
platelet aggregation: P06.076
PLAU: P06.016
pleiotropy: P07.080
plutonium: P02.107
plysome fractionation: P08.62
PLZF: C11.6
PM-FMR1: P05.160
PML gene: P04.180
PMLD: P05.199
PMM2: P10.06
PMP22 gene: P01.231
PMP22: P01.237
PMS2: P04.026, P04.204
PNA: P01.010