2008 Barcelona - European Society of Human Genetics

Keyword Index
PXE-like syndrome: P05.164
Pycnodysostosis: P05.165
Pyrophosphorolysis-activated polymerization:
P03.09
Q/E27: P07.010
QF PCR: P02.015, P03.39
QF-PCR: C09.1, P02.184, P03.13, P03.14,
P03.15
qPCR: P04.192, P08.65
Q-RT-PCR; MLPA: P05.063
QT long: P05.166
Quadrupeal locomotion: C07.5
Quadrupedal Locomotion: P01.353
qualitative method: EP13.7
qualitative methods: EP14.17
Qualitative study: EPL6.1
qualitative: EP01.04
Quality assurance: P09.58, P09.69
quality control: P09.62
quality management: P09.34, P09.71
quality of life: EPL6.4
quality standards: P09.31
quality: P09.15, P09.57
quantification: P03.56
quantitative clinical scales: P01.083
quantitative PCR: P04.069
Quantitative real – time PCR: P06.269
quantitative RT-PCR: P08.66
Quechuas: P07.139
questionnaire: P04.193
R117H: P01.029
race and ethnicity: EP14.20
RACEfrag: P01.114
Radial agenesis: P03.49
radiation exposure: P02.123
radiation markers: P02.114
radiation: P02.185, P07.040, P07.073
radioinduced bystander effect: P02.186
radiosensitivity: P02.115, P04.066, S14.3
RAF1: P01.183
RAG1/2: P08.18
random aneuploidy: P02.202
randomised controlled trial: EP10.15
RANKL and OPG: C03.3
Rapid Prenatal Diagnosis: P03.15
rare disease: P01.191
Rare Diseases Alliance: P09.59
rare diseases: P07.107, P09.29, P09.50
rare genetic disorders: P01.206
rare missense substitution: P04.121
rare variants: P01.114, P06.249
RAS: P04.013
RASA1: C06.4
RAS-MAPK pathway: P01.185
RAS-MAPK: P01.180
RCIU: P06.250
reactive oxygen species: P06.226
Real Ime PCR: P03.24
Real Time PCR: P01.237, P04.172, P08.32
Real time: P04.038
real-time PCR: P03.16, P05.188, P06.270,
P08.17, P08.53
rearrangement: P01.028
Rearrangements: P02.214, P04.027
recessive: C03.6
reciprocal translocation (8;16): P02.189
reciprocal translocation: P02.187, P02.188,
P03.51, P09.60
Reciprocal translocations 10;18: P02.191
reciprocal translocations: P02.190
reciprocal whole-arm translocation: P02.206
recombinant offspring: P02.098
recombinant: P02.155
Recombination: C13.2, P05.062
recovery: P06.277
recurrence risk: P06.083
Recurrent abortion: P02.192
recurrent miscarriage: P02.118, P03.64,
P05.167, P07.116
recurrent pregnancy loss.: P06.222
Reelin: P06.251
REEP1: P06.131
reference material: P09.61
reference materials: P09.62
referral pathway: EP04.1
regions of Russia: P05.067
Register: P01.003
registries: P07.107
registry: P01.001
Regression analyses: EP10.09
regulation: EPL5.4
Regulator of G protein signaling 2: P06.299
regulatory: C14.2
Relationship to European Pop.: P07.089
relationships: EW4.1
renal agenesia: P01.124
renal agenesis: P01.358
renal cancer: P04.194
Renal damage: P05.217
renal failure: P06.097
renal hypouricemia: P01.077
repeat expansion: P01.223
Repeated pregnancy loss,: P09.63
repeat-expansion disorders: P07.090
replication: P02.010
reproduction: EP01.04, P01.354
reproductive behaviour: P07.075
Reproductive decision making: EP01.05
republic of Ireland: EP01.06
research and clinical practice: EP14.05
research: C14.1
resequencing: P08.67, PL3.1
residual disease monitoring: P04.088
resistance to thyroid hormones: P05.200
respiratory chain defect: P01.355
respiratory chain: P05.066
respiratory distress syndrome: P06.252
restless legs syndrome: P06.169
restrictive dermopathy: P03.72
RET proto-oncogene: P04.195
RET: P05.168, P06.130
retardation syndrome: P02.023
retinal degeneration: P09.64
Retinitis Pigmentosa (RP): P06.254
retinitis pigmentosa: P05.169, P05.170,
P05.171, P06.253, P07.108
Retinoblastoma: C10.2, P04.196, P06.255,
P08.68
Retinoma: C10.2
Retinopathy: P06.211
RETN: P07.109
Rett dyndrome: P01.105
Rett syndrome: C07.3, P01.083, P01.102,
P01.104, P01.106, P01.107, P01.108
Rett: P01.115
Rett-like syndrome: P01.080
reverse engineering: S12.3
reversible denaturation: P08.22
RFLP PCR: P04.164
RhD factor: P07.001
RhD typing: P03.25
RhD: P03.24
rheumatoid arthritis: P06.256, P06.257
rheumatoid disease: P08.55
Rhizomelic Chondrodysplasia Punctata:
P05.214
Rhodopsin gene: P05.171
ribosomal frameshifting: P05.175
rights violation: EP14.23
ring 21: P02.169
Ring chromosome 14: P02.080
ring chromosome 18: P02.193
ring chromosome 4: P02.048
ring chromosome 5: P02.194
RIP140: P01.076
risk assessment: C14.4, EP14.06, P09.41
risk communication: EPL1.4
risk factors: P06.123
risk haplotype: P05.004
Risk Management: P09.58
risk reduction behaviours: EPL5.2
risk stratification: P01.299
risk variants: P07.039
RNA gene: S04.2
RNA interference: P04.197, P05.172
RNA splicing: C15.6
RNA studies: P05.043
RNA: S10.2
RNAi: S04.3
Robertsonian translocation: P02.159
ROBO3: P01.356
roma population: P06.258
Roma/Gypsies: P07.105
Roma: P07.098, P07.110
Romanian Populations: P07.089
Romany (Gypsy): P09.64
Ropporin: P06.276
RP25 locus: P06.254
RPGRIP1L: S13.2
RS1: P05.210
rs10505470: P04.181
RSK2 mutations: P01.079
RT-PCR: P01.037
RTT: P01.106
Rubinstein Taybi: P01.119
Rubinstein-Taybi syndrome: P01.117,
P01.118, P01.269
Russian population: P07.099
Russian Siberian population: P07.101
ryanodine receptor (RYR1): P05.117