2008 Barcelona - European Society of Human Genetics

Keyword Index
Distal renal tubular acidosis: P05.014
DJ-1: P06.084
DKC1: P05.215
DLB: P06.013
DLG5: P06.138
DMD gene: C15.1
DMD, NF1, SPG4: P06.273
DMD/BMD: P01.207, P01.221
DMD: P01.200, P01.201, P01.210, P01.220,
P05.133, P06.183
DMPK gene: P01.213, P01.223
DMPK: P05.032
DNA analysis: P01.032, P01.190, P01.207
DNA damage response: S14.1
DNA destabilization: P08.22
DNA extraction: P03.25
DNA fingerprinting: P03.22
DNA fragment: P08.71
DNA hybridization: P08.23
DNA methylation: P02.138, P03.19, P04.129,
P06.307
DNA mismatch repair (MMR): P04.019
DNA pooling: P06.085
DNA Sequencing: P01.012, PL3.2
DNA typing: P07.043
DNA: P08.21, P08.87
DnaseI: P06.086
DNMT3B: P05.094
DOCK1: P06.297
doctor-patient communication: EP10.14
donor splice site: P10.09
Dopamine D4 Receptor Gene: P06.322
dopamine system: P06.170
dopamine transporter gene: P07.044
Dopamine Transporter: P06.088
dopamine: P05.089, P06.087
Dopamine-responsive dystonia: P01.280
double knockout: P01.053
Down screening: P03.02
Down syndrome screening: P03.29
down syndrome: C05.4, C09.1, EP10.18,
P01.264, P02.139, P02.140, P02.207,
P03.03, P03.04, P03.05, P03.06, P03.07,
P03.40, P05.033, P05.034, P05.123,
P06.089, P07.045, P08.24, P08.26, P10.10,
S10.2
Down’s syndrome: EPL4.2
Downs Syndrome: P03.08
Doxazosina: P02.108
DRD3: P06.262
DRD4: P06.322
Du Pan chondrodysplasia: P01.130
Duchenne Becker Muscular Dystrophy:
EP03.1
Duchenne muscular dystrophy (DMD):
P10.11
Duchenne muscular dystrophy: C15.1,
P01.208, P01.209, P05.124, P08.25
Duplication 20q11.2: P02.141
duplication 8p: P01.281
duplication of 7(q21.2----q32): P02.142
duplication: C04.3, P01.028, P01.101,
P01.164, P02.013, P02.121, P06.183
dwarfism: P01.157, P01.158, PL2.1
DYRK1A: P08.26
dysbindin: P06.041
Dyschromatosis universalis hereditaria
(DUH): P06.090
dysferlin: P01.222
Dyskeratosis Congenita: P05.215
dyskerin: P05.215
Dyslexia: P06.272
dysmorphic features: P02.143, P02.194
Dysmorphology: P01.282, P02.204
dysplasia: P01.146
Dysregulated RAS: S13.1
dystonia: P05.126
Dystrophin: P01.225, P02.126, P03.28
E148Q: P05.050
E1A: P04.197
early onset colorectal cancer: P04.014
Early Onset Parkinson Disease (EO-PD):
P06.091
early onset psoriasis: P06.092
early-onset Parkinson’s disease: P06.093
Eating Disorders: P06.176
E-cadherin: EP13.2
ECCL: P01.285
ectodermal dysplasia: P01.138, P06.012
ectomorph: P02.131
ectopic recombination: S08.2
ectrodactyly: P01.283
ectrodactyly-associated chromosomal
translocations: P01.155
ectrodermal dysplasia: P02.144
EDA: P05.141, P05.209
EDNRB: P02.087
education: C14.6, EPL2.3, P05.035, P09.17
Educational program: EP13.5
Edwards syndrome: P03.66
EFCH1: P05.107
EGF-like domain: P06.094
Ehlers-Danlos syndrome, Vascular type:
P05.036
EHMT1: P02.006
eight genes: P07.099
electronic infrastructure tools: P08.76
Electrophoresis: P08.21, P08.56
Elhers-Danlos syndrome: P02.145
Elite soccer players: P07.046
Ellis van Creveld: P01.131
Ellis Van-Creveled syndrome: P01.284
Emanuel: P02.200
embryonic staminal cells: C05.4
EMD gene: P01.211
Emery-Dreifuss muscular dystrophy: P01.211
EMQN: P09.44
ENaC mutations: P01.035
Enamelin: P05.005
Encephalocraniocutaneous lipomatosis:
P01.285
encephalopathy: P05.037
ENCODE: P08.27
Encoding: S07.1
endocrine abnormalities: P02.071
endocrine disorders: P01.275
Endogamie géographique: P07.024
endogenous ethanol: P05.008
endometrial cancer: P04.025, P04.158
endometrial carcinoma: P04.015
Endometriosis: P04.141, P06.095, P06.122,
P07.047
endophenotype: P06.208
endotelial nitric oxide syntase: P01.033
endurance sport: P06.096
endurance: P06.209, P06.233, P07.003
ENG gene: P01.314
Enhancer: P08.28
eNOS gene polymorphism: P06.097
eNOS: P06.062
enteric nervous system: P05.088
Entropion: P02.178
epidemiologic methods: P07.087
Epidemiology: P06.220, P07.052, P07.055,
P07.091, P07.124
epidermal differentiation complex: P06.244
epidermolysis bullosa: P05.038
Epigenetic modification: P01.093
epigenetic: P02.059
Epigenetics analysis: P08.38
epigenetics: P02.049, P03.19, P03.41,
P04.061, P04.129, P05.094
Epilepsy: P01.257, P02.080, P02.146,
P05.037, P05.107, P06.098
epimutation: P04.023
epimutations: P05.098
epithelial cancers: S08.3
eponyms: P01.286
EQA: P02.128
eQTL: C13.5
ERBB3: C03.4
ErbB4: P05.037
ERK 1/2: P10.14
Erythroid cells: P10.02
erythropoietic protoporphyria: P05.039
Esophageal SCC: P04.142
ESRD: P06.082
Essential hypertension: P06.099, P07.048
essential tremor: P06.100
Estrogen receptor gene: P06.095
estrogen receptor-α: P04.047
ETHE1: P01.055
ethical aspects: P09.72
ethical: C14.2
ethics: C14.1
ethnic groups: P07.063
ethnicity: P06.239
ethnogenetic processes: P07.057
Ethnography: EP06.1
Ethylmalonic encephalopathy: P01.055
Etiological Investigation: P02.165
ETM2: P06.100
etnicity: P09.18
ETV6/PDGFRB: P04.082
euchromatic abnormality: P01.281
EuroGentest: P08.39, P09.57
Euro-HD Network: EP14.13
evaluating and introducing new tests: P03.17
evaluation protocol: P01.263
evaluation: P09.19
EVI1: P04.109