2008 Barcelona - European Society of Human Genetics

Keyword Index
evolution: P02.112, P07.090
exercise: P06.007
exfoliation glaucoma: P06.101
exfoliation syndrome: P06.101
Exon skipping: C15.1
Exostoses: P01.160
exposed populations: EP01.11
expression profiles: P06.323
expression profiling: P02.233
expression: C13.4, P05.106, P06.030
EXT1: P01.160
external quality assessment: P03.26, P09.20
Extracellular matrix: P05.158
EYA1 gene: P05.015
eye: P02.019
F12: P05.198
Fabry disease: P01.057, P07.062
Fabry: P01.056
face blind: P07.106
facial dismorphysm: P01.178
Facioscapolohumeral Dystrophy: C12.2
Facioscapulohumeral Muscular Dystrophy:
P01.203
Factor IX: P05.079
factor VIII gene: P05.078
factor VIII: P05.077
factors at risk: P07.045
FADS gene polymorphisms: P06.102
FAF1: C02.1
FAH: P01.078
False negative: P03.14
False positive: P03.14
familial adenomatous polyposis: EP13.3,
S05.1
familial amyloidosis: EP12.2
familial cancer: P04.207
familial hemophagocytic lymphohistiocytosis:
P05.040, P05.041
Familial Hypercholesterolaemia: EP14.09,
P05.112
Familial Hypercholesterolemia: EPL1.5,
P05.042, P05.043, P07.049
Familial MDS: P04.110
Familial Mediterranean Fever: P05.044,
P05.045, P06.103
Familial melanoma: EPL3.5, P04.160
familial Paraganglioma: P04.143
familial primary cutaneous amyloidosis:
P06.104
Familial Pulmonary Fibrosis: P06.105
Family communication: EP10.10, EP12.3
Family dynamics: EP12.1
family history: EP12.3, EP14.04, EPL1.4
family size: P06.154
FANCJ: P04.144
FANCN: P04.144
Fanconi anemia: P02.147, P04.144, P05.046
FAP: P04.001, P04.003, P04.004, P04.005
fast PCR: P08.29
fatty acid metabolism: P01.075
FBN1: P01.316, P05.118, P05.119, P05.120
FBN2: C11.3
Fc gamma receptors: P06.106
features of genealogy: P09.72
FEB1: P06.107
FEB2: P06.107
Febrile seizures: P06.107
Feingold syndrome: P05.047
Ferritin gene: P01.051
ferrochelatase: P05.039
Ferroportin: P05.022, P05.076
fertile males: P02.227
fertility: P07.080
Fetal akinesia: PL2.6
Fetal Alcohol Syndrome: P01.170, P09.21
fetal DNA: P03.20
fetal epigenetic markers: P03.54
fetal malformations: P03.11
Fetal Medicine Units: EP14.12
fetus: P03.73, P03.74
FFPE: P08.30
FGF signalling: S13.3
FGFR1: P01.139
FGFR2 gene: P01.156
FGFR2: P01.140, P01.152, P01.154
FGFR3: P01.132, P01.157, P01.158
FH: P05.048
FHL2: P04.085
FHM: P06.108
fibrinogen: C05.5, P06.283, P08.34
filaggrin: P06.032
filter paper blood spots: P06.184
Fingerprints: P08.05
Finland: P06.033
first consultation: P04.193
First trimester screening: P03.42
first-trimester screening: P03.43
FISH 5q31: P04.110
FISH and molecular studies: P02.072
FISH method: P02.010
FISH spermatozoa: P02.228
FISH: P02.004, P02.011, P02.013, P02.065,
P02.066, P02.080, P02.103, P02.117,
P02.148, P02.149, P02.187, P02.209,
P02.212, P03.03, P03.71, P04.075, P04.088,
P04.162, P04.200, P08.46
FKRP gene: P01.204
FKRP: P01.202
FLI1: P02.012
FLNA: P01.333
fluorescence in situ hybridisation: C09.6,
P03.12
Fluorescence in situ hybridization (FISH):
P04.141
fluorescent in situ hybridization: P02.091,
P04.114
FMF: P01.287, P05.049, P05.050, P05.051
FMR1 gene: P01.090, P01.097
FMR1 premutation: P05.162
FMR1: P01.094, P01.111, P01.112, P01.113,
P01.116, P01.248, P07.050
FMR-2: P01.095
Focal Dystonia: P06.109
foetus: P03.69
folic acid: P01.265
Folliculin: P04.123
follow-up: P01.347
food intake: P06.288
founder effect: P01.234
founder mutation: C03.6, P04.057
founder mutations: P06.258
founder population: P07.051
FOXL2 locus: P08.02
FOXL2 missense mutation: P05.052
FOXL2: P05.013
FPF: P06.105
Fragile X mental retardation syndrome:
P01.113
Fragile X syndrome: EPL4.5, P01.083,
P01.089, P01.090, P01.091, P01.092,
P01.093
Fragile X: EPL5.5, P01.112
Fragile-X syndrome: P01.094
Fragile-X: P01.111
Fraser syndrome: P03.73, P07.052
Frataxin: C07.2, P06.110
FRAXA: P01.110, P01.113, P01.116, P09.27
FRAXE: P01.095
FRDA gene: P06.110
Frecuency of disease: P07.072
Free fetal DNA: P03.09
Freidreich Ataxia: P06.181
French Association: P09.10
frequency of mutation: P07.053
FRG1: C12.2
Friedreich ataxia: C07.2
Friedreich: P06.110
FRMD7 gene: P01.369
frontonasal dysostosis: C01.6
frontonasal dysplasia: P01.288
Fryns syndrome-like phenotype: P03.77
FSH-R: P07.054
FTL: P05.085
FTO: P01.096
fuel-oil genotoxicity: P02.182
Functional analysis: P04.017
functional disomy: P01.086
functional genomics: P08.03
functional screen: S04.3
Functional SNP: P08.31
functional studies: P06.198
fusion gene: P04.186
fusion genes: S08.3
FVII: P01.291
FXII 46C→T mutation: P06.319
FXTAS: P01.091, P01.097, P01.098
G protein-coupled receptor: PL2.3
G278R: P03.75
G72 gene: P06.162
GABBR1: P06.266
Galactosaemia: P01.058
galactosemia: P05.053, P09.22
Galloway-Mowat syndrome: C01.5
GALT gene: P01.058
γ-globin: P10.05, P10.17
GAMT: P05.029
Gap junction: P05.054
GAP protein: P04.134
Gastric adenocarcinoma: P04.145
Gastric CA: P04.191