2008 Barcelona - European Society of Human Genetics

Keyword Index
TLR system: P06.285
TLR4: P06.138
TMC1: P06.125
TMEM43: C02.4
TNF/LTA genes: P06.295
TNFB gene: P06.296
TNF-α: P04.175
toll-like receptor 4: P06.286
tooth agenesis: P01.364
TOR1A: P06.109
total fetal chromosomopathy: C09.2
Tourette Syndrome: P07.125
TP 53: P04.038
TP53: P01.365, P04.155, P04.156, P04.202
TPH1: P07.122
TPH2: P05.201
T-protein: P09.46
tracheo-esophageal fistula: P02.079
Training: P09.71
TRAMP: P04.154
Transactivation domain: P05.009
transcription factor: P05.060, P05.104
transcription regulation: P08.43
transcription: P01.168
transcriptome: P08.33, P08.41
transcriptomics: C05.3, P06.275
transfection: P08.46, P10.15, P10.17
Transforming growth factor beta-1 gene:
P06.029
Transforming growth factor-beta 1 gene:
P04.203
transitory weakness: P01.212
translation: P05.150
translocation (15;16): P02.206
translocation (18;21): P02.207
translocation carier: P09.72
translocation: P01.359, P02.148, P02.179,
P02.203, P02.204, P02.205
translocations: C10.4
transmembrane protein: P06.094
Transmission Disequilibrium: P06.034
transnational: C14.1
transocation: P02.098
transplantation: P04.152, S10.1
Transposons: P06.114
transthyretin: P07.009
Treacher-Collins Syndrome: P01.366
treatment: P10.20
tricho-rhino-phanageal-syndrome: P01.168
trigonocephaly: P02.176
triphalangeal thumb polysyndactyly: P01.167
Triphalangeal thumb: P01.169
triplet expansions: P05.189, P06.114
Triplet repeat expansion diseases: EPL5.5
triplet repeat expansion: P01.094
triploidy: P03.48
trisomies 13 and 18: P02.208
trisomy 10q: P02.083, P02.210
trisomy 13: P02.084, P02.158, P03.65
Trisomy 16p: P02.211
trisomy 18: P03.66, P03.69
trisomy 20 mosaicism: P03.67
Trisomy 21: P03.08, P03.16
trisomy 22: P02.212
trisomy 2p syndrome: P01.305
trisomy 4p: P02.046
trisomy 5p: P02.213
Trisomy 7 mosaicism: P03.68
trisomy 8 mosaic: P02.085
Trisomy 9: P04.107
Trisomy/duplication: P02.142
trisomy: P02.075, P02.150, P02.209
TrkB: P05.105
Trolox: P10.27
trombosis: P08.80
trophoblasts: P03.21
Troponin: P08.11
TRPS1: P01.168
tryptophan hydroxylase gene: P06.287
Tryptophan Hydroxylase-1 gene: P07.122
TSC1: P05.202
TSC2: P05.202
TSD: P01.070
TSH: C08.3
TSPY gene: P02.239
TUB gene: P06.288
tuberculosis: P06.289
Tuberous Sclerosis: P05.202, P06.290
Tubular dysfonction: P05.158
Tumor necrosis factor alpha: P06.291
tumor suppressor gene: P02.049, P04.194
tumor suppressor: P04.099
Tunians, Berbers, Andalusians: P07.113
Turcot syndrome: P04.204
Turkish population: P05.045, P05.051,
P07.126
Turner sindrom: P02.215
Turner syndrome: P02.085, P02.157, P03.18
Turner: P02.214
twin: P05.123
two cases: P05.146
Type 1 Diabetes Mellitus: P06.296
Type 1 diabetes: P06.247, P06.292,
P06.293, P06.294, P06.295
Type 2 diabetes mellitus: EP12.3, P06.022
type 2 diabetes: EPL1.4, P06.024, P06.142,
P06.145, P06.229, P06.297, P06.298,
P08.78, PL2.2
Type III Collagen: P05.036
typical antipsychotics: P06.299
tyrosine kinase: P04.117
Tyrosinemia: P01.078
UBE1: C07.4
UBE3A: P02.054
UCMD: P06.057
UCP2: P07.126
UCP3: P06.300, P07.126
UGT1A: P07.127
UGT1A1: P07.128
ulcerative colitis: P06.068, P06.070, P06.071
ulna aplasia: P02.086
ULS: P08.30
Ultra High Throughput Sequencing: P08.79
ultrasound findings: P03.69
Ultrasound scan: P01.150
ultrasound: P03.65, P03.74
ultraviolet radiation: P04.161
UMOD mutation: P05.203
UMOD: P06.168
unbalanced aberration: P02.143
UNC13D: P05.041
UNC5 genes: P04.052
uncertain variants: P01.236
unclassified sequence variants: C12.6
unclassified variants: P04.020, P04.068
understanding: P09.30
undiagnosed genetic syndrome: EP05.4,
EP14.22
Unertan syndrome: C07.5
unfavorable pregnancy outcomes: EP01.11
uniparental disomy: P02.150, P03.70,
P05.080
unipolar depression: P06.026
universal primer: P08.80
Unmethylated full mutation: P01.093
Unspecified: P06.301
untreatable diseases: C14.5
Unvericht-Lundborg: P01.367
uPA,MMP9,TP,AR: P04.145
UPD: P06.302
UPD11p: P02.057
UPD16: P01.359
upper limb defects: P01.136
uptake: EP01.06, EP08.2
UQCRQ: C03.1
URAT1: P01.077
ureteral duplicity: P06.274
uric acid: P06.303
urocanase gene: P01.071
urocanic aciduria: P01.071
urolithiasis: P06.304
USF1: C02.5
Usher syndrome: C12.4, C15.5, P05.204,
P06.306, P06.314
Usher: P06.305
usherin: P05.205
uterine leiomyoma: P06.307
uterine polyposis: P06.133
uveal melanoma: P04.205
V(D)J-recombination: P08.18
vaccine: P08.14
VACTERL association: P01.148
Valachs: P07.129
validation: P02.025, P09.69, P09.70, P09.73
Values: P03.46
VANGL1: P04.206
Variable expresivity: P01.174
variance component based linkage analysis:
P06.194
variance-components analysis: P06.008
variant translocation: P04.090
variant: P06.111
Variation: C13.4, P07.069, P08.81
Vascular cutaneous: P01.368
vascular disease: P06.237
VDR: P06.189, P07.021
VEGF: P06.308, P06.309, P06.310, P06.311
VEGFR3: P01.172, P01.173
velocardiofacial syndrome: P02.064
venous malformation: C02.2