2009 Vienna - European Society of Human Genetics
2009 Vienna - European Society of Human Genetics
2009 Vienna - European Society of Human Genetics
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Keyword Index<br />
TNFalpha: P08.61, P09.102<br />
TNF-alpha: P09.124, P10.82<br />
TNFRSF1A gene: P12.157<br />
TNF-α promotor polymorphism: P09.082<br />
TNFα: P10.20<br />
TNRC9: P06.135<br />
Tongue birth defects: P02.110<br />
Toxic fumes: P04.03<br />
toxic waste: P05.36<br />
TP53: P06.021, P06.118, P11.090<br />
TPM1: P06.093, P16.21<br />
Tracheoesophageal fistula: P02.111<br />
tracheooesophageal fistula: P02.037<br />
training: P01.05, P01.49<br />
transcription: C12.1, P11.105, S02.1<br />
Transcriptome: P11.023, P11.119<br />
Transforming Growth Factor β (TGF-β):<br />
P08.17<br />
transient hypermutability: C15.3<br />
translocation (x,7): P03.142<br />
Translocation (Y;3): P03.185<br />
translocation X;2: P03.143<br />
translocation: P03.056, P05.50, P06.200,<br />
P08.62<br />
transplantation: P13.46<br />
trans-splicing: C12.5<br />
TRAPS: P12.157<br />
Trefoil Factors: P06.094<br />
tri-dimensional computed tomography:<br />
P05.06<br />
triglicerydes concentration: P17.43<br />
Triglycerides: P09.091<br />
trigonocephaly: P03.111<br />
TRIM: P12.166<br />
TRIM8: C06.3<br />
trinucleotide diseases: P12.158<br />
trinucleotide expansion: P12.090<br />
trinucleotide repeat instability: P12.092<br />
Triple PCR: P16.52<br />
trisomy 16: P04.29<br />
trisomy 18: P03.047, P03.113<br />
Trisomy 1q: P06.182<br />
Trisomy 21 syndrome: P05.62<br />
trisomy 21: P03.057, P05.37, P05.38,<br />
S09.2<br />
trisomy 2p syndrome: P03.036<br />
Trisomy 8 mosaicism: P03.144<br />
trisomy 9p: P03.128<br />
trisomy: P03.137<br />
tristetraprolin: P06.095<br />
tRNA splicing endonuclease: C03.5<br />
tRNA: P13.48<br />
TRNC15: P17.61<br />
trombophillia: P04.11<br />
Trp64Arg polymorphism: P17.14<br />
TRPS I: P12.159<br />
TRPS1: C04.4<br />
TSER: P06.138<br />
TSHR: P13.09<br />
TSPY1: P03.196<br />
TUBB2B: P02.098<br />
tuberous sclerosis: P14.22, S04.1<br />
TUBGCP5 and CYFIP1: P03.062<br />
tumor necrosis factor-alpha: P06.172<br />
tumor suppressor gene: P06.081<br />
tumour-free surgical margins: P07.11<br />
Turkish: P08.29<br />
Turner syndrome: P03.059, P03.080,<br />
P14.23<br />
Turner: P03.058<br />
twin pregnancy: P08.58<br />
twin: P03.098<br />
twins: P05.39, P10.85<br />
TWIST1 gene: P03.092<br />
Two regions <strong>of</strong> Kirov area: P10.81<br />
TYK2: P09.120<br />
TYMS: P04.12, P06.096<br />
type 1 diabetes (T1DM): P09.104<br />
type 1 diabetes: P09.125, P11.099,<br />
P11.120<br />
type 2 diabet: P17.11<br />
Type 2 diabetes mellitus: C10.1, P09.127<br />
Type 2 diabetes: C05.1, C18.2, P08.12,<br />
P08.27, P08.59, P08.63, P09.126, P17.06<br />
type I error: P08.40<br />
Type VIII Osteogenesis Imperfecta: C08.2<br />
type XVII collagen: P12.068<br />
Tyrosinemia: P12.057<br />
U<br />
Ubiquitin Specific Protease: P06.019<br />
ubiquitination: P12.017<br />
UGT1A1 gene: P11.049<br />
UGT1A1: P05.20, P06.097, P09.001<br />
Ultraconserved elements: P11.121<br />
ultrasonography: P02.151, P05.12, P05.40<br />
Unbalanced <strong>of</strong>fspring: P01.20<br />
unbalanced recurrent translocation:<br />
P03.180<br />
unbalanced translocation: P03.145<br />
unclassified variant: S05.2<br />
unclassified variants: P12.162<br />
Unilateral ventriculomegaly, familial:<br />
P02.112<br />
uniparental disomy: P03.146, P03.147<br />
unipolar depression: P08.64<br />
Untyped variants: P10.48<br />
UPD: C15.2, P08.65<br />
UPF3B: P12.110<br />
uptake: S03.2<br />
USH2A: P10.83<br />
Usher syndrome: P08.66, P10.83,<br />
P12.160, P12.161, P12.162<br />
uterine leiomyoma: P10.10<br />
uterine leiomyosarcoma: P06.098<br />
UVA and UVB: P06.086<br />
uveal melnoma: P06.099<br />
V<br />
valproic acid: P14.20<br />
Vangl genes: S15.1<br />
Vangl2: S15.1<br />
variability: P06.153<br />
variance component method: P08.41<br />
Variant Detection: P15.14<br />
variant Ph translocation: P06.201<br />
variants: P11.051, P11.102<br />
vascular Ehlers-Danlos syndrome:<br />
P12.163<br />
vascular endothelial factor: P04.16<br />
vasculites: P02.113<br />
vasoactive and proteolytic systems:<br />
P09.125<br />
vasopressin receptor: P10.84<br />
VDR gene: P17.38<br />
VDR: P08.67<br />
VEGF polymorphism: P12.164<br />
Vegf: P11.122<br />
VEGFR3: P12.093, P12.132<br />
VENOUS THROMBOSIS: P02.114,<br />
P09.064<br />
ventriculomegaly: P05.11<br />
VHH: P06.091<br />
vitamin B12: P10.85, P13.08, S11.1<br />
vitamin D receptor gene: P09.128<br />
vitamin D receptor genes, collagen type I<br />
genes: P04.31<br />
VKORC1: P10.86<br />
VMD: P12.091<br />
VMD2/BEST1 gene: P02.053<br />
VNTR: P12.061<br />
vocal cord palsy: P02.094<br />
Von Hippel-Lindau syndrome: P06.100<br />
vPh chromosome: P06.171<br />
VPS13B: P12.038<br />
VUR: P09.040<br />
VWA-THO1: P08.38<br />
W<br />
waardenburg syndrome: P02.115, P03.068<br />
Walker-Warburg syndrome: P05.41<br />
WBS: P11.124<br />
WFS1 gene: P12.168<br />
WGA: P05.54, P15.02<br />
WGAS: P11.123<br />
Whole Genome Analysis: P03.106<br />
Whole Genome Duplication: P06.003<br />
whole genome sequence: P11.083