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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

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