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 />
spinal muscular atrophy: P05.35, P10.77,<br />
P10.78, P12.156, P14.20, S02.3<br />
spinal neur<strong>of</strong>ibromatosis: P02.137<br />
SPINK1: P12.035<br />
SPINK5 gene: P09.085<br />
SPINK5: P09.016<br />
Spinocerebellar ataxia type 7: C03.6<br />
Spinocerebellar ataxia: P02.109<br />
Spinocerebellar ataxias: P12.116<br />
spinocerebellar degeneration: P01.47<br />
SPLICING FACTOR: P03.158<br />
SPLICING: P12.143, P12.161, P16.42,<br />
P17.46<br />
SPONATRIME DYSPLASIA: P02.165<br />
spondyloarthropathies: P03.028<br />
Spondylocostal dysostosis: P02.161<br />
Spondyloepiphyseal dysplasia tarda:<br />
P02.166<br />
spontaneous abortion: P03.001, P03.053<br />
spontaneous abortions: P03.054, P04.01,<br />
P04.17<br />
sporadic case: P12.152<br />
sporadic colon cancer: P06.039<br />
sporadic colorectal adenocarcinomas:<br />
P06.208<br />
sport: P01.01<br />
SPRED1: C18.4<br />
squamous cell carcinoma: P07.11<br />
SR proteins: P11.063<br />
SRD5A1: P06.088<br />
SRP: P12.018<br />
sry: P03.051, P03.058, P03.200<br />
SSADH deficiency: P13.18<br />
SSAT gene: P09.117<br />
SSCP: P12.150<br />
Stargardt disease: P12.005<br />
Steinfeld syndrome: P03.139<br />
stem cell: P11.115<br />
stem cells: S02.2, S12.1, S12.3<br />
STK11: P06.164, P06.165, P12.129<br />
STR analysis: P06.089<br />
STR markers: P05.61<br />
STR: P02.176, P10.90<br />
stress cardiomyopathy: P16.31<br />
stroke: P09.116, P17.42<br />
structural rearrangement: P03.189<br />
structural variation: P11.116<br />
Structural variations: P11.117<br />
STXBP1: P12.124<br />
subfertility: P04.30<br />
subtelomere deletion: P03.002<br />
subtelomere imbalances: P03.168<br />
subtelomeric rearrangements: P02.075<br />
subtelomeric: P03.169<br />
Succinate Dehydrogenase: P06.090<br />
SUCLG1: P13.45<br />
Sudden cardiac death: P16.07<br />
Sudden unexplained death: C13.2<br />
SUDEP: P17.63<br />
suicide behavior: P09.118<br />
Suicide: P09.117<br />
surfactant: P05.31<br />
surgical aspects: P14.16<br />
surgical treatment: P02.003, P03.148<br />
survey: P01.28<br />
survival motor neuron: P12.155<br />
susceptibility genes: P12.095<br />
Suz12: P06.180<br />
swine foetal fibroblasts: P11.125<br />
SYCP3: C07.1<br />
symphysis pubis: P04.31<br />
syndrome: P02.138, P03.110<br />
syndromes with limb reduction: P02.156<br />
synphilin-1: C12.2<br />
Syntelencephaly: P02.048<br />
Systemic lupus erythematosus: P08.60,<br />
P09.119, P09.120<br />
systemic sclerosis: P08.61<br />
t<br />
T cell therapy: P06.091<br />
t(11;14)(q24.1;q32): P06.199<br />
t(11;22) translocation: C16.1<br />
T2D: C10.1<br />
T2DM: P09.121<br />
T8mS: P03.144<br />
tab2: C11.1<br />
Tachykinins: P08.14<br />
tagging SNPs: P17.26<br />
Taiwan: P13.39<br />
Takotsubo cardiomyopathy: P16.29<br />
TAM receptors‘ genes: P17.25<br />
Tandem mutation: P06.154<br />
tannery industry: P03.013<br />
TaqMan Array: P11.010<br />
TaqMan: P11.022, P11.115<br />
TAR Syndrome: P02.167<br />
targeted nucleotide exchange: P14.21<br />
targeted therapy: S04.1<br />
Tbx1: C11.3<br />
TBX5: P02.049<br />
T-cadherin: P06.004<br />
T-cell: P06.092<br />
TCF2: P03.100<br />
TCF4 gene: C02.4<br />
TCF7L2: P09.127, P13.46<br />
TDT: P09.027<br />
teaching: P01.48<br />
Technical assessor: P15.11<br />
technical validity: P15.04<br />
technique: P12.064<br />
technology development: P11.085<br />
Teebi hypertelorism: C04.6<br />
Telomere attrition rate: P10.79<br />
telomere length: P04.32<br />
Telomere: P02.031<br />
Temtamy preaxial brachydactyly syndrome:<br />
C04.5<br />
TERC: P07.12<br />
terminal deletion 1q: P03.002<br />
testicular germ-cell tumour development:<br />
P06.025<br />
Testing: P15.09, P16.08<br />
teststrip: P06.207<br />
tetrasomy 9p: P03.128, P03.140, P03.141<br />
Tetrasomy X syndrome: P03.055<br />
TF gene: P09.078<br />
TF: P17.52<br />
TFAP2A: P12.025<br />
TGFA, TGFB3 and BCL3 candidate genes:<br />
P09.026<br />
TGFbeta: P12.033<br />
TGFBR1: P02.065, P16.17<br />
TGFBR2: P02.065, P02.066<br />
TGF-β1: P08.24<br />
thalassaemia: P01.46, P02.177, P10.73,<br />
P11.118<br />
thalassemia intermedia: P02.182<br />
thalassemia: P02.175, P02.176, P02.178,<br />
P02.179, P02.181<br />
thalidomide: P06.193<br />
the detectable genome: P11.113<br />
The index <strong>of</strong> endogamy: P10.80<br />
the novel mutation: P12.008<br />
The prevalence <strong>of</strong> hereditary eye<br />
pathology: P10.81<br />
the α-synuclein gene (SNCA): P17.57<br />
therapy: P06.205, P12.067<br />
thin corpus callosum: P12.085<br />
Thiopurine methyltransferase (TPMT):<br />
P09.122<br />
Thoracic aorta: P17.45<br />
threading: P12.091<br />
thrombocytopenia: P02.167<br />
thromboembolic: P14.17<br />
thrombophilic genes: P09.107<br />
thyroid cancer susceptibility: C06.4<br />
thyroid dyshormonogenesis: P09.123<br />
thyroid peroxidase gene: P09.123<br />
thyroid: P13.09<br />
Thyrosine Hydroxylase: P14.18<br />
TINF2 gene: P02.034<br />
TK2: P16.54<br />
TLR3: P06.046<br />
TLR4 gene: P09.057<br />
TMPRSS6: P12.098<br />
tMTHFR: P13.47<br />
TNF-alpha gene: P09.039
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