European Human Genetics Conference 2007 June 16 – 19, 2007 ...
European Human Genetics Conference 2007 June 16 – 19, 2007 ...
European Human Genetics Conference 2007 June 16 – 19, 2007 ...
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Keyword Index<br />
SPG11: C37<br />
SPG4: P0249<br />
Spinal Muscular Atrophy: P0251, P0869, P1338,<br />
P1393<br />
SPINK1: P0684<br />
Spinocerebellar ataxia: P1217<br />
splice: C49, P1267, P1295<br />
splice site mutation: P0790<br />
Splicing: P0565, P0799, P0840, P0883<br />
Splicing defect: P0668<br />
Splicing mutation: P0699<br />
Split hand/foot malformation: P1105<br />
split ubiquitin system: P0850<br />
Spondylo-epi-metaphyseal dysplasia: P0252<br />
Spondyloperipheral dysplasia: P0083<br />
spontaneous abortions: P0340, P0812<br />
sporadic: P0541<br />
Sporadic Breast Cancer: P0617<br />
sport successfulness: P0978<br />
sports: P1202<br />
Squmous cell carcinoma of esophagus: P0618<br />
SRD5A2: P1078<br />
SRNS: P0206<br />
SRPX2: P1296<br />
SRY: P0406, P0436<br />
sSMC: P0409<br />
STAT 6: P0674<br />
Stature: P0988<br />
stem cells: C59, P1403<br />
sterility: P0410<br />
steroid 21-hydroxylase: P1093<br />
STR loci: P1218<br />
STRADalpha: P06<strong>19</strong><br />
Stripassay: P1297<br />
stroke: P0870, P1106<br />
stroma: P0608<br />
structural variation: S26<br />
students: P1327<br />
subtelomere: P0396<br />
subtelomeric abnormalities: P0802<br />
subtelomeric analysis by MLPA: P0285<br />
Subtelomeric FISH: P0300<br />
subtelomeric rearrangements: P0187, P0411, P0771<br />
sudden cardiac death: P0652, P0769, P0979, P1394<br />
suicide: P1107<br />
SUMF1: P0806<br />
superficial bladder cancer: P0552<br />
SURF1: P0155<br />
survey: C80<br />
surveyor endonuclease: P0<strong>19</strong>8<br />
survival motor neuron 1 gene: P1393<br />
Susceptibility: C52, P0804, P1200<br />
Switzerland: P1361<br />
SYBR Green I: P1298<br />
SYCP3: P05<strong>19</strong><br />
syndactyly: P0098<br />
Syndrome: P0030, P0210<br />
syntaxin 1A: P0952<br />
syringomyelia: P1108<br />
Systemic Lupus Erythematosus: P1109<br />
T cell therapy: P0620<br />
T-1131C: P0650<br />
tagging SNPs: P0950<br />
tandem mass spectrometry: P0763<br />
TaqMan assays: P1241<br />
TAR syndrome: P0871<br />
TAS2R38 gene: P0917<br />
Tau: P0640<br />
tau gene: P0872<br />
TAZ: P0032, P0779<br />
TBP: P0237, P0994<br />
TBX1: P0253<br />
Tc1 mouse: S28<br />
T-cell lymphoma: P0621<br />
TCF4: C41, C42<br />
TCIRG1 gene: P0213<br />
TCR gamma rearrangements: P0621<br />
TDT: P0930<br />
Technology assessment: C81, P1259<br />
Telomere: P0021, P0302, P05<strong>16</strong><br />
Telomere capture: P0412<br />
Temporal lobe epilepsy: P1096<br />
termination of pregnancy: P1377<br />
TERT: P0254<br />
tertiary center: P1335<br />
tetrasomy/trisomy/disomy 12p: P0379<br />
text mining: C23<br />
TFAP2B: P0587<br />
TGFB1: C<strong>16</strong>, P0951<br />
TGFBR2: P0971<br />
TGIFLX/Y: P0609<br />
TGM1 gene: P0777<br />
Thalassemia: P0255, P0485, P0803, P0873, P0987,<br />
P1137, P1170, P1273, P1356, P1390<br />
therapeutic response: P1299<br />
therapy: P1400<br />
thoracic aortic aneurysm: P1300<br />
thrombophilia: P0796, P1301<br />
Thrombosis: P0874<br />
thromophilia: P0875<br />
Thyroid cancer: P0598, P0610, P0622<br />
Tibeto-Burman: P12<strong>19</strong><br />
tibial agenesis: P0106<br />
tilling array: C71<br />
tissue engineering: P0703<br />
tissue-specific mosaicism: P0463<br />
TITF-1: P0876<br />
Titin: P0705, P0877<br />
TLR: P1184<br />
TLR4 gene: P1178<br />
TMD: P0877<br />
TNF-alpha: P0623, P0860, P0949, P0964, P1071<br />
TOB1: P1269<br />
Toll Like Receptors: P0945<br />
tooth number: P0185<br />
Tourette Syndrome: P1110<br />
TP53: P0573, P0574, P0611, P0624<br />
TPM3: P0200<br />
TPMT: P1220<br />
TPOX: P1221<br />
trabecular dysgenesis: P0387<br />
training: P1354<br />
transcription factor: P1231<br />
transcription start site: C70<br />
Transcription-Coupled Repair (TCR): P0058<br />
Transgenic mouse model: C62<br />
Transib: P1242<br />
translational research: P1395<br />
translocation: P0033, P03<strong>19</strong>, P0376, P0413, P0414,<br />
P0415, P0571, P1024<br />
translocation 4;15: P04<strong>16</strong><br />
transmission disequilibrium test: P1154<br />
Transplantation: P0946<br />
transport: P0437<br />
transverse earlobe creases: P0250<br />
Treacher Collins Syndrome: P0417<br />
tri 12p: P0418<br />
tricho-hepato-enteric syndrome: P0146<br />
trigonocephaly: P0288, P0323<br />
TRIM32: P1111<br />
Trinucleotide repeat expansion: C62, P0993<br />
Triple X syndrome: P0409<br />
triploid fetus: P1320<br />
triploid/diploid mosaicism: P0036<br />
triploidy: P0482<br />
Trisomy: P0403<br />
trisomy 10q: P0256<br />
Trisomy 11q: P04<strong>19</strong><br />
trisomy 13: P0257<br />
trisomy 18: P0229, P0258, P0486<br />
trisomy 21: C29, P0420, P0441, P0487<br />
trisomy 21 mosaicism: P0451<br />
trisomy rescue: P0488<br />
TRMA: P0259<br />
Trombosis: P0878<br />
trophoblasts: C27<br />
troponin-T gene: P0769<br />
true chimerism: P0451<br />
trypanosoma cruzi: P1<strong>16</strong>0<br />
trypsinogen: P0685<br />
T-score: P0214<br />
TSGA10: P05<strong>19</strong><br />
TSPY gene: P0879<br />
TUBA3: P0880<br />
tubulin: P0069<br />
tumor markers: P0881<br />
Tumor Necrosis Factor: P1112<br />
tumor necrosis factor-α: P0882<br />
tumor suppressor: P0615<br />
tumor tissue: P1246<br />
tumour: P0573<br />
tumour spectrum: C51<br />
Tumours: P0586<br />
Tunisian family: P1026<br />
Tunisian population: P0721<br />
Turkish: P0694<br />
Turner syndrome: P0260, P0261, P0312, P0337,<br />
P0428, P0489, P1113, P1328, P1412<br />
TWINKLE: P1114<br />
twins: P0103<br />
Type 1 Diabetes: C15, P1115, P11<strong>16</strong>, P1302<br />
type 1 error rate: P1000<br />
type I collagen: P1108<br />
TYROBP: P1039<br />
tyrosine kinase: P06<strong>16</strong><br />
UBE3A: P0646<br />
UBE3A gene: P0262<br />
Ubiquinone: C10<br />
UGT1A1: P1098<br />
ultraconserved: P1303<br />
unbalanced chromosome aberrations: P0421<br />
Unbalanced subtelomere translocations: P0422<br />
unclassified variants: P0564<br />
Uniparental disomy: P0242<br />
Uniparental dysomy: P0263<br />
upper limb anomalies: P0221<br />
Uptake of genetic services: P1312<br />
Urea cycle defects: P0856<br />
urolithiasis: P0828<br />
USF1: C65, P0905, P1304<br />
USF2: P1304<br />
Usher syndrome: P0264, P0883<br />
uterine leiomyoma: P0265<br />
uveal melanoma: P0625<br />
V(D)J recombination: P1242<br />
Vaccine: P1117<br />
validation: P1252, P1279, P1322, P1396<br />
variant: P1287<br />
variants: P0027<br />
vascular lesion: P0266<br />
VDR: P1058, P1118, P11<strong>19</strong><br />
VEGF: P1009<br />
VEGFR3: P0783<br />
Velocardiofacial syndrome: P0283<br />
Very Long PCR: C<strong>19</strong><br />
vesicles: P0437<br />
VHL: P1120<br />
VHL gene: P0626<br />
violence: P1373
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