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 />
P1085<br />
Rep1: P1104<br />
repeated measurements: P1209<br />
repeated miscarriages: P0396<br />
Reproductive choices: P1324<br />
reproductive failure: P1384<br />
resequencing: P1287<br />
Resequencing Microarray: P0758<br />
Respiratory chain: P0456<br />
results: P0301<br />
ret: P0850<br />
retinitis pigmentosa: P1210<br />
retinitis punctata albescens: P0234<br />
retinoblastoma: P0232, P0611, P0851<br />
retroposons: C69<br />
retrotransposable element: P1211<br />
Retroviral Integration Sites: C55<br />
Rett syndrome: P0<strong>16</strong>7, P0233, P0852, P0853, P1385<br />
Reverse dot blot: P0035<br />
Reynolds: P0854<br />
Rh(D) status: P0434<br />
rhabdoid tumour: P0284<br />
rhabdomysarcoma: P0548<br />
RH-D: P0483<br />
rheumatoid arthritis: P1005, P1086, P1<strong>19</strong>4<br />
RIN: P1288<br />
ring: P0309, P0397<br />
ring chromosome: P0398, P0400<br />
ring chromosome 9: P0399<br />
ring X chromosome: P0401<br />
risk: P0928<br />
risk factor: P0091<br />
Risk perception: P1386<br />
RLBP1: P0234<br />
RLS: P1087<br />
RNA: P1288, P1289, P1290<br />
RNA splicing: C62<br />
RNAi: C57, P0543<br />
RNASEL gene polymorphisms: P0612<br />
Robertsonian translocation: P0263, P0402, P0403,<br />
P0404<br />
Robin: P0055<br />
Roger Syndrome: P0259<br />
Roma: P10<strong>19</strong><br />
Romania: P1145<br />
Romany population: P1213<br />
rowing: P1065<br />
RPGR: P1210<br />
RPS<strong>19</strong>: P0704<br />
RPS24: P0704<br />
RQ-PCR: P0501<br />
RSK2 gene: P0688<br />
RSK2 mutations: P0688<br />
RSPO4 (R-spondin 4): P0647<br />
RT-PCR: P1233<br />
RUNX2 mutation: P0056<br />
Russian Siberian population: P1146<br />
RVO: P0755<br />
ryanodine receptor: P0855<br />
RYR2: P0947<br />
S.cerevisiae: P0856<br />
S.Klueva: P1387<br />
Safety: P1405<br />
salivary gand tumors: P0613<br />
salivary glands carcinomas: P0614<br />
salt sensitivity: P1342<br />
sample collection: P1291<br />
SARA2: P0643, P0789<br />
Sarcomere: P0705<br />
satellite association: P0405<br />
SCA Type II & VII: P0235<br />
SCA1: P0236, P1127<br />
SCA10: P0857<br />
SCA17: P0237, P0858<br />
SCA7: C57<br />
scalp defect: P0148<br />
SCD1: P0714, P1269<br />
Schizophrenia: C14, P0238, P1050, P1073, P1088,<br />
P1089, P1090, P1091, P1092, P1214, P1292<br />
Schwartz-Jampel syndrome: C61<br />
scleroderma: P1004<br />
Sclerosteosis: P0859<br />
SCN1A: P0976<br />
SCN1B: P0976<br />
scn9a: C04<br />
«score» analysis: P1085<br />
screening: C22, P0081, P0483, P1388, P1389<br />
Screening criteria: P1388<br />
SDH: P1060<br />
SDHB: P0562<br />
SDHD: P0562<br />
SDS: P0021<br />
Seckel Syndrome: P0239<br />
secondary abnormality: P0532<br />
secreted phosphoprotein 24: P0860<br />
segmental deletions/duplications: P0292<br />
segmental duplication: C74, P1211<br />
segregation analysis: P0471<br />
Segregation ratio distortion: P1212<br />
seizures: P0029<br />
semaphorin 6B: P0615<br />
semi circular canals: P0268<br />
seminoma: P0879<br />
Sensenbrenner syndrome: P0072<br />
Sensory ataxic neuropathy: P0861<br />
Sepsis: P0862<br />
sequence variation: P0807<br />
sequencing: P0039, P1093, P1094, P1256, P1284,<br />
P1293<br />
SERCA2: P0863<br />
serine-arginine repressor protein: P0792<br />
serotonin: P0911, P1107<br />
Serotonin receptor gene HTR2A: P1095<br />
serotonin transporter gene: P0662, P1096<br />
SERPINA1: P1097<br />
serum gamma-glutamyltranspeptidase: P0631<br />
services: P1347, P1395, S01<br />
severe combined immunodeficiency: P0864<br />
sex choromosomes disorder: P0057<br />
sex determination: P0240<br />
sex differentiation: P0240<br />
sex ratio: P0298<br />
sex reversal: P0240, P0644, P1294<br />
Sex reversal syndrome: P0406<br />
SHANK3 gene: P0285<br />
SHBG gene: P1066<br />
SHFM: P1105<br />
SHFM3: P0700<br />
shift: P0420<br />
short stature: C34<br />
Short Tandem Repeat: P1132, P1213<br />
short tandem repeats: P0435, P1150<br />
SHOX: P0407, P0865<br />
SHOX gene: P0241<br />
SHOX haploinsufficiency: P1412<br />
SHP-2: P0821<br />
Siberia and Volga-Ural region: P0809<br />
Siberian indigenous populations: P1155<br />
Siberian populations: P1<strong>19</strong>1<br />
sibling recurrence risk: P1159<br />
sickle cell: P1390<br />
Sickle Cell Anemia: P0803<br />
sickle cell disease: P1098<br />
SIDS: P1099<br />
signal pathways: P1255<br />
SIL1: P0789<br />
Silver-Russell: P0242<br />
Silver-Russell syndrome: P0866<br />
simulation: P1100<br />
SINE: C69<br />
Single cell expression profiling: C20<br />
single domain antibody: P0620<br />
single nucleotide polymorphism (SNP): P0990<br />
single nucleotide polymorphism: P1301<br />
skeletal dysplasia: P0243, P0484<br />
skin: P0822<br />
skull base chordoma: P06<strong>16</strong><br />
SLC12A3: P1<strong>16</strong>7<br />
SLC12A6: P0642<br />
SLC24A5: P1134<br />
SLC26A4: P0244, P0955<br />
SLC26A4 gene: P0966<br />
SLC26A5 (Prestin) gene: P0134<br />
SLC4A11: P0752<br />
SLC6A3: P0960, P1214<br />
SLE: P0897<br />
SLOS: P0247<br />
SLOS Incidence: P12<strong>16</strong><br />
Slovak family: P0507<br />
Slovak population: P0508<br />
Slovak Roma: P1215<br />
Slovakian population: P1213<br />
SMA: P0245, P0246, P0811, P1101, P1102, P1103,<br />
P1413<br />
small RNA: C71, P1275<br />
SMARCB1: P0284<br />
SMC: P0477<br />
SMC1: P0068<br />
SMC1L1: P0066, P0067<br />
Smith-Lemli-Opitz syndrome: P0247, P0248, P12<strong>16</strong><br />
Smith-Magenis: P1391, P1392<br />
Smith-McCort: P0712<br />
SMN: P0251, P1413<br />
SMN1: P0246, P0869<br />
SNaPshot analysis: P0648<br />
SNCA: P1104<br />
SNP: P0828, P0995, P1078, P1097, P1111, P1131,<br />
P1287, P1292<br />
SNP analysis: P0597<br />
SNP array: P0328<br />
SNP discovery: P1262<br />
SNP genotyping: P0958<br />
SNP haplotype: P1208<br />
SNP´s analysis: P1294<br />
SNPs: C52<br />
Social factors of risk: P1318<br />
Social Support: P1318<br />
SOD1 gene: P0014<br />
Software: P1297<br />
Somatic Gene Therapy: C55<br />
Somatic mosaicism: P0208, P02<strong>19</strong><br />
somatic mutation, methylation: P0626<br />
sonography: P0486<br />
SOS1: C36<br />
SOST gene: P0859<br />
Sotos: P0867<br />
South Africa: P1324<br />
Southern India: P0389<br />
SOX 10 gene: P0268<br />
SOX2: P00<strong>19</strong><br />
Spanish-Austrians dynasty: P1176<br />
SPAST: P0249<br />
spastic paraplegia: C37<br />
Spastin: P0759<br />
Spatial Gene Expression Patterns: S<strong>19</strong><br />
Spectral Karyotyping: P0333<br />
speech defect: P0736<br />
speech development: P0250<br />
Sperm: P0708<br />
Spermatogenesis: C73, P0311, P0408<br />
SPG: P0868
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