2008 Barcelona - European Society of Human Genetics

Keyword Index
RYR1: P05.173
S100A2 somatic mutation: P04.198
Saethre-Chotzen syndrome: P01.141,
P01.154
salivary gland tumors: P04.199
Sandhoff: P01.068
Sanfilippo C Syndrome: P01.069
Sarajevo, Bosnia and Herzegovina: P07.079
sarcoidosis: P06.259
Sardinia: C08.3
Sardinian population: P07.075
Satb2 gene: P02.144
satellite: P02.195
SCA: P06.260
SCA1: P07.111
SCA10: P05.174
SCA3: P05.175
SCA8: P05.189
SCAs: EP12.2
SCE and MN: P02.108
sceletal size: C13.1
schizophrenia: C13.6, P06.006, P06.035,
P06.063, P06.085, P06.245, P06.251,
P06.261, P06.262, P06.263, P06.264,
P07.030, P07.042, P07.112
science communication: EPL5.3
SCN1A: P05.095, P05.176
SCN4B gene: P05.096
SCN5a: P05.177
SCNN1A: P01.328
screening programs: P03.17
Screening: P02.032, P05.173, P07.106,
P09.36, P09.45, P09.65, P09.66
SDHB: P04.143
SDHD: P04.143
SEC23A: P01.268
seckel syndrome: C12.1
Seckel-syndrome: P05.178
Second trimester screening: P03.42
segmental aneusomy risk: P09.60
segregation analysis: P02.187
segregation patterns: P09.41
segregation: P02.098
seizures: P01.298, P02.077
Selegiline: P01.280
SEMA6B: P04.064
seminoma patients: P02.239
semi-quantitative fluorescent multiplex PCR:
P01.346
senescence: S14.1
senile-appearance: P01.349
sense making: EP10.21
sensorineural hearing loss: P02.079, P10.22
sensory loss: P05.074
Sentinel anomalies: P01.003
sepsis: P06.147
sequence: P08.87
Sequence-Based Typing: P08.42
sequencing vs StripAssay: P05.045
sequencing: C05.3, P04.191, P06.249
Sequestosome: P01.163
SERCA2: P06.321
serotonin receptor: C08.2, P08.69
serotonin: P06.171, P06.179, P06.214
services: P09.42
sever combined immunodeficiency disorder:
P06.265
severe combined immunodeficiency (SCID:
P10.23
Severe Combined Immunodeficiency:
P05.179
severe oligozoospermia: P02.237
sex assignment: P02.099
sex chromosomal aneuploidies: P02.242
sex chromosome mosaicism: P02.222
sex chromosomes: P02.196, P02.215
sex reversal: P01.123, P02.097
sex selection: P02.100
Sézary’s syndrome: P04.078
SF9: P01.291
SHFM3: C11.5
SHH: P01.169
Short rib-polydactyly: P01.142
Short stature: P01.143, P01.166, P01.329,
P06.250, P10.24
short tandem repeat (STR): P07.113
Short Tandem Repeats: P07.114
shox: P01.164, P01.165, P01.166
SHOX2: P05.180
Siberian populations: P07.102
siblings: P01.326
Sickle cell anemia: C08.4
Signal transducer and activator of
transcription 4: P06.257
silent mutation: P05.024
Silver-Russell: P02.060
Simple Tandem Repeat markers: P05.213
Simulation of dynamic spread SCA1:
P07.121
single cell PCR: P03.22
Single nucleotide polymorphism (SNP):
P06.106, P06.205
single nucleotide polymorphism: P07.027,
P08.70
Single nucleotide polymorphisms: P06.266
single-molecule: C05.6
sirenomelia: P01.357, P01.358, P01.359
sisters: P01.044
Site directed mutagenesis: P08.60
size standard: P08.71
Sjögren syndrome: P06.267
skeletal dysplasia: P01.144, P01.145,
P07.115
skeletal muscle cell: P06.275
skeletal: P01.146
skin disorders: P01.276
skin: P02.113, P05.054
SKK11: P06.268
SLC16A2: P01.100
SLC22A12: P01.077
SLC26A2 gene: P01.129
SLC26A4: P05.073
SLC2A9 (GLUT 9): C08.6
SLC2A9: P06.303
Slc3a1 and Slc7a9: P01.053
SLC40 A1: P05.075
SLC40A1: P05.076
SLC6A8: P05.029
SLC7A7 mutations: P05.116
SLC9A6: P02.061, P02.062
SLOS: P03.76, P07.116
Slovak population: P01.224
SM22alpha: P08.36
SMA: C14.3, P06.269, P06.270, P08.72
SMAD4: P04.007
small supernumerary marker chromosome:
P02.197
small-for-gestational-age births: P06.081
SMARD: C14.3
SMEI: P05.176
SMN1 gene: P01.218
SMN1/SMN2 copy numbers: P06.270
SMN1: P05.188, P10.26
SMN2 copies: P01.219
SMN2 expression: P10.26
SMPD1 gene: P01.045
SMRT array: P08.73
SNCA: P06.224
Sniplotypes: P07.039
SNP array: P02.097, P02.198
SNP arrays: P02.067
SNP genotyping: P06.253, P07.118
SNP profiling: P08.85
SNP/mutation detection: P08.74
SNP: C10.3, P01.216, P04.097, P04.098,
P06.005, P06.099, P07.006, P07.117,
P08.08, P08.10, P08.67, S12.2
snp-array: P01.258
SNPs: P01.010, P04.021, P06.185
SNP‘s: P05.211
SNRPN: P08.63
social influence: EP06.3
SOD 1: P03.04
SOD1: P05.181
software: P01.320, P06.154, P08.87
Somatic mosaicism: P01.336
Sonic Hedgehog gene: P01.294
SOS1 mutation: P01.181
SOS1: P01.176, P01.177, P01.184
Sotos syndrome: P05.182, P05.183
Sotos-like phenotype: P01.341
South africa: P09.21
South American populations: P06.217
Sox8: P02.238
SOX9 gene: P01.150
Sox9: P02.238
Spain and Portugal: P01.058
Spain: P10.16
SPAST: P01.360
Spastic paraparesis: P01.351
Spastic paraplegia: P05.184
spastin: P05.083, P05.212
Spatcsin and Thin Corpus Callosum:
P05.185
Specific genetic diagnoses: P07.014
Specific Language Impairment (SLI):
P06.271, P06.272
Specific suicide gene therapy: P10.25
speech delay: P02.095
speech problems: P02.191
sperm DNA: S08.2