2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
Keyword Index<br />
AMACR gene: P04.182<br />
amazon: P06.163<br />
ambiguous external genitalia: P02.099<br />
Ambivalence: EPL4.2<br />
AME fusion transcript: P04.072<br />
amelogenesis imperfecta: P01.144, P05.005,<br />
P05.110<br />
amenorrhea: P02.183<br />
aminoglycoside antibiotics: C15.5<br />
AML: P04.074, P04.080, P04.081, P04.085,<br />
P04.099, P04.104<br />
amniocentesis: EP14.01, P03.35, P03.48,<br />
P03.60<br />
amniotic fluid: P03.01, P03.30, P03.53,<br />
P08.75, P10.23<br />
amplification <strong>of</strong> intermethylated sites:<br />
P04.140<br />
amyloid: C03.5<br />
amyloidosis: P07.009<br />
amyotrophic lateral sclerosis: P06.018,<br />
P06.019<br />
Analysis: P06.020<br />
ancestry: EP01.08<br />
Androgen Insensitivity: P02.139<br />
androgen receptor: P04.183<br />
aneuploidy: P02.106, P02.107, P03.13<br />
aneupoloidy abnormalities: P02.226<br />
Angelman Syndrome, Mental Retardation,<br />
Autism: P02.032<br />
Angelman Syndrome: P02.050, P02.051,<br />
P02.054, P02.056, P02.058<br />
Angelman: P02.061<br />
angiogenesis: C02.2<br />
Animal Model: P05.090<br />
aniridia: P06.021<br />
ankyloglossia: P01.135<br />
annotation: P08.27<br />
anodontia: P01.329<br />
anormal chromosomal rearrangement:<br />
P02.094<br />
Antalya: P01.013<br />
antenatal screening: EPL4.1<br />
anticoagulation: P08.82<br />
Antihypertensive: P02.108<br />
antioxidant: P06.077<br />
Antioxidants: P02.230, P10.22<br />
antipsychotic-induced parkinsonism: P06.299<br />
Antisense oligomer induced exon skipping:<br />
P10.11<br />
antisense regulation <strong>of</strong> transcription: P08.03<br />
Antisense therapeutics: C15.3<br />
Antracyclines: P10.02<br />
anxiety disorder: P02.161<br />
aorta: P01.316<br />
Aortic aneurism: P01.334<br />
aortic aneurysm: P06.323<br />
aortic stenosis: P02.052<br />
aortic valve: P01.243<br />
APC: P04.001, P04.003, P04.004<br />
Apert syndrome: P01.152<br />
aplastic anemia: P02.147<br />
Apo E gene: P06.020<br />
APO E: P06.022<br />
APOA1 gene: P06.017<br />
apoA5*2: P06.173<br />
APOA5: P06.023, P06.024, P06.173<br />
APOB: P05.048<br />
APOE: P01.105, P10.01<br />
Apoptosis genes: C15.6<br />
apoptosis: C02.1, P04.030, P04.176<br />
ARF: P05.050<br />
ARHI: P04.120<br />
ARID: P06.025<br />
ARMR: P05.122<br />
ARMS-PCR: P01.008<br />
array CGH: C04.1, C04.3, C04.5, C04.6,<br />
P02.016, P02.019, P02.022, P02.023,<br />
P02.037, P02.074, P02.082, P02.096,<br />
P02.131, P02.135, P02.173, P02.174,<br />
P02.180, P05.178, P08.25<br />
array painting: P02.197<br />
array-CGH: C01.2, C04.4, C10.2, C13.3,<br />
P01.107, P01.269, P02.017, P02.018,<br />
P02.020, P02.021, P02.024, P02.028,<br />
P02.030, P02.035, P02.086, P02.126,<br />
P02.127, P02.165, P02.211, P04.029,<br />
P04.073, P08.04<br />
arrayCGH: P02.029, P05.148<br />
array-MAPH: P02.035<br />
Arrhythmia: EP10.02<br />
arrhythmogenic right ventricular<br />
cardiomyopathy: C02.4<br />
ARSA: P01.042<br />
art: P02.216<br />
arterial hypertension: P07.010<br />
Arthrogryposis: C03.4, P10.03<br />
Artificial inteligence: P08.05<br />
ARVD/ARVC: P05.091<br />
ARVD5: C02.4<br />
ARX: P01.109<br />
AS: P02.059<br />
ASC: P05.003<br />
ascending or U-shape audiometric curve:<br />
P05.207<br />
ascorbic acid: P10.08<br />
ASF/SF2: C15.6<br />
aspm: P01.318, P06.175<br />
association study: P06.056, P06.061,<br />
P06.079, P06.179, P06.240, P06.249,<br />
P06.257, P06.297<br />
association: P06.011, P06.026, P06.041,<br />
P06.087, P06.104, P06.121, P06.169,<br />
P06.176, P06.264, P06.287, P06.312, PL2.2<br />
associations: P07.070<br />
asthma: P06.027, P06.028, P06.029,<br />
P06.140, P07.011<br />
Asymptomatic neurocutaneous melanosis:<br />
P01.244<br />
AT: P06.180<br />
«at-risk» relatives: EP04.1<br />
AT1R: P07.015<br />
ataxia telangiectasia: P02.109<br />
ataxia: P01.097, P05.059<br />
ATG16L1: P06.069<br />
atherosclerosis: P05.042, P06.030, P06.031<br />
athlete: P06.129, P06.209, P06.233,<br />
P06.238, P06.300<br />
athletes: P06.212, P06.309, P07.003<br />
ATM: P04.121, P05.006<br />
atopic bronchial asthma and lung<br />
tuberculosis: P06.282<br />
atopic eczema: P06.032, P07.012<br />
ATP2A2: P04.122<br />
ATP2A3: P04.122<br />
ATP6V0A4: P05.014<br />
ATP6V1B1: P05.014<br />
ATP7A/B: P05.139<br />
ATP7B gene: P07.131<br />
ATP7B: P01.049, P01.073<br />
ATP-ase subunit 8: P01.245<br />
ATPase: P05.128<br />
Atrophy: P07.119<br />
ATRX gene: P01.246<br />
ATRX: P01.085<br />
ATR-X: P01.246<br />
ATTCT repeat: P05.174<br />
Attention: P06.235<br />
attitudes: EP09.1<br />
ATXN3: P05.187<br />
atypical CML: P04.082<br />
Atypical: P02.214<br />
auditory neuropathy: P07.013<br />
autism spectrum disorders: P01.319,<br />
P07.014<br />
autism: P01.080, P01.089, P01.247,<br />
P01.248, P02.067, P02.068, P02.092,<br />
P02.095, P02.110, P05.007, P06.033,<br />
P06.034, P06.035, P06.271<br />
autistic features: P02.161<br />
auto-brewery syndrome: P05.008<br />
autoimmune diseases: C08.1, P06.036<br />
Autoimmune regulator (AIRE): P05.009<br />
autoimmune thyroid disease: P06.072<br />
autoimmune: C08.5<br />
autoimmunity: P06.086<br />
automated nucleic acid purification: P08.44<br />
autonomy: P09.65, P09.66<br />
autophosphorylation: S13.3<br />
autosomal aneuplodies: P03.10<br />
Autosomal dominant Alport Syndrome:<br />
P01.249<br />
Autosomal Dominant Polycystic Kidney<br />
Disease: P05.217, P06.234<br />
Autosomal dominant: C06.5, P01.297,<br />
P06.037, P06.064<br />
autosomal recessive mental retardation:<br />
P06.025<br />
autosomal recessive: EP10.08, P01.161,<br />
P06.160<br />
autozygosity mapping: P01.096<br />
Axenfeld-Rieger: P01.250<br />
axillary osmidrosis: P06.038<br />
Aymaras: P07.139<br />
AZF deletions: P02.242<br />
AZF: P02.240<br />
AZFc locus: P02.233<br />
AZFC region: P09.63<br />
azoospermia: P02.221, P02.222, P02.240<br />
Azores: P06.044, P06.050, P07.127<br />
β2-adrenergic receptor (ADRB2)<br />
polymorphisms: P06.318