2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics
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Keyword Index<br />
10p11.2-p12.1 deletion: P02.088<br />
10p15 microdeletion: P02.068<br />
11q Deletion: P02.012<br />
12StRNA: P05.067<br />
14bp deletion: P02.104<br />
14q11.2 syndrome: P08.01<br />
14q31 deletion: P02.089<br />
15(q26.2-qter) deletion: P02.172<br />
15q11q12 duplication: P02.153<br />
16p11.2-12.2 microdeletion: P02.041<br />
17q21.3: P02.039<br />
17q21.31 microdeletion: P02.069<br />
18p deletion: P03.63<br />
18p-: P02.070, P02.071<br />
18q deletion syndrome: P02.072<br />
19bp deletion: P06.206<br />
1p36 microdeletion syndrome: P02.003<br />
1q44 deletion: P02.090<br />
1qter deletion syndrome: C01.1<br />
21-hydroxylase deficiency: P05.025<br />
22q11.2 deletion syndrome: P02.094<br />
22q11.2 deletion: P01.288, P02.073<br />
22q11.2 duplication: P02.073<br />
22q11.2 microdeletion syndrome: P02.063<br />
22q11: P02.067, P06.063<br />
22q13 deletion syndrome: P02.050<br />
22q13.3 deletion syndrome: P02.074<br />
2p: P02.075<br />
2q terminal deletion: P02.005<br />
2q23.1 region: P02.164<br />
2q32 duplication: P02.040<br />
2q37.3 monosomy: P02.003<br />
3`UTR: P07.102<br />
35delG: P05.068, P06.080<br />
3C: P08.02<br />
3D imaging: P02.043<br />
3’-UTR VNTR, 1342 A/G polymorphism:<br />
P07.044<br />
3’-UTR: P04.170<br />
3’UTR: P05.021, P08.13<br />
454: P08.35<br />
46,XX,r(18)(q21.2qter): P02.193<br />
46,XY,add(8)(q24.3): P01.317<br />
47,XYY/48,XXYY syndrome: P02.076<br />
48, XXYY: P02.077<br />
48,XXYY: P02.078<br />
4C technology: S07.2<br />
4p deletion: P02.047<br />
4p-: P02.043, P02.044<br />
4q deletion: P02.086<br />
4q: P02.132<br />
5,10-methylentetrahydr<strong>of</strong>olate reductase<br />
gene: P06.026<br />
5-aza-2-deoxycytidine: P05.098<br />
5-Azacytadine: P10.04<br />
5-HTTLPR: EPL2.2<br />
5p centric fission: P02.213<br />
5p duplication: P02.091<br />
5-Probe FISH: EP10.01<br />
5q11.2 deletion: P02.092<br />
5q31 deletion: P04.113<br />
657del5: P04.112<br />
6p interstitial deletion: P02.136<br />
6qter deletion: P02.145<br />
71621: P01.027<br />
7q36 microduplication: P01.167<br />
8q24: P04.181<br />
9q34: P02.006<br />
α deletions: P01.014<br />
α-thalassemia: P01.006<br />
Aβ: P05.003<br />
A new French Health Pr<strong>of</strong>ession: P09.10<br />
a rare translocation: P04.104<br />
A1555G Mitochondrial mutation: P05.069<br />
A1555G: P05.127<br />
A2756G poymorphism: P04.164<br />
A467T mutation: P01.345<br />
A82E: P05.154<br />
AANAT: P06.001<br />
AAT Mutations: P07.006<br />
abacavir: P04.188<br />
ABCA1: P06.030<br />
ABCA4: P05.190<br />
ABCB4 gene: P05.001<br />
ABCC6: C06.5<br />
ABCC8: P05.026<br />
ABCD2: P01.075<br />
ABCG8: P06.002<br />
Abdominal wall defects: P01.289<br />
aberrant karyotype: P02.138<br />
abnormal karyotype: P02.007, P02.093<br />
abnormality: EP10.01<br />
ABO blood group: P04.119<br />
ABO blood type: P07.001<br />
abortion: EP01.01<br />
access: EP05.1<br />
accociation: P06.215<br />
accreditation: P09.57, P09.71<br />
ACE gene polymorphism: P06.097<br />
ACE I/D: P06.065<br />
ACE polymorphism: P07.002<br />
ACE: P06.096, P07.015<br />
acetyl-CoA carboxylase: P06.003<br />
a-CGH: P01.118<br />
aCGH: P01.314, P02.060, P03.01<br />
AChR: PL2.6<br />
acidic induced denaturation: P08.22<br />
acro-osteolysis: P01.134, P05.165<br />
ACSL4: P01.087<br />
activities supporting: P09.59<br />
ACTN3, ACE, AMPD1: P06.004<br />
ACTN3: P07.003, P07.046<br />
acute coronary artery disease: P06.319<br />
acute coronary syndrome: P06.286<br />
acute intermittent porphyria: P05.161<br />
acute lymphoblastic leukemia: P04.070<br />
acute myeloid leukemia: P04.071, P04.079<br />
acute myocardial infarction: P05.193<br />
Acute promyelocytic leukemia: P04.072<br />
ACVR1: P05.084<br />
ACVRL1: P05.086<br />
AD: P10.01<br />
ADA: P05.179<br />
Adams-Oliver: P01.239<br />
Adams-Olivier syndrome: P01.240<br />
adaptation to environment: PL2.5<br />
adaptive behavior: P02.070<br />
Addison’s disease: P06.247<br />
ADHD: P06.005, P06.006<br />
adipogenesis: P05.016<br />
adiponectin: P06.007<br />
ADNFLE: P01.257<br />
Adrenoleukodystrophy: EPL6.1, P01.241<br />
adult stature: P06.008<br />
ADULT syndrome: P01.138<br />
advanced maternal age: EP14.01<br />
adverse drug reactions: PL1.1<br />
advocacy groups: P09.03<br />
AFAP1: P08.03<br />
Affymetrix 500K: C08.3<br />
Afibrinogenemia: P06.009<br />
Africa: P07.134<br />
age <strong>of</strong> the mutation: P07.088<br />
age: P04.119<br />
age-at-onset: P07.009<br />
ageing: P07.004<br />
aging genes: P07.070<br />
AgNOR: P02.209<br />
AGxT: P01.348<br />
AIRE: P05.002<br />
aldosterone synthase: P06.134<br />
Alfa thalassemias: P01.021<br />
Align-GVGD: P04.121<br />
ALL: P04.073<br />
Allan-Herndon-Dudley: C07.6<br />
allele frequency: P01.040, P07.005<br />
Alleles Frequencies: P07.074<br />
allelic association: P06.010<br />
allelic expression: P04.064<br />
allelic heterogeneity: P01.041<br />
allelic recombination: S08.2<br />
allelic variant: P08.69<br />
allergic rhinitis: P06.011<br />
Alopecia areata: P05.200<br />
alopecia: C01.6, P06.012, PL2.3<br />
Alox12B: P05.143<br />
alpha 1 antitrypsin: P07.006<br />
alpha fetoprotein: P03.29<br />
Alpha Synuclein: P06.013<br />
Alpha-1 antitrypsin: P06.014<br />
alpha-1-antitrypsun: P07.007<br />
alpha-galactosidase: P01.057, P07.008<br />
Alpha-methylacyl-CoA racemase: P04.182<br />
alpha-synuclein: P06.224<br />
alpha-thalassemia gene defects: P01.016<br />
alphavirus: P08.14<br />
ALSG: P01.311<br />
Alu: P01.152, P05.182<br />
Alzheimer disease: P02.177, P05.004<br />
Alzheimer: P05.003, P06.015, P06.016<br />
Alzheimer´s disease: P01.242<br />
Alzheimer’s disease: P02.106<br />
alzheimer’s disease: P06.017
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