2009 Vienna - European Society of Human Genetics

Keyword Index
1
10q22 deletions: P03.081
10q24 duplication: P05.34
11p15 ICR 1 region: P02.108
12p12.3: P08.42
13/13 translocation: P03.001
13q partial monosomy: P03.114
14q12 deletion: P02.186
15-lipoxygenase-1: P06.001
15q11-q12 deletion: P03.175
15q13.3 microdeletion: C02.3
15q13.3: C02.2
16q22.1 microdeletion: P03.082
17q12: P03.100
17q21.31: P03.063
17q21: P03.064
18 q deletion syndrome: P03.115
1858C>T polymorphism: P08.54
18q deletion: C02.4, P03.116
1958: P04.10
19q13.11: C16.3
1p36: P03.165
1q interstitial deletion: P03.085
1q terminal deletion: P03.161
1q21.1: P03.065
1q42.2: P09.018
1q-syndrome: P03.002
1qter deletion: P03.159
2
2:2 segregation: P03.178
20 years: P01.05
21 Hydroxylase deficiency: P13.07
21-hydroxylase defficiency: P02.093
21-hydroxylase deficiency: P02.032
21-hydroxylase gene: P04.02
22q11.2 deletion syndrome: P03.176
22q13.3 microdeletion: C16.5
2p partial trisomy: P03.003
2q partial monosomy: P03.003
2q14: P03.080
2q31.1 duplication: P03.030
3
35delG mutation: P12.051
3-M syndrome: P02.001
3’UTR: P11.016
4
454 sequencing: P11.001
48,XXYY: P02.002
4a/4b polymorphism: P10.22
4q deletion syndrome: P03.166
4q25 microdeletion: P03.061
4q35: P16.32
5
5-Fluorouracil: P06.096
5-HT3: P09.007
5p deletion syndrome: P03.160
5p deletion: P05.01
5q-: P06.204
5q12 deletion: P03.117
5q14.3 microdeletion: C16.2
6
6p22p24 gain: P03.118
6q26: P03.164
7
7q11.23: P03.183, P11.124
7q22.1-22.3: P03.066
8
8.1 ancestral haplotype: P06.144
8q24: P06.002
9
9q34: P02.103
A
A-7265G polymorphism: P03.050
Aarskog-Scott syndrome: P11.056
ABCA4: P12.003
ABCB4 gene: P09.060, P12.004
ABCC6: P12.136
ABCC8: P11.024
ABCG2: P08.36
ABCR gene: P12.005
abdominal aortic aneurysm: P08.43
abdominal obesity: P13.01
abdominal wall defects: P02.003
Abnormal chromosomal segregation:
P06.003
abnormalities: P04.09
ABO: P12.023
accreditation: P15.10, P15.11
ACE I/D: P08.01
ACE: P05.30, P08.08, P10.01, P17.13
acetyl-CoA carboxylase: P11.002
aCGH: P03.066, P03.180, P05.32
achondrogenesis type II: P02.151
Acrocallosal syndrome: P02.004
acrofacial dysostosis: P02.005
acro-mandibulofacial dysostosis: P02.152
ACTA2: P12.109
ACTN3 gene: P01.01
Acute abdomen: P13.14
acute coronary syndrome: P17.32
acute leukemia: P06.169
Acute lung injury: P09.061
Acute lymphocytic leukaemia: P03.149
acute myeloid leukemia: P06.174,
P06.181, P06.182, P06.194
acute myelomonocytic leukemia: P06.195
acute toxic hepatitis: P09.001
ADAM12: P05.02
ADAMTS: P12.033
Addison’s disease (AAD): P09.104
additional chromosomal aberrations:
P07.08
adeno-associated virus: C12.3
adenomas and malignant polyps: P06.208
adenosylcobalamin: S11.2
ADH: P08.30
ADHD: P09.002
Adiponectin: P06.004
adiponectine: P13.01
Adiponutrin: P09.003
adiposity: P17.01
adult lymphoblastic leukemia: P06.177
aerobic capacity: P09.066
afamin: C07.3, P17.07
affect intensity: P09.114
Affected relative pairs: P08.02
affective disorder: P09.004
Affymetrix 250k SNP array: P05.03
age at diagnosis: P03.201
age of the mutation: P10.44
ageing: S14.3
age-related diseases: P01.18, S14.3
age-related macular degeneration:
P09.005
age-related pathologies: S14.2
aging and cancer phenotypes: S14.2
aging: P10.33, S14.1
Aglossi-adactyly syndrome: P02.006
AHI1 - CEP290: C03.1
Aicardi-Goutieres syndrome: C08.3
AIP: P06.083
AIRE: P12.006
AIS: P12.016
AKT1: P09.069
Alagille syndrome: P12.007, P12.008
albinisme: P02.115
albumin: P11.003
alcohol dehydrogenase: P09.006
alcohol dependence: P08.30
alcohol: P08.03
alcoholism: P09.006
ALDH3B1: P09.096
Aldolase B intronic enhancer: P14.10
Aldurazyme: P13.38
α-L-iduronidase: P02.077
Alfa-synuclein: P17.60
α-thalassemia: P02.180, P12.001
ALK gene: P06.183
alkaptonuria: P12.009