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 />
1, 25-dihydroxyvitamin D: P1121<br />
1. trimester screening: C29<br />
1298: P0810<br />
13q: P0522<br />
13q- syndrome: P0280<br />
15q11-q13 deletion: P0222<br />
15q26.1: P0038<br />
17p11.2 deletion: P1391, P1392<br />
17q21.31 microduplication: P0001<br />
18 trisomy: P0002<br />
18q paracentric inversion: P0281<br />
1p/<strong>19</strong>q: P0490<br />
1p36 deletion: P0189<br />
1p36 Monosomy: P0224<br />
1q deletion: P0305<br />
21 hydroxylase deficiency: P0003<br />
21-deficiency: P0689<br />
22q(ter): P0282<br />
22q11.2 deletion: P0<strong>19</strong>7<br />
22q11.2 microdeletion: P0283<br />
22q11.23 microdeletion: P0284<br />
22q13.3 deletion syndrome: P0285<br />
244k Agilent oligoarray: P0001<br />
2-locus TDT: P0892<br />
3 M syndrome: P0693<br />
308G/A polymorphism: P1112<br />
35delG: P1171<br />
3D modelling: P1271<br />
3-M syndrome: P0893<br />
3p deletion: P0427<br />
3q rearrangements: P0546<br />
3q13.13: P0413<br />
3q29 microdeletion: P0004<br />
3’UTR: P1232<br />
47,XYY: P0115<br />
48,XXX,+21: P0286<br />
4P-syndrome: P0423<br />
4q-deletion syndrome: P0287<br />
50% at-risk: P1386<br />
5q: P1073<br />
6p deletion: P0005<br />
-765G>C COX-2: P0629<br />
8p23.1: P0065<br />
9p deletion: P0288<br />
a CGH: P0412<br />
A8296G mutation,: P0770<br />
Abbott: P1252<br />
ABCA1: P0660, P1106<br />
ABCA4: P0006<br />
ABCB4: P0630, P0631<br />
ABL1 amplification: P0491<br />
abnormal USG: P0455<br />
ABO: P1015<br />
abortion: P0392<br />
absent clavicles: P0071<br />
Absent ocular phenotype: P0227<br />
accreditation: P1305, P1379, P1380, P1396<br />
ACE: P0894, P0920, P0942<br />
aCGH: P0492, P1090<br />
Achilles tendon injury: P0937<br />
Achondrogenesis: P0007<br />
achondroplasia: P0241<br />
achromatopsia: P0632<br />
acrocephalopolysyndactily: P0433<br />
Acro-oto-ocular syndrome: P0008<br />
active rig X: P0401<br />
ACTN3: P1126<br />
acute coronary disease: P0464<br />
Acute intermittent porphyria: P0633<br />
acute lymphoblastic leukemia: P0493<br />
Acute Myeloid Leukemia: P0289<br />
AD SCAs: P1127<br />
ADAM 33: P0674<br />
Adams Oliver syndrome: P0009<br />
adenocarcinoma: P0497<br />
ADHD: P1080, P1128<br />
ADHD, DAT1,VNTR,polymorphism,association,:<br />
P0895<br />
AD-HSP: P0896<br />
adjacent-2 segregation: P04<strong>16</strong><br />
admixture: P1129<br />
Admixture dynamics: P1138<br />
adolescents: P1<strong>16</strong>4<br />
ADRABbeta2: P1148<br />
adrenal hyperplasia: P0218<br />
Adrenal hypoplasia congenita: P0010<br />
Adrenoleukodystrophy (X-ALD): P0634<br />
adult: P1306<br />
Adults: P0276, P1177<br />
Adult-type hypolactasia: P1131<br />
Advanced grandmaternal age: P0091<br />
Advanced maternal age: P0448, P1337<br />
AECA: P0897<br />
aerobic metabolism: P1202<br />
aerobic performance: P0898<br />
Affymetrix: P0903<br />
afibrinogenemia: P0635, P1397<br />
African patients: P0011, P0698<br />
African-derived populations: P0996<br />
afro-derived populations: P1138<br />
Age of onset: C53<br />
ageing: P1003<br />
age-related macular degeneration: P0138<br />
aggression: P0894<br />
aggressiveness: P0978<br />
aging: P0899<br />
aging genetic: P1130<br />
agression: P0939<br />
AGTR1: C72<br />
Aicardi syndrome: P0290<br />
AIED: P0636<br />
AK1: P0637<br />
alcoholism: P0638, P0900, P0959<br />
Alexander disease: P0901<br />
Alexithymia: P0900<br />
algorithm: P1257<br />
alkaline phosphatase: P0143<br />
ALL: P0491, P0493<br />
Allele drop out: P0467<br />
Allele high-specific amplification: P1131<br />
Alleles Frequencies: P1132<br />
allele-specific: C57<br />
allelic heterogeneity: P0630<br />
allelic variants: P1<strong>16</strong>8<br />
allergic rhinitis: P0902<br />
Alopecia: P0140<br />
ALOX5: P0910<br />
ALOX5AP: P0986<br />
Alpers: C11, P1203<br />
alpha synuclein: P0638<br />
Alpha thalassemia: P0012, P0429, P1125<br />
alpha-1-antitrypsin deficiency: P0054<br />
alpha-actinin-3: P1126<br />
Alpha-mannosidosis: P0013<br />
alpha-synuclein mRNA level: P0834<br />
Alport syndrome: P0639<br />
ALS: P0014<br />
alternative splicing: P0733, P1413<br />
Alu: C69<br />
Alu insertion polymorphisms: C68<br />
Alu insertions: P1207<br />
Alzheimer disease: P0640, P1307<br />
Alzheimer’s disease: P1225<br />
Alzheimer’s Disease: P0903<br />
Amazon: P1156<br />
Amelogenin: P1<strong>19</strong>2<br />
amenorrhoea: P0291<br />
Amerindians: P1133<br />
aminoglycoside-induced deafness: P0809<br />
AML: P0494<br />
AML-M7: P0495<br />
Amniocentesis: P0480<br />
amniotic fluid: P0430<br />
amphiphysin: C08<br />
amplicon quantification: P1239<br />
amplification: C32<br />
amyloid-beta-protein: P1225<br />
amyloidoses: P0641<br />
amyotrophic lateral sclerosis: P0015<br />
anal anomalies: P0020<br />
ancestry informative marker: P1134<br />
Ancestry Informative Markers: P1133<br />
ancient: P1<strong>19</strong>3<br />
Andermann syndrome: P0642<br />
Anderson ‘s disease: P0643<br />
Androgen insensitivity syndrome: P00<strong>16</strong>, P0017,<br />
P0645, P0651<br />
Androgen receptor: P00<strong>16</strong>, P0017, P0644<br />
androgen receptor gene: P0645, P0904<br />
anemia, sickle cell: P1356<br />
aneuploid screening: P0472<br />
aneuploidies: P0460, S28<br />
aneuploidy: C26, C30, C76, P0303, P0330, P0370,<br />
P0403, P0475<br />
aneuploidy screening: P0464<br />
Angelman and Prader Willi syndromes: P0262<br />
Angelman Syndrome: P0646, P0728, P1280<br />
Angiotensin Converting Enzyme: P0570<br />
angulated femur: P0243<br />
animal model: P0858<br />
aniridia: P0018<br />
annexin V: P1064<br />
annotation: C24, C70<br />
Anonychia: P0647<br />
anophthalmia: P0<strong>16</strong>3<br />
anophthalmia/microphthalmia: P00<strong>19</strong><br />
anorectal atresia: P0020<br />
antenatal screening: P1390<br />
anticipation: P0236<br />
anti-histamine: P1268<br />
antioxidant genes: P0899<br />
antiphospholipid antibodies: P0796<br />
Antley-Bixler: P0095<br />
aortic dilatation: P0<strong>16</strong>2<br />
APC: P0496, P0547, P0549, P0618, P0648<br />
APC and VDR gene: P0537<br />
APC gene: P0105, P0497, P0554<br />
APEX: C28<br />
APEX technology: P1<strong>19</strong>6<br />
aplasia cutis congenita: P0009<br />
Aplastic anemia: P0021<br />
ApoA5: P0649, P0793, P0905<br />
ApoA5 gene: P0650<br />
APOB: P0729<br />
ApoE: P0920<br />
apolipoprotein A5: P0906<br />
apoptosis: P0383, P0498, P0850<br />
APP: P1225<br />
apparently balanced translocation: P0317<br />
approximation: P1244<br />
Aqp2 gene: P1048<br />
AR gene: P0651<br />
ARCMT: P0926
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