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 />
carnitine deficiency: P0823<br />
Carpenter syndrome: P0433, PL07<br />
carrier frequency: P0149, P1101<br />
Carrier population screening: P1330<br />
carrier screening: P1315<br />
carriers: P0090<br />
cartilage ESTs: P1231<br />
case-control: P1100<br />
case-control association study: C<strong>16</strong><br />
Case-Control Study: P1186<br />
Case-Parents Trios: P1038<br />
cat eye syndrome: P0297<br />
CATCH22: P0043<br />
Caudal duplication syndrome: P0044<br />
caveolin: P0921, P0922<br />
CBAVD: P0678<br />
cb-EGF like domains: P0788<br />
CC2D1A: P0907<br />
CCR: P1184<br />
CCR5: P1140<br />
CCR5del32: C18<br />
CD24: P0606<br />
CDG Ib: C60<br />
CDG syndrome: P0045<br />
CDH1: P0551<br />
Cdk2: P0841<br />
CDK5R1: P1232<br />
CDKL5 mutations: P0101<br />
celiac disease: P0679, P0923, P0924, P0925<br />
cell free fetal DNA: P0483, P0434, P0435<br />
cell-free fetal DNA quantification: P0436<br />
cell-free nucleic acids: P0437<br />
Cells to Ct: P1233<br />
Centa2: P0680<br />
Centres of Reference: P1325<br />
centromere instability: P0298<br />
centronuclear myopathy: C08<br />
CEP290: C02<br />
ceruloplasmin: P1234<br />
ceruloplasmin pseudogene expression: P1234<br />
cervical cancer: P0542, P0881<br />
CETP: P0102<br />
CFC: P0046<br />
CFC syndrome: P0047, P0048<br />
cff-DNA: P0438<br />
CFNS: P0049<br />
CFTR: P0075, P0076, P0443, P0678<br />
CFTR gene: P0077, P0696<br />
CFTR mutation screening: P1263<br />
CFTR mutations: P1144<br />
CGH: P0299, P0300, P0388, P0522<br />
CGH array: P0762<br />
CGHarray: P0341<br />
CGH-array agilent: P0005<br />
chagas disease: P1<strong>16</strong>0<br />
champions: P1206<br />
channelopathy: C04<br />
chaperonine: C03<br />
Charcot-Marie-Tooth: P0050, P0681, P0682, P0757,<br />
P0926, P0933<br />
Charcot-Marie-Tooth type 1 (CMT1): P0927<br />
CHARGE syndrome: P0051<br />
Chatham: P0743<br />
CHD7: P0051<br />
CHEK2: P0523, P0535<br />
chemical chaperone: P0635<br />
Chernobyl accident: P1152<br />
child: P0553, P0808<br />
Child Physical Abuse: P1367<br />
childhood ALL: P0301<br />
children: P0103, P0571, P0942<br />
chimeric receptor: P0620<br />
chimerism: P0315<br />
Cholangiocarcinoma: P0524<br />
Cholesterol: P12<strong>16</strong><br />
cholesterol biosynthesis: P0248<br />
chomosomal aberrations: P0301<br />
chorionic villus sampling: P0474<br />
choroid plexus cyst: P0439<br />
chromatin: C66, P1303<br />
Chromosomal Aberrations: P0289, P0302, P0328,<br />
P0336, P0389, P0440<br />
chromosomal abnormalities: P0291, P0321, P0363,<br />
P0441, P0452, P0527<br />
chromosomal aneuploidy: P0478, P0928<br />
chromosomal anomalies: P0318<br />
Chromosomal deletion: P0<strong>19</strong>6<br />
chromosomal imbalances: P0088<br />
chromosomal instability: P0333, P0575<br />
chromosomal mosaicism: P0303<br />
chromosomal radiosensitivity: P0304<br />
Chromosomal rearrangement: P0324<br />
chromosomal subtelomeric anomalies: P0173<br />
chromosomal, syndromic, nonsyndromic: P0211<br />
chromosome: P0305, P0346, P0354<br />
chromosome 1: P0382<br />
chromosome 1 deletion: P0052<br />
Chromosome 4: P0397<br />
Chromosome 5 anomalies: P0310<br />
chromosome 5p: P1128<br />
chromosome 7: P0848<br />
chromosome 10: P0350<br />
chromosome 10q: P0306<br />
chromosome 12: P0382<br />
Chromosome 14: P0263<br />
chromosome <strong>16</strong>: P1<strong>16</strong>7<br />
Chromosome <strong>16</strong> fragility: P0182<br />
chromosome 17: P0307, P1211<br />
chromosome 18: P0308<br />
Chromosome 21: C26, P0309, P1248<br />
chromosome aberration: P0366<br />
chromosome abnormalities: P0311, P0360, P0395<br />
chromosome conformation capture: P1235<br />
Chromosome deletion: P0023<br />
chromosome instability: P0344<br />
chromosome rearrangement: P0345<br />
chromosome rearrangements: P0424<br />
chromosome translocation: P0256<br />
chromosome X: P0683, P1251<br />
chromosome Xp: P0327<br />
Chromosome Xp deletion: P0312<br />
chromosome Y: P0313<br />
chromosomes 1 and 8: P0515<br />
Chromosomes aneuploidies: P0457<br />
chromosoms: P0314<br />
chromsome 10q23: P0053<br />
chronic heart failure: P1077<br />
Chronic Lymphocytic Leukaemia: P0525<br />
Chronic Myeloid Leukaemia: P0540<br />
Chronic myeloid leukemia: P0315, P03<strong>16</strong>, P0526,<br />
P0527, P0528<br />
Chronic myeloproliferative disorders: P0529<br />
chronic obstructive pulmonary disease: P0950<br />
chronic pancreatitis: P0684, P0685<br />
chronic viral hepatitis: P0558, P0929<br />
chylomicron retention disease: P0643<br />
ciliopathy: C01<br />
Cirrhosis: P0054<br />
cis-regulatory elements: P0883<br />
C-JUN: P0714<br />
Classic Rett: P0843<br />
CLCN1 mutations: P0097<br />
CLCNKB: P0665, P09<strong>16</strong><br />
cleft lip and/or palate: P0930<br />
cleft lip/palate: P0458, P1083<br />
cleft palate: P0055, P0182<br />
cleidocranial dysplasia: P0056<br />
clinical: P13<strong>16</strong><br />
Clinical and molecular study: P0202<br />
clinical genetics: P0057, P0152<br />
clinical inclusion criteria: P0094<br />
clinical manifestations: P1177<br />
CLL: P0530<br />
CLN7: C07<br />
Clouston syndrome: P0133<br />
CML: P0500, P0531, P0532, P0533, P0550<br />
CMT: P0686, P0687, P0931, P0932<br />
CMT1A: P0933<br />
CMTX: P0681<br />
c-myc: P0606, P1398<br />
CNCs: P1235<br />
CNGA3: P0632<br />
CNS disease: P1228<br />
CNTNAP2: P0238<br />
CNV: P0525, P0531, P1236<br />
cocaine addiction: P0960<br />
Cockayne syndrome: P0058, P0059, P0442<br />
coding region: P1<strong>19</strong>5<br />
coding transcripts: C24<br />
coeliac: P0934, P0935<br />
coeliac disease: S10<br />
Coenzyme Q10: C09<br />
coexistance: P0<strong>19</strong>5<br />
Coffin-Lowry syndrome: P0688<br />
COG defect: P0045<br />
COH1: P0060<br />
Cohen syndrome: P0060<br />
Cohesin Complex: P0065<br />
cohesion: C66<br />
COL2A1: P0083<br />
COL4A3/COL4A4: P0936<br />
COL5A1: P0937, P0938<br />
Cold induced Sweating: C06<br />
Collagen IV(A5, A4 and A3) genes: P0639<br />
collodion membrane: P0777<br />
colon and lung cancer: P0499<br />
colon cancer: P0534, P0545<br />
Colorectal cancer: C52, P0535, P0536, P0537, P1312<br />
common diesease: P1032<br />
communication: P1341<br />
Communication skills: P1333<br />
community consultation: P1366<br />
comparative genomic hybridization: P0613<br />
competences: P1317<br />
complex chromosomal rearrangement: P0317<br />
complex chromosome rearrangements: C77<br />
complex disease: P1034<br />
complex diseases: P0892<br />
complex I: P0590<br />
complex translocations: P0533<br />
complication: P0129<br />
computational genetics: P1237<br />
COMT: P0939<br />
COMT, IGF2: P0265<br />
Congenita: P13<strong>16</strong><br />
Congenital Adrenal Hyperplasia: P0689<br />
congenital anomalies: P0157, P0257<br />
congenital bilateral absence of the vas deferens:<br />
P0678<br />
Congenital cataract: P0940<br />
congenital defect: P0286<br />
congenital heart defects: P0318<br />
congenital heart disease: P0061, P0690<br />
congenital malformations: P0020, P0157, P0326,<br />
P1173<br />
Congenital Motor Nystagmus (CMN): P0941<br />
Congenital Neutropenia: P0062<br />
conjugated hyperbilirubinemia: P0710<br />
connective tissue displasia: P0942<br />
connexin: P0744, P0825<br />
Connexin 26: P0063, P0085, P0086, P0754<br />
conotruncal heart malformation: P0365
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