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 />
Consanguineous marriage: P0174, P0972, P1355<br />
consanguinity: P0064, P0690, P0943, P1382<br />
conserved non-coding elements: P0736<br />
constitutional markers: P1313<br />
Consultands requesting presymtomatic testing: P1318<br />
Control Population: P1141<br />
controlled ovarian hyperstimulation: P0969<br />
convulsions: P0655<br />
COPD: P0944, P1071<br />
copy number: P0135<br />
copy number change: P0371<br />
copy number variation: C22, C32, P0685, P1090,<br />
P1238, P1239, P1240, P1241, S26<br />
COPYPlex: P1240<br />
CoQ10: C10<br />
corneal opacity: P0258<br />
Cornelia de Lange syndrome: P0065, P0066, P0067,<br />
P0068<br />
coronary artery disease: P0986, P1323<br />
Coronary Heart Disease: P0945, P13<strong>19</strong><br />
cortical dysgenesis: P0069<br />
cortical malformations: C35<br />
Costello syndrome: P0070, P0137<br />
coumarins: P0498<br />
counseling: P1320<br />
Counselling: C79, P1314, P1357<br />
COX: P0155<br />
COX-2: P1142<br />
COX-2 gene: P0595<br />
COX-2 gene polymorphism: P0946<br />
COX-2 polymorphism: P0629<br />
CpG Islands: C21<br />
CPVT: P0947<br />
crane-heise syndrome: P0071<br />
cranial: P0171<br />
cranioectodermal syndrome: P0072<br />
CRB1: P0006<br />
Cri du Chat: P0691<br />
Crisponi syndrome: C05, C06<br />
CRLF1: C05, C06<br />
Croatian island isolates: C18<br />
Croatian population: P1150<br />
Crohn’s disease: P0692, P0892, P0948, P0949<br />
Cromosome: P0414<br />
cross-cultural communication: P1321<br />
CRP: P0950<br />
cRSS: P1242<br />
cryptic deletions: C77<br />
cryptic imbalances: P0294<br />
cryptorchidism: P0904<br />
cryptorchydisme: P0355<br />
CSA: P0442<br />
CSF1PO: P1221<br />
CTG expansion: P1045<br />
CUL7: P0693, P0893<br />
cultural competent care: P1332<br />
Currarino syndrome: P0073<br />
cutis aplasia: P0184<br />
cutis laxa: P0074<br />
cutoff point: P0594<br />
CVD: P1143<br />
CVS: P0475<br />
Cx26: P1147<br />
Cx32: P0686<br />
CYP11A1: P0538<br />
Cyp17: P0539<br />
CYP1B1: P0125<br />
CYP21: P0694<br />
CYP21A1P/CYP21A2: P0695<br />
CYP21A2: P0003, P0689, P0695<br />
CYP2C9: P0267, P1245<br />
CYP2C9*2: P1122<br />
CYP2D6: P1245<br />
CYP2E1 gene: P1224<br />
Cyprus: P1321<br />
cystathionine β-synthase: P0763<br />
cystic fibrosis: C58, P0075, P0076, P0077, P0078,<br />
P0079, P0080, P0081, P0443, P0444, P0696, P0697,<br />
P0698, P0699, P0951, P0952, P0953, P1097, P1144,<br />
P1145, P1315, P1322<br />
cystic hygroma: P0489<br />
cysts of the corpus callosum: P0082<br />
cytochromes P 450: P1124<br />
Cytogenetic: P03<strong>19</strong>, P0357, P0363, P0395, P0406,<br />
P0494, P0555<br />
cytogenetic abnormalities: P0360<br />
cytogenetic analysis: P0375<br />
cytogenetic finding: P0582<br />
cytogenetic studies: P0394<br />
cytogenetic testing: P0428a<br />
Cytogenetics: P0332, P0374, P0405, P0439, P0493,<br />
P0529, P0572<br />
cytokine: P0954<br />
cytokines: P0944, P1055<br />
Czech dysplasia: P0083<br />
D3S1358, D5S818 and D13S317 loci: P1146<br />
D4Z4: P0726<br />
Dactylaplasia: P0700<br />
DAP Kinase Gene (DAPK1): P0540<br />
Darier disease: P0701<br />
database: C24, P1243, P1250<br />
Datation: P1157<br />
DAX1 (NR0B1) gene: P0010<br />
DAZ: P0913, P0914<br />
DAZ genes: P0702<br />
DBC2: P0541<br />
DCM: P0084<br />
de novo balanced translocation: P0320<br />
de Vries clinical score: P0321<br />
deafness: P0063, P0085, P0703, P0955, P1147,<br />
P1<strong>16</strong>8<br />
Deafness;: P0086<br />
decision: P1328<br />
decision making: P0476, P1375<br />
decision model: P1350<br />
defects: C49<br />
deficiency: P0170, P0171<br />
definitions: P1345<br />
Déjérine-Sottas syndrome: P0050<br />
del 5p: P0418<br />
del(18q): P0347<br />
del(4)(q33): P0087<br />
deletion: P0245, P0322, P0865, P1082<br />
deletion 9p syndrome: P0323<br />
deletion of 7q3: P0372<br />
Deletion/Duplication: P1278<br />
Deletions: P0084, P0588, P0707, P0745, P0762<br />
deletions/duplications: C35, P0800<br />
Delleman syndrome: P0178<br />
ΔF508 mutation: P1145<br />
dental abnormalities: P0036<br />
dental symptoms: P0143<br />
depression: P0956<br />
Dept.Med.<strong>Genetics</strong>: P1387<br />
dermal fibroblasts: P0748<br />
dermatoglyphics: P1244<br />
Desmoglein: P0654<br />
desmoplastic small round cell tumor: P0584<br />
Developmental delay/mental retardation: P0088<br />
developping countries: P1306<br />
DFNB: P0132<br />
DFNB59: P0089<br />
DFNB7(11): P0131<br />
DGUOK: C11<br />
DHCR7: P0247<br />
DHCR7 gene: P0248<br />
DHPLC: P0094, P1051, P1060<br />
diabetes: C45, P0957<br />
diabetes mellitus: P1118<br />
diabetes type 1: P0882<br />
diabetes type 2: P1148, P1205, P1323<br />
diabetic nephropathy: P0958<br />
Diagnosis: P0502, P1280<br />
diagnostic laboratory: P1380<br />
diagnostic marker: P0494<br />
Diagnostic troublesome results: P0479<br />
diagnostic validation: P0453<br />
Diagnostics: P0314<br />
Diamond Blackfan Anemia: P0704<br />
DIAPH2: P1075<br />
dicentrics: P1149<br />
differentiation: P1249<br />
digenic/triallelic inheritance: P0842<br />
DiGeorge Sydrome: P0283<br />
Dilated Cardiomyopathy: P0705<br />
disability: P0064<br />
DISC1: C14, P1089<br />
disease genes: C48<br />
disease predisposition: P1346<br />
disialoganglioside 3 synthase: P0815<br />
disorders of speech areas: P1296<br />
distal limb anomalies: P0009<br />
Distance education: C84<br />
DLBCL: P0358<br />
D-loop: P0<strong>19</strong>3<br />
DMD: P0706, P1402<br />
DMD gene: P1278<br />
DMD/BMD: P0090, P0707, P0800, P0801, P1028<br />
DME: P1245<br />
DMRT1 gene: P0751<br />
DNA Banks: P1265<br />
DNA copy number changes: P0061<br />
DNA damage response: P0575<br />
DNA diagnostics: P0<strong>19</strong>0, P0453<br />
DNA fragmentation: P0324<br />
DNA isolation: P1246<br />
DNA methylation: C21, P0325, P0343, P0460, P0540,<br />
P0559, P1247<br />
DNA methylation analysis: P0542<br />
DNA polymorphism: P1<strong>16</strong>9, P1208<br />
DNA repair gene: P0503, P0504<br />
DNA repair mechanism: P0058<br />
DNA repeats: P0641<br />
DNA sequence information: S03<br />
DNA Sequencing: P0012, P0255, P0485<br />
DNA typing: P1150<br />
DNA-diagnosis: P0269<br />
DNA-fragmentation: P0708<br />
DNA-repair genes: P0536<br />
dog: P1054<br />
dominant mutation: P0063<br />
dominant XLRP: P0889<br />
Dopamine receptor: P0974<br />
dopamine transporter gene: P0959<br />
double minute: P0326<br />
double trisomy: P0286<br />
Down sy: P0445<br />
Down’s syndrome: C26, C29, P0091, P0297, P0402,<br />
P0446, P0447, P0448, P0449, P0450, P0459, P0476,<br />
P0481, P0709, P0810, P1151, P1152, P1248, P1324,<br />
P1368<br />
Down Syndrome and ROS: P1<strong>19</strong>8<br />
down syndrome critical region: P0420<br />
DRD2: P0960<br />
drug metabolism genes: P1236<br />
DTNBP1: C14<br />
Duane’s: P0271<br />
Dubin-Johnson syndrome: P0710<br />
Duchenne muscular dystrophy: P0092, P0093,<br />
P0711, P1336, P1400<br />
Duchenne/Becker muscular dystrophy: P0094
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