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 />
melting curve analysis: P1298<br />
MEN syndrome: P0791<br />
mendelian diseases: P1155<br />
mental: P0170, P0171<br />
Mental deficiency: P0141<br />
mental illness: C82<br />
mental retardation: C22, C38, C41, C42, C75, P0013,<br />
P0022, P0115, P0124, P0<strong>16</strong>9, P0172, P0173, P0174,<br />
P0253, P0293, P0310, P0320, P0321, P0338, P0342,<br />
P0363, P0655, P0683, P0792, P0802, P1018, P1020,<br />
P1021, P1238, PL05<br />
mentally retarded: P0364<br />
metabolic genes: P1130<br />
metabolic syndrome: P0175, P0650, P0793, P1022,<br />
P1023<br />
metabolism: P0767<br />
metachromatic leukodystrophy: P0176<br />
metaphase chromosomes: P0325, P0343<br />
methotrexat: P1<strong>19</strong>4<br />
methylation: P0322, P0569, P0601, P0625, P1182,<br />
P1272<br />
Methylenetetrahydrofolate reductase: P0794, P0956<br />
Methylmalonic Acidemia: P0795<br />
methylmalonyl-CoA mutase: P0795<br />
mexican: P0697<br />
M-FISH: P0358, P0555<br />
MFS1: P0177<br />
Michels syndrome: P0212<br />
microarray: C23, P0299, P0381, P0430, P0621,<br />
P0785, P1187, P1238, P1273, P1274<br />
microarray CGH: P0371, P0525<br />
microarray DNA chip: P1027<br />
microarray-CGH: P0178<br />
microarrays: C21, P0388, P0552, P0977<br />
microcephaly: P0179, P0282, P0399<br />
microcephaly syndrome: P1024<br />
Microcephaly, primary: P0180<br />
Microcytic anemia: P1025<br />
microdeletion: C75<br />
microdeletion 22q11: P0365<br />
microdeletions: P0784<br />
microdissection: P0366<br />
microduplication 22q11.2: P0181<br />
micronuclei: P0334, P0383<br />
microphthalmia: P0830<br />
microRNA: C72, P1261<br />
MicroRNAs: C20, P0576<br />
microsatellite markers: P0588, P0941<br />
Microspherophakia: P1026<br />
microstomia: P0055, P0182<br />
mieller dieker syndrome: P0367<br />
Miglustat: P1408<br />
Migraine: P1188<br />
migration: P1<strong>19</strong>7<br />
minigene: P08<strong>19</strong><br />
minor anomalies: P0183<br />
minors: C80<br />
miRNA: P1275<br />
miRNAs: P0510<br />
mirror symmetry motifs: P0641<br />
mirror-image polydactyly: P0184<br />
miscarriage: P0349, P0454, P0796<br />
mismatch repair: P1276<br />
missense: P0818<br />
missense mutations: P0577, P0684<br />
missing data: P1037<br />
missing teeth: P0185<br />
mitochondrai: P1189<br />
Mitochondria: C09, C10, C12, P0456, P0634, P0682,<br />
P0740, P0826<br />
Mitochondrial ATPase 6,8 genes mutations: P0765<br />
mitochondrial diabetes: P0186<br />
Mitochondrial disease: P0798, P0861<br />
Mitochondrial disorders: P0856, P1411<br />
Mitochondrial DNA: P0770, P0797, P0862, P1027,<br />
P1063, P1<strong>19</strong>0, P1<strong>19</strong>1, P1215, P1277<br />
Mitochondrial DNA Deletion: P0659<br />
mitochondrial DNA mutations: P0578<br />
mitochondrial fatty acid beta-oxidation: S42<br />
mitochondrial mutations: P0798<br />
mitochondrial network: P0827<br />
Mitochondrial tRNA genes mutations: P0765<br />
mitochondrial tRNAGlu gene: P0186<br />
mitochondrial tRNALeu(UUR) gene: P0186, P0798<br />
mitochondrila DNA: P0711<br />
mitochondrion: P1234<br />
Mitofusin: P0682<br />
mitotracker: P0827<br />
mitral valve prolapsus: P01<strong>16</strong><br />
mitral valve stenosis: P0004<br />
Miyoshi: P0713<br />
MJD locus: P1212<br />
MKS1: P0799<br />
MKS1, MKS3: P0<strong>16</strong>4<br />
MLH1: P0368, P0760<br />
MLL fusion gene: P0495<br />
MLPA: P00<strong>19</strong>, P0078, P0187, P0369, P0457, P0706,<br />
P0707, P0771, P0800, P0801, P0802, P0803, P0865,<br />
P1028, P1051, P1278, P1279, P1363<br />
MMP9: P0658<br />
MMPs: P0781<br />
MMR genes: P0564<br />
modifier gene: P0951, P0952<br />
modifier genes: P0697, P0953, P1038<br />
MODY: P0126, P1029<br />
MODY 5: P0188<br />
molecular: P0313<br />
Molecular analysis: P1045<br />
Molecular biology techniques: P1352<br />
molecular cytogenetics: P0370, P0371, P0386<br />
Molecular Diagnosis: P0235<br />
Molecular diagnostics: P1352<br />
molecular genetic testing: P0627<br />
Molecular genetics: P0717, P0804, P1008, P1297<br />
Monosomy: P0854<br />
monosomy 1p36: P0189<br />
monosomy 21: P0309, P0367<br />
monosomy 3: P0625<br />
monosomy 7q3: P0372<br />
monosomy 8: P0458<br />
monozygotic twins: P0120, P0<strong>19</strong>0<br />
Moroccan population: P1144<br />
morphological phenotype: P0033<br />
Morquio B: P0747<br />
mosaic: P0947<br />
Mosaic trisomy 8: P0458<br />
Mosaicisim: P1030<br />
mosaicism: P0261, P0329, P0385, P0481, P0985<br />
motor distal neuronopathy: P1031<br />
motor-mental retardation: P0144<br />
mouse knock out: P0805<br />
mouse model: C61, P0691, P0750<br />
mps 1h: P0<strong>19</strong>1<br />
MPS II: P1409<br />
MRCA: P1157<br />
mRNA expression profiling: P0888<br />
mRNA overexpression: P0839<br />
MRP1: P0579<br />
MRP2 gene: P0710<br />
MSD: P0806<br />
MSH2: C50, P0580, P1276<br />
MSH2 deletions: P0561<br />
MS-MLPA: P1280<br />
MSP(methylation spesific PCR): P0497<br />
mtATP6 gene: P0<strong>19</strong>2<br />
mtDNA: P0084, P0130, P0<strong>19</strong>3, P0590, P0807,<br />
P0808, P1032, P1<strong>19</strong>2, P1<strong>19</strong>3, P1<strong>19</strong>5<br />
mtDNA depletion: P1114<br />
mtDNA depletion syndrome: P1033<br />
mtDNA mutations: P0809<br />
MTHFR: P0042, P0459, P0709, P0810, P0811,<br />
P0928, P1057<br />
MTHFR polymorphisms: P1<strong>19</strong>4<br />
MTRR gene: P0812<br />
mucoepidermoid carcinoma: P0614<br />
Mucolipidosis type II: P0813<br />
Mucopolysaccharidoses: P0814<br />
Mucopolysaccharidosis type 1: P0<strong>19</strong>4<br />
Mucopolysaccharidosis type 6: P1401<br />
Mucopolysaccharidosis type II: P1409<br />
multicolor banding: P0421<br />
Multidrug Resistance: P0579<br />
Multi-FISH: P0300<br />
multiflagella spermatozoa: P1001<br />
multigenic: P0517<br />
multiple congenital anomalies: P0256<br />
Multiple displacement amplification: P0373<br />
Multiple Displacement Modification (MDA): P0473<br />
multiple exostoses: P0<strong>19</strong>5<br />
Multiple Imputation: P1037<br />
multiple sclerosis: P0815, P1034, P1035, P1036,<br />
P1037, P1038, P1039, P1040, P1041<br />
Multiplex Gap PCR: P0012<br />
multiplex PCR: P0092, P0093, P1084, P1239<br />
Multiplexed ligation/PCR: P1240<br />
multipoint: P1201<br />
Mulvihill-Smith: P0<strong>19</strong>6<br />
MURCS association: P0<strong>19</strong>7<br />
muscle fiber: P1042<br />
muscular dystrophy: C23<br />
mut: P0795<br />
Mutation: P0079, P0080, P0081, P0122, P0142,<br />
P0<strong>19</strong>2, P0200, P0207, P0218, P0541, P0583, P0622,<br />
P0692, P0701, P0721, P0732, P0808, P0875, P0967,<br />
P1061, P1281, PL06<br />
mutation analysis: P0070, P0624, P0869, P1062<br />
mutation carrier: P01<strong>19</strong><br />
mutation detection: P0145, P0639, P0820<br />
Mutation frequency: P1258<br />
mutation rate: P1<strong>19</strong>5<br />
mutation scanning: P1262<br />
mutation screening: P0<strong>19</strong>8, P0262, P0279<br />
mutation study: P0940<br />
mutational analysis: P0824<br />
mutations: P0105, P0130, P0467, P0581, P0696,<br />
P0772, P0831, P1002, P1223, P1295<br />
MutS homolog: P0671<br />
MUTYH: C51<br />
MUTYH-associated polyposis; MAP: P0581<br />
myelin protein zero: P0050<br />
myelodysplastic syndrome: P0374, P0582<br />
myeloid leukemia: P0335<br />
Myeloproliferative disorders: P0583<br />
MYH: P0496, P0549<br />
myocardial infarction: P1043, P1069, P1<strong>19</strong>6<br />
myocilin: P1044<br />
Myoclonic Dystonia: P0242<br />
Myoclonic Epilepsy: C40<br />
myopia: P1044<br />
Myotonic Dystrophy: P08<strong>16</strong>, P1045, P1<strong>19</strong>7, P1364<br />
myotonic dystrophy type 1: P0469<br />
myotonic dystrophy type 2: P1046<br />
Myotonica: P13<strong>16</strong><br />
NADPH oxidase: P0661<br />
nail patella syndrome: P0<strong>19</strong>9<br />
NAIP: P0251<br />
NANOG: P0584<br />
NAT2: P1047<br />
natural selection: P1179<br />
Natural Variation in Cellular Phenotype ROS: P1<strong>19</strong>8<br />
NBS1: P0203, P0585, P0586
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