2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics 2008 Barcelona - European Society of Human Genetics
Keyword Index Marfan syndrome: P01.316, P05.118, P05.119, P05.120 Marfan: P01.176 Marital relation: EPL6.2 Marker chromosome 15: P02.081 Marker Chromosomes: P02.160 markers for forensic studies: P07.101 maternal age: P02.208 maternal plasma: P03.20 maternal risk factor: P05.034 maternal serum screening: P03.48 maternal uniparental disomy 14: C06.3 maternal: P01.307 Matrix Metalloproteinase-3: P06.164 matrix metalloproteinase-9 polymorphism: P06.165 matrix metalloproteinases genes: P06.052 maximal oxygen consumption: P06.166 Mayer-Rokitansky-Küster-Hauser: P01.137 MBD2: P10.04 MBL: P06.167 mc4r: P05.147 MCA/MR: C04.4, P02.020 MCKD1: P06.168 M-CMTC: P01.315 MCPH1: P05.121 MCT8: C07.6, P01.100 MDR: P04.097 MDR-1 polymorphisms: P06.055 MDR3 gene: P05.001 MDS: P04.104, P04.106, P04.112, P04.113 mdx 4CV: P10.11 measure development: EPL6.5 mechanism: P05.062 MECP2 gene: P01.080, P01.086, P01.104, P01.108 MECP2: C07.3, P01.101, P01.102, P01.103, P01.114, P01.115 Medical genetic research: P01.002 Medical genetic services: S03.2 medical genetics: P09.42 medical rehabilitation: P10.03 Meesman corneal dystrophy: P01.310 MEF2A: P06.198 MEFV GENE: P01.287 MEFV: P01.344, P05.044, P06.103 meiosis: P02.158, P02.227, P02.232 meiotic abnormalities: P02.227 Meis1: P06.169 melanocortin-4 receptor: P05.147 melanocytic nevi: P04.161 melanoma cell lines: P04.139 melanoma: P04.159, P04.160, P04.161, P07.085, P07.086, P09.43 MELAS syndrome.: P05.129 melting curve analyses: P06.308 Memory: P06.251 Men: P07.041 MEN2A: P04.195 meningioma: P04.162 Menopause: P05.160 mental and motor development: EP14.19 Mental deficiency: EP10.19 mental fatigue: P06.170, P06.171 mental maternal representations: EP14.01 Mental Retardation (MR): P02.124 mental retardation/ congenital abnormalities: P02.029 Mental retardation/Developmental delay: P02.134 Mental Retardation: C07.1, P01.071, P01.085, P01.101, P01.317, P01.323, P01.362, P02.001, P02.014, P02.015, P02.018, P02.024, P02.030, P02.034, P02.037, P02.038, P02.092, P02.125, P02.145, P02.161, P02.162, P02.163, P02.204, P02.211, P05.122, P08.45, PL2.4, PL3.1 mesenchimal stem cell: P08.46 mesenchymal: P10.23 meta-analysis: P06.172, P07.087, P08.47, PL2.2, S06.2 Metabolic Disorder: C15.4 metabolic genes: P07.058 metabolic syndrom: P06.112 metabolic syndrome: P06.173 metabolism: P01.047 metabonomics: PL1.1 metachromaic leukodystophy: P01.042 metastasis: P10.14 methemoglobinemia: P07.088 method: P01.112 Methods: P08.21 methotrexate: P08.55 Methylated DNA Immunoprecipitation: P03.54 methylation status: P02.054 methylation: P03.41, P04.120, P08.37, P08.48, P08.49 methylenetetrahydrofolate reductase gene: P06.155 methyl-group pathway: P06.174 Methylmalonic Acidemia: C15.4, P01.062 Mexican patients: P05.206 Mexican population: P07.091 Mexico: P06.186, P06.304 M-FISH: P02.197 MFN2 point mutations: P01.229 MFN2: P01.227, P01.232, P01.233 MFSD8: P06.207 MGMT: P04.149 MHC: P06.202, P08.50 mice: P02.031 microarray gene expression: P08.52 MICROARRAY: C10.3, P02.026, P02.038, P04.124, P04.125, P07.132, P08.51 microcephalic dwarfism: C12.1 microcephaly,: P02.176 Microcephaly: P01.086, P01.318, P02.009, P02.062, P02.163, P02.174, P05.122, P06.175 microdeletion syndrome: P02.031, P02.164 microdeletion: P02.021, P02.033, P02.042, P02.051, P02.220, P05.178, P05.182 microdissection: P02.026 microduplication 22q11: P02.064 microduplication: C01.2, C04.3 micro-duplication: P02.002 Micrognathia: C02.6, P03.49 micrometastases: P04.132, P04.137 micronutrients: P01.046 microphthalmia: P01.340 microRNA: C05.5, C08.2, C13.5, P04.103, P05.021, P05.123, P05.124, P06.176, P06.177, P08.52, P08.53, S04.1 microsatellite D3S1358, TH01, FGA: P07.089 microsatellite instability: P04.009 Microsatellite marker: P06.178 microsatellites: P03.70 microspherophakia: C02.3 microtia: P03.36 microtubules: C12.3 microvariation: P08.73 MID1 complex: P05.150 MID1 transport: C12.3 Midline Facial Defects with Hipertelorism: P02.165 Midwife: EP14.12 midwives: P09.07 MIGRAINE: P06.108, P06.151, P06.179 Miller-Dieker: P02.166 Milroy disease: P01.173 Milroy: P01.172 Minimal residual disease: P04.168 minor congenital defects: P01.319 minors: EPL2.1 miRNA signatures: P04.103 miRNA: P01.092, P05.033, P06.193, P08.59 miscarriage: P02.191, P03.47 misdiagnosis rate: P02.128 misdiagnosis: P03.26 mislocalization: P05.052 mismatch repair genes: P04.009, P04.020 Missed abortion: P03.50 missed abortus: P02.167 missense mutations: P04.156 misuse: P09.11 mitochondria depletion: P01.076 Mitochondria: P04.187, P05.125, P06.150, P06.180, P06.181 mitochondrial complex I deficiency: P10.20 mitochondrial complex III: C03.1 Mitochondrial disorders: P05.126 Mitochondrial DNA mutations: P04.174 mitochondrial DNA: P02.236, P04.021, P05.127, P05.128, P06.182, P08.54 Mitochondrial encephalomyopathy: P05.129 mitochondrial haplogroups: P07.139 Mitochondrial mutation.: P05.129 mitochondrial mutation: P05.114 Mitochondrial mutations: P02.230, P05.167 mitochondrial myopathy: P05.130 mitochondrial respiratory chain defects: S11.2 mitochondrial tRNA gene: P05.066 mitotic recombination: P01.196 Mitotic spindle: P05.006 mixed human lyphocytes culture: P02.186 MJD: EP08.3, EP08.4, P07.090 MKS1: P05.011 MKS3: P05.011
Keyword Index MLH1: P04.010, P04.022, P04.023, P04.204 MLL: P04.095 MLPA (multiplex ligation dependent probe amplifica: P06.315 MLPA: P01.103, P01.115, P01.221, P01.320, P01.362, P02.001, P02.008, P02.014, P02.015, P02.050, P02.074, P03.11, P03.51, P03.52, P03.62, P04.027, P05.095, P05.120, P05.183, P06.183, P06.184, P08.50, P08.63 MLS: P01.321 MMP20: P05.005 MMR: P04.016 Modifiers: P07.064 modifying factor: P05.036 modulation factors: P01.105 MODY3: P05.131 moebius syndrome: P01.322 Molar Tooth Sign: P01.309 Molecular Analysis: P05.032 molecular basis: P01.011 Molecular Biomarkers: S03.4 Molecular cytogenetics: P02.168, P02.196 molecular defects: P01.201 molecular diagnosis: P04.065 molecular diagnostics: P01.024, P01.287 Molecular Genetics testing: P09.44 molecular genetics: P01.156, P01.279, P09.55 molecular interaction networks: S12.2 molecular profiling: P04.014, S12.1 MOMO syndrome: P01.323 Monilethrix: P05.213 monosomy 21: P02.169 monosomy 3: P04.205 monosomy 3p: P02.210 Monozygotic twins: P06.126 monozygotic: P01.044 Mood Disorder: P06.001, P06.121 Mood disorders: P06.177 morbidity: P09.52 Morgagni: P02.139 Morocco: P07.023 Morpholino Antisense Oligonucleotides (AMOs): C15.2 Morquio IVB type: P01.043 Mosaic aneuploidy: P03.53 mosaic NF1: P01.197 mosaic trisomy 22: P01.324 mosaic: P02.215 mosaicism: P01.166, P02.084, P02.102, P02.113, P03.45, P03.63, P05.132, P05.146 MOTIVATION: EPL3.3 motor neuron disease: P06.018 MOTOR NEURON: P05.181 mouse models: P08.61 Mowat-Wilson syndrome: P01.326 Mowat-Wilson: P01.325 MPNST: P01.194 MPS 1: P01.044 MPZ: P01.226, P01.256 MRI: P01.274 mRNA decay: P01.162 mRNA expression: P08.66 mRNA: P01.038 MRP1: P04.097, P04.098 MRT3: C14.3 MSH2: P04.010, P04.017, P04.024 MSH6: P04.011 MS-MLPA: P01.090, P02.055, P02.058, P02.060 MSUD: P09.22 MSX1 gene: P06.185 mt DNA: P07.084 mtDNA: P04.142, P05.064, P05.130, P06.298, P07.065, P07.135 MTHFR C677T: P06.065 MTHFR polymorphism: P04.163 MTHFR severe deficiency: P05.134 MTHFR: P05.133, P05.197, P06.050, P06.186, P06.187, P06.204, P06.278, P08.55 MTHFR-C677T variant: P07.091 mTOR: P04.123 MTR: P04.164 Mucopolysaccharidosis VII: P01.327 Muliple Sclerosis: P05.125 multicultural: EP10.12, P09.18 multidisciplinary approach: C11.4 Multidisciplinary: EP05.2 Multidrug Resistance Protein 1: P07.027 multiple congenital anomalies: P02.130 multiple congenital anomaly syndrome: P01.096 Multiple endocrine neoplasia type 2A (MEN2A): EP13.8 multiple endocrine neoplasia: P04.165 Multiple Ligation Probe Amplification: P02.125 multiple malformations: P01.330 multiple myeloma: P04.114, P06.074 multiple primary tumors: P04.166 Multiple sclerosis: P01.345, P05.191, P06.010, P06.188, P06.189, P06.190, P06.191, P06.192, P06.193, P06.197, P07.067 Multiple sulfatase deficiency: P01.061 Multiplex Assays: P07.074 Multiplex Ligation Probe Amplification: P08.45 multiplex ligation-dependent amplification (MLPA): P01.238 Multiplex PCR: P06.191 multiplex STRs: P04.094 multiplex: P08.74 multisystem type I pseudohypoaldosteronism: P01.328 Multple osteochondromas: P01.160 Mulvihill-Smith: P01.329 Munc13-4 mutations: P05.040 muscle fiber: P06.309 muscle: P01.306 muscular disorders: P05.124 muscular dystrophy: P08.25 muscular weakness: P01.206 Muscular: P07.119 musical aptitude: P06.194 muslim world: EP10.11 mutation 35delG and M34T: P07.092 mutation analysis: P01.040, P05.117, P06.248 Mutation database: P08.15 mutation detection: P04.031, P05.148, P06.195 mutation scanning: P04.026, P06.196 mutation screening: P06.093, P06.290 mutation/expression: P04.176 Mutation: P01.005, P01.006, P01.017, P01.038, P01.062, P01.159, P01.179, P01.205, P01.209, P01.242, P01.294, P01.369, P01.370, P04.062, P04.159, P05.061, P05.075, P05.110, P05.156, P05.173, P06.125, P06.201, P06.211, P06.234, P08.10, P08.11, P08.56, P08.57, PL2.4 mutations: P01.056, P01.200, P04.001, P04.092, P04.127, P05.053, P05.064, P05.065, P05.119, P05.135, P06.019, P06.149, P08.79 MUTYH: P04.004 MUTYH-associated polyposis: P04.025 MyBPC3: P01.300, P01.301 myelin: P05.136 Myelodysplastic Syndrome: P04.107, P04.109 myelodysplastic syndromes: P04.071 myelodysplastic: P04.115 Myelodysplatic syndrome: P04.116 myeloid leukemia: P04.077 Myeloperoxidase: P06.226 Myeloproliferative disorders: P04.117 myeloproliferative neoplasms: P04.083 myeloproliferative: P04.115 MYH: P04.011 MYH7: P05.065 MYO9B: P06.197 MYOC: P06.241 myocardial infarction: P05.137, P05.138, P06.198 Myocilin: P05.057 myopathy: P01.206 myopathyc process: P05.133 myopia: P06.199 Myosin Binding Protein C: P05.090 Myotonia congenita: P01.212, P05.023 myotonia: P06.302 Myotonic dystrophy type 1: P01.215 Myotonic dystrophy type 1: P01.224, P05.032 Myotonic Dystrophy: EPL6.2, P01.213, P01.214, P06.200 Na Channelopathy: P05.177 Nager syndrome: P03.49 Nahuas: P07.032 Nail-patella syndrome: P01.330, P06.201 NAIP: P01.216 narrative perspective: EP10.21 Narrow chest: P01.143 NASBA: P08.51 NAT2: P06.011, P06.047, P06.289 natural autoantibodies: P06.202 Natural background radiation: P07.029 natural selection: P06.262, P06.263
- Page 485 and 486: Author Index Fernandez-Real, J.: P0
- Page 487 and 488: Author Index P06.310 Gavriliuc, A.
- Page 489 and 490: Author Index Grinberg, Y. I.: P01.0
- Page 491 and 492: Author Index Hood, L.: PL4.1 Hoogeb
- Page 493 and 494: Author Index 0 P02.240, P09.63 Kala
- Page 495 and 496: Author Index Kongstad, O.: P09.39 K
- Page 497 and 498: Author Index Lee, C.: C13.3 Lee, D.
- Page 499 and 500: Author Index Mahjoubi, F.: P02.045,
- Page 501 and 502: Author Index P04.196 Meindl, A.: c0
- Page 503 and 504: Author Index 00 Mottaghi, L.: P01.0
- Page 505 and 506: Author Index 0 Oh, T. Y.: P01.084 O
- Page 507 and 508: Author Index 0 Peñaloza, R.: P05.2
- Page 509 and 510: Author Index 0 Proverbio, M.: P05.0
- Page 511 and 512: Author Index 0 Rogers, M.: EP14.18
- Page 513 and 514: Author Index 0 Scarcella, M.: P05.0
- Page 515 and 516: Author Index P06.179 Sobrino, B.: P
- Page 517 and 518: Author Index Taschner, P. E. M.: P0
- Page 519 and 520: Author Index Urreizti, R.: P01.050,
- Page 521 and 522: Author Index Voegele, C.: P04.121 V
- Page 523 and 524: Author Index 0 P04.095, P04.106 Zem
- Page 525 and 526: Keyword Index AMACR gene: P04.182 a
- Page 527 and 528: Keyword Index cardiac: S04.1 Cardio
- Page 529 and 530: Keyword Index Crohn: P07.022 Crohn
- Page 531 and 532: Keyword Index evolution: P02.112, P
- Page 533 and 534: Keyword Index 0 haemoglobinopathies
- Page 535: Keyword Index KCNJ11: P05.026 KCNQ1
- Page 539 and 540: Keyword Index osteochondrodysplasia
- Page 541 and 542: Keyword Index PXE-like syndrome: P0
- Page 543 and 544: Keyword Index 0 sperm: P02.205 sper
- Page 545: Keyword Index venous thrombosis: P0
Keyword Index<br />
Marfan syndrome: P01.316, P05.118,<br />
P05.119, P05.120<br />
Marfan: P01.176<br />
Marital relation: EPL6.2<br />
Marker chromosome 15: P02.081<br />
Marker Chromosomes: P02.160<br />
markers for forensic studies: P07.101<br />
maternal age: P02.208<br />
maternal plasma: P03.20<br />
maternal risk factor: P05.034<br />
maternal serum screening: P03.48<br />
maternal uniparental disomy 14: C06.3<br />
maternal: P01.307<br />
Matrix Metalloproteinase-3: P06.164<br />
matrix metalloproteinase-9 polymorphism:<br />
P06.165<br />
matrix metalloproteinases genes: P06.052<br />
maximal oxygen consumption: P06.166<br />
Mayer-Rokitansky-Küster-Hauser: P01.137<br />
MBD2: P10.04<br />
MBL: P06.167<br />
mc4r: P05.147<br />
MCA/MR: C04.4, P02.020<br />
MCKD1: P06.168<br />
M-CMTC: P01.315<br />
MCPH1: P05.121<br />
MCT8: C07.6, P01.100<br />
MDR: P04.097<br />
MDR-1 polymorphisms: P06.055<br />
MDR3 gene: P05.001<br />
MDS: P04.104, P04.106, P04.112, P04.113<br />
mdx 4CV: P10.11<br />
measure development: EPL6.5<br />
mechanism: P05.062<br />
MECP2 gene: P01.080, P01.086, P01.104,<br />
P01.108<br />
MECP2: C07.3, P01.101, P01.102, P01.103,<br />
P01.114, P01.115<br />
Medical genetic research: P01.002<br />
Medical genetic services: S03.2<br />
medical genetics: P09.42<br />
medical rehabilitation: P10.03<br />
Meesman corneal dystrophy: P01.310<br />
MEF2A: P06.198<br />
MEFV GENE: P01.287<br />
MEFV: P01.344, P05.044, P06.103<br />
meiosis: P02.158, P02.227, P02.232<br />
meiotic abnormalities: P02.227<br />
Meis1: P06.169<br />
melanocortin-4 receptor: P05.147<br />
melanocytic nevi: P04.161<br />
melanoma cell lines: P04.139<br />
melanoma: P04.159, P04.160, P04.161,<br />
P07.085, P07.086, P09.43<br />
MELAS syndrome.: P05.129<br />
melting curve analyses: P06.308<br />
Memory: P06.251<br />
Men: P07.041<br />
MEN2A: P04.195<br />
meningioma: P04.162<br />
Menopause: P05.160<br />
mental and motor development: EP14.19<br />
Mental deficiency: EP10.19<br />
mental fatigue: P06.170, P06.171<br />
mental maternal representations: EP14.01<br />
Mental Retardation (MR): P02.124<br />
mental retardation/ congenital abnormalities:<br />
P02.029<br />
Mental retardation/Developmental delay:<br />
P02.134<br />
Mental Retardation: C07.1, P01.071,<br />
P01.085, P01.101, P01.317, P01.323,<br />
P01.362, P02.001, P02.014, P02.015,<br />
P02.018, P02.024, P02.030, P02.034,<br />
P02.037, P02.038, P02.092, P02.125,<br />
P02.145, P02.161, P02.162, P02.163,<br />
P02.204, P02.211, P05.122, P08.45, PL2.4,<br />
PL3.1<br />
mesenchimal stem cell: P08.46<br />
mesenchymal: P10.23<br />
meta-analysis: P06.172, P07.087, P08.47,<br />
PL2.2, S06.2<br />
Metabolic Disorder: C15.4<br />
metabolic genes: P07.058<br />
metabolic syndrom: P06.112<br />
metabolic syndrome: P06.173<br />
metabolism: P01.047<br />
metabonomics: PL1.1<br />
metachromaic leukodystophy: P01.042<br />
metastasis: P10.14<br />
methemoglobinemia: P07.088<br />
method: P01.112<br />
Methods: P08.21<br />
methotrexate: P08.55<br />
Methylated DNA Immunoprecipitation:<br />
P03.54<br />
methylation status: P02.054<br />
methylation: P03.41, P04.120, P08.37,<br />
P08.48, P08.49<br />
methylenetetrahydr<strong>of</strong>olate reductase gene:<br />
P06.155<br />
methyl-group pathway: P06.174<br />
Methylmalonic Acidemia: C15.4, P01.062<br />
Mexican patients: P05.206<br />
Mexican population: P07.091<br />
Mexico: P06.186, P06.304<br />
M-FISH: P02.197<br />
MFN2 point mutations: P01.229<br />
MFN2: P01.227, P01.232, P01.233<br />
MFSD8: P06.207<br />
MGMT: P04.149<br />
MHC: P06.202, P08.50<br />
mice: P02.031<br />
microarray gene expression: P08.52<br />
MICROARRAY: C10.3, P02.026, P02.038,<br />
P04.124, P04.125, P07.132, P08.51<br />
microcephalic dwarfism: C12.1<br />
microcephaly,: P02.176<br />
Microcephaly: P01.086, P01.318, P02.009,<br />
P02.062, P02.163, P02.174, P05.122,<br />
P06.175<br />
microdeletion syndrome: P02.031, P02.164<br />
microdeletion: P02.021, P02.033, P02.042,<br />
P02.051, P02.220, P05.178, P05.182<br />
microdissection: P02.026<br />
microduplication 22q11: P02.064<br />
microduplication: C01.2, C04.3<br />
micro-duplication: P02.002<br />
Micrognathia: C02.6, P03.49<br />
micrometastases: P04.132, P04.137<br />
micronutrients: P01.046<br />
microphthalmia: P01.340<br />
microRNA: C05.5, C08.2, C13.5, P04.103,<br />
P05.021, P05.123, P05.124, P06.176,<br />
P06.177, P08.52, P08.53, S04.1<br />
microsatellite D3S1358, TH01, FGA:<br />
P07.089<br />
microsatellite instability: P04.009<br />
Microsatellite marker: P06.178<br />
microsatellites: P03.70<br />
microspherophakia: C02.3<br />
microtia: P03.36<br />
microtubules: C12.3<br />
microvariation: P08.73<br />
MID1 complex: P05.150<br />
MID1 transport: C12.3<br />
Midline Facial Defects with Hipertelorism:<br />
P02.165<br />
Midwife: EP14.12<br />
midwives: P09.07<br />
MIGRAINE: P06.108, P06.151, P06.179<br />
Miller-Dieker: P02.166<br />
Milroy disease: P01.173<br />
Milroy: P01.172<br />
Minimal residual disease: P04.168<br />
minor congenital defects: P01.319<br />
minors: EPL2.1<br />
miRNA signatures: P04.103<br />
miRNA: P01.092, P05.033, P06.193, P08.59<br />
miscarriage: P02.191, P03.47<br />
misdiagnosis rate: P02.128<br />
misdiagnosis: P03.26<br />
mislocalization: P05.052<br />
mismatch repair genes: P04.009, P04.020<br />
Missed abortion: P03.50<br />
missed abortus: P02.167<br />
missense mutations: P04.156<br />
misuse: P09.11<br />
mitochondria depletion: P01.076<br />
Mitochondria: P04.187, P05.125, P06.150,<br />
P06.180, P06.181<br />
mitochondrial complex I deficiency: P10.20<br />
mitochondrial complex III: C03.1<br />
Mitochondrial disorders: P05.126<br />
Mitochondrial DNA mutations: P04.174<br />
mitochondrial DNA: P02.236, P04.021,<br />
P05.127, P05.128, P06.182, P08.54<br />
Mitochondrial encephalomyopathy: P05.129<br />
mitochondrial haplogroups: P07.139<br />
Mitochondrial mutation.: P05.129<br />
mitochondrial mutation: P05.114<br />
Mitochondrial mutations: P02.230, P05.167<br />
mitochondrial myopathy: P05.130<br />
mitochondrial respiratory chain defects:<br />
S11.2<br />
mitochondrial tRNA gene: P05.066<br />
mitotic recombination: P01.196<br />
Mitotic spindle: P05.006<br />
mixed human lyphocytes culture: P02.186<br />
MJD: EP08.3, EP08.4, P07.090<br />
MKS1: P05.011<br />
MKS3: P05.011
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