2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics 2008 Barcelona - European Society of Human Genetics
Keyword Index CK20: P04.137 classification: P01.001, P09.28 CLCN1: P01.212, P05.023, P06.302 CLCNKB: P05.012 CLD: P05.111 cleft lip and palate: C02.1, P03.36, P06.053, P10.07 cleft lip and/or cleft palate: P06.054 Cleft lip palate: P06.185 cleft lip: P01.259 Cleft Palate: C02.6, P01.259 cleidocranial dysplasia: P01.125 Clinical criteria checklist: P02.017 clinical decision making: EP14.20 clinical diagnosis of CLS: P01.079 clinical diagnosis: P01.275 clinical diagnostics: C04.6 clinical features: P02.047 clinical follow up: P10.07 clinical genetics: P01.254, P01.260, P02.129 clinical heterogeneity: P01.364 Clinical phenotypes: P02.004 clinical service: EP04.1 clinical utility: P09.65 clinical: P01.331, P08.29 Clinics: EP05.2 CLL: P04.105, P08.38 CLN7: P06.207 clonal evolution: P04.089 clonal rearrangements: P04.169 cloning studies: S01.2 Cloning: P08.60 clopidogrel responsiveness: P06.055 clopidogrel: P06.076, P06.141 CLSPN: P04.056 CMG2: P01.306 CML patients: P04.102 CML: P04.084, P04.091, P04.092, P04.093 CMPD: P04.105 CMT: P01.226, P01.232, P01.234, P01.235, P10.08 CMT1A: P01.237 CMT2: P01.227, P01.233 CNC: C05.1, P08.28 CNCs: P05.013 CNP: P01.107 CNR1 gene: P02.198 CNR1: P06.213 CNS: P05.168 CNTNAP2: P06.271 CNV: P01.320, S12.2 CNVs: S01.1 coagulation factor deficiency: P10.09 Coagulation: P06.009, P08.34 cocaine: P06.056 cochlear implants: P05.070 Cockayne syndrome: P01.261 coding polymorphisms: P06.091 Codon24: P01.018 coeliac disease: P05.024 coeliac: C08.5 coexistence: P01.367 coexpression: P05.057 Coffin-Lowry syndrome: P01.079 cognition: P06.025 cognitive outcome: P02.070 cohesin: S14.2 cohesinopathy: S14.2 COL1A1: P06.219 COL2A1: C11.2, P01.126, P01.128 COL4A1: P01.250 COL4A4: P01.249 collaboration: P09.03 collagen type VII: P05.038 Collagen VI: P06.057 colon cancer: P04.002, P04.021 colon polyps: P04.002 colorectal cancer: P04.005, P04.009, P04.010, P04.011, P04.027, P04.046, P04.137 Colorectal: C10.3, P04.008 Common Deletion: P04.142 common disease: P06.298 common diseases: P07.028, P07.117 common mutation: P07.116 communication: EP10.07, EP10.15 community genetics: P09.05 community genomics: P09.06 community: P09.64 comparative genomic hybridization: P04.199 Comparative sequence analysis: P10.01 competence: P09.07 competitive multiplex methylation-sensitive PCR: P02.056 complement genes: P06.292 Complete androgen insensitivity syndrome: P01.262 complex chromosomal aberrations: P04.106 complex chromosomal abnormality: P01.263 complex chromosomal rearrangement: P04.071 Complex Chromosome Rearrangement (CCR): P02.124 Complex disease: P06.151 complex karyotype: P04.108, P04.110 complex segregation analysis: P06.008 Complex traits: S06.2 complex Y: P02.225 computational genetics: P06.058 computational genome annotation: P02.036 confidentiality: EP14.02 Congenital adrenal hyperplasia: P05.025, P06.184 congenital ataxia: P06.059 congenital cardiac malformations: P01.264 Congenital Cataract: P01.051, P01.250 congenital contractural arachnodactyly: C11.3 Congenital deafness: P09.08 congenital heart defects: P01.265, P06.060, P06.111, P08.15 Congenital Heart Disease: P02.066, P02.135 Congenital hip dislocation: P06.061 congenital hyperinsulinism of infancy: P05.026, P05.027 congenital malformations: P01.337, P02.007, P02.093, P02.133 Congenital Muscular Dsytrophy: P01.202, P03.37 congenital nephrotic syndrome: C01.5, P05.028 congenital skeletal abnormalities: P02.076 congenital: P01.292 Connective tissue dysplasia: P06.062 connexin: P05.054 connexin26: P05.055, P05.068 connexine 26: P07.053 consanguineous marriage: P02.162 consanguineous: P09.18 consanguinity: EP10.08, P07.023 consent: P09.51 Contralateral prophylactic mastectomy: P04.039 cooley’s anaemia: P07.017 COPD: P06.014, P07.007 coping interventions: EP14.06 coping: EPL6.5 copper metabolism: P01.049, P05.139 Copy number change: C04.2 Copy number polymorphism: P07.029 copy number variant (CNV): PL2.5 Copy Number Variant: P02.125 Copy Number Variants: P02.032, P08.16 copy number Variation (CNV): P08.17 copy number variation: C13.3, P02.038, P02.039, P06.063, P06.073, P06.292, P07.030, P08.73 copy number: S01.3 cordocentesis: P03.38 core competence: P09.09 cornea: P01.310 corneal erosion: P06.064 Cornelia de Lange Syndrome: P01.266, P07.093, S14.2 coronary artery disease: P06.065, P06.102 coronary heart disease: P06.112, P06.236 corpus callosum agenesy: P01.322 Corpus callosum hypogenesis: C01.1 corpus callosum: P01.267, P02.090 cortical malformation: P02.033 cortisol: P07.061 Costello: P01.189 Counselling: P09.10, P09.11 counsellor-counselee relationship: EP10.24 Cowden Syndrome: P04.012, P04.190 COX-2: P04.170 Cox5a: P05.172 CPEO: P06.150 CpG island: P04.061, P06.307 Cranio-lenticulo-sutural dysplasia: P01.268 Craniosynostosis syndromes: P01.154 craniosynostosis: P01.127, P01.139, P01.156 CRC: P04.013 Creatine deficiency syndromes: P05.029 CREB signaling pathway: P06.066 CREBBP: P01.119, P01.269 cri du chat: P01.270 Crisponi syndrome: P01.271 CRLF1: P01.271 Croatian population: P07.043 Croatians: P07.114
Keyword Index Crohn: P07.022 Crohn’s disease: P06.067, P06.068, P06.069, P06.070, P06.071, P06.137 Crossover: C13.2 cRSS: P08.18 CRTC2: P06.268 cryopreservation: P01.272 Cryptic chromosomal rearrangements: P02.017 cryptic chromosome aberrations: P02.028 Cryptic deletion Xp21: P02.126 Cryptic interstitial deletion: P02.127 cryptorchidism: P01.363, P02.101 CSCE: P04.032, P06.128, P08.09 CSGE: P04.003 CTG expansion: P01.215 CTG repeat: P01.224 CTLA4 Gene: P06.119 CTLA-4: P06.072 CTNS: P01.052, P07.031 CTSK Gene: P05.165 Cultural diversity: P03.46 Culture: EP06.1 custom TaqMan assays: P08.53 cutis laxa: P01.273 Cutis verticis gyrata: P01.182 CVS: P03.01, P03.50 CX26 CX30: P05.069 Cyclin: C06.1 CYP17A1: P05.030 CYP1B1 gene: P04.138 CYP1B1: P01.290, P05.056, P06.241, P07.105 CYP21: P06.073 CYP21A2: P05.025 CYP2C19: P08.19 CYP2C8: P06.074 CYP2C9: P08.19, P08.82 CYP2D6: P05.031, P06.075, P07.032, P08.19 CYP2E1: P07.035 CYP3A4: P06.076 Cypriot: P01.055 Cyprus: EP10.05, P01.254 cystic fibrosis and hemoglobinopathies: EP01.08 Cystic fibrosis transmembrane regulator gene: P02.237 cystic fibrosis: C09.3, EP01.04, EP01.05, EP01.06, EP01.07, P01.025, P01.026, P01.029, P01.030, P01.031, P01.032, P01.033, P01.034, P01.036, P01.037, P01.039, P01.040, P02.231, P06.049, P07.033, P09.12, P09.13, P09.14, P09.20, P09.26, S02.1, S02.3 Cystic fibrosis-like: P01.035 cystic hygroma: P01.352 cystic renal diseases: P05.203 cystinosis: P01.052, P07.031 cystinuria: P01.053 cytochrome c oxidase: P05.172 Cytochrome P 450: P07.034 cytochrome P450 2D6: P06.078 cytochrome P450: P06.077, P08.84 cytochrome P-450: P07.035 Cytochrome: P04.138 cytogenetic accuracy: P02.128 cytogenetic analysis: P02.194 cytogenetic and molecular study: P02.235 cytogenetic counselling: P03.43 Cytogenetic: P02.140, P02.142, P02.226, P04.087, P04.116 Cytogenetics: P01.370, P02.051, P02.111, P02.129, P02.147, P02.148, P09.55 Cytokine genotyping: P06.203 cytokine: P06.027 cytokines genes: P06.079 cytokines: P05.101 cytopenia: P04.107 Cytosine Deaminase: P10.25 Czech dysplasia: P01.128 Czech population: P07.054 D18S535: P03.39 D4Z4: C12.2 Dandy Walker Malformation: P01.309 Dandy-Walker syndrome: P01.274 DAOA: P07.036 Data Analysis: P01.190 data collection: EP14.13 database: P01.200, P04.020, P04.131, P08.20, P08.54, P08.57, P08.61, P08.69, P09.15, P09.28, P09.34 Databases: P08.81 DAZ: P02.219 DCX: P04.168 De Morsier syndrome: P01.275 de novo balanced chromosomal rearrangements: P02.029 de novo rearrangements: C04.4 de novo: P01.230, P02.046, P02.130 deaf community: EP14.07 Deafness: C03.2, EP05.1, EP14.08, P01.276, P01.277, P01.343, P01.367, P05.070, P05.071, P05.074, P05.127, P05.207, P06.080, P06.152, P07.013, P07.037 Death: EP14.04 Decision Aids: EP11.2 decision making: EPL4.1 Decision Support: P09.58 decision-making: EPL4.4 defensin: S01.3 definition: P09.16 del(11)(q13.5-q14.3): P01.304 del(18)(q12.2q21.1): P02.096 del(2)(p15): P02.131 del(7q): P04.074 Del(X)(p22.3): P02.201 del11q13.5-14.3: P01.304 deletion 10q: P02.133 deletion 17q22-q23.3: P02.079 deletion 1p32: P02.134 deletion 3q25: P02.135 deletion 4q syndrome: P02.048 Deletion analysis: P05.063 deletion mutation: P01.208 deletion/duplication analysis: P01.221 deletion: P01.006, P01.015, P01.165, P01.216, P02.009, P02.044, P02.121, P02.132, P05.012 deletional and nondeletional mutations: P01.016 deletions and amplifications: P04.139 deliveries at term: P03.33 δβ deletion: P01.019 δβ deletions: P01.005 dementia: EP08.6 dendritic spines: P01.087 dependence receptor: P04.052 Depression: EP10.09, P07.036 Dermatoglyphics: P07.038 desaturase activity: P06.102 desmoid tumors: P04.002 Detoxification system: P06.081 developing nations: S03.2 developmental delay: P01.298, P02.084, P02.136, P06.255 Developmental Disorders: S08.1 developmental risk factors: P07.036 developmentally significant genes: P05.216 Dexter: P01.153 DFN3: P01.277 DFNA5: P05.071 DFNA8/A12/DFNB21: P05.195 DFNB1: P07.037 DGGE: P06.290 DHCR7 mutation: P03.76 DHFR: P06.206 DHPLC: P01.054, P01.065, P05.132 diabetes mellitus, type 2: P06.083 diabetes mellitus: P05.103, P06.165, P06.172 Diabetes: P06.082, P06.158, P07.039 diabetic microvascular complications: P06.293 diagnosis prenatal: P03.43 diagnosis: P01.042, P01.282, S07.2 Diagnostic: C04.2 diagnostics: P08.51 Diastrophic Dysplasia: P01.129 Dicentric Inv Dup: P02.137 Dicentric: P07.040 differential diagnosis: P04.131 differential methylation: P04.140 difficult asthma: P01.278 DiGeorge syndrome: P02.065 Digit ratio: P07.041 dilated cardiomyopathy: P01.279, P05.066 dilemma: EP01.02 direct-to-consumer: C14.2 disability: EP14.23, EW1.1 DISC1: P07.042 discordant results: P03.11 discrimination: EPL5.1 disease gene hunting: P02.036 disease gene: P08.57 disease predisposition: P09.32 disease: EP13.4 Dislipidemia: P07.109 dismorphology: P02.175 Dissection: S01.1
- Page 477 and 478: Author Index P07.117 Buil, A.: P06.
- Page 479 and 480: Author Index Cho, J.: P04.192, P08.
- Page 481 and 482: Author Index Damy, T.: P01.057 Damy
- Page 483 and 484: Author Index 0 Dror, A.: P05.074 Dr
- 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: Keyword Index cardiac: S04.1 Cardio
- Page 531 and 532: Keyword Index evolution: P02.112, P
- Page 533 and 534: Keyword Index 0 haemoglobinopathies
- Page 535 and 536: Keyword Index KCNJ11: P05.026 KCNQ1
- Page 537 and 538: Keyword Index MLH1: P04.010, P04.02
- 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 />
Crohn: P07.022<br />
Crohn’s disease: P06.067, P06.068,<br />
P06.069, P06.070, P06.071, P06.137<br />
Crossover: C13.2<br />
cRSS: P08.18<br />
CRTC2: P06.268<br />
cryopreservation: P01.272<br />
Cryptic chromosomal rearrangements:<br />
P02.017<br />
cryptic chromosome aberrations: P02.028<br />
Cryptic deletion Xp21: P02.126<br />
Cryptic interstitial deletion: P02.127<br />
cryptorchidism: P01.363, P02.101<br />
CSCE: P04.032, P06.128, P08.09<br />
CSGE: P04.003<br />
CTG expansion: P01.215<br />
CTG repeat: P01.224<br />
CTLA4 Gene: P06.119<br />
CTLA-4: P06.072<br />
CTNS: P01.052, P07.031<br />
CTSK Gene: P05.165<br />
Cultural diversity: P03.46<br />
Culture: EP06.1<br />
custom TaqMan assays: P08.53<br />
cutis laxa: P01.273<br />
Cutis verticis gyrata: P01.182<br />
CVS: P03.01, P03.50<br />
CX26 CX30: P05.069<br />
Cyclin: C06.1<br />
CYP17A1: P05.030<br />
CYP1B1 gene: P04.138<br />
CYP1B1: P01.290, P05.056, P06.241,<br />
P07.105<br />
CYP21: P06.073<br />
CYP21A2: P05.025<br />
CYP2C19: P08.19<br />
CYP2C8: P06.074<br />
CYP2C9: P08.19, P08.82<br />
CYP2D6: P05.031, P06.075, P07.032,<br />
P08.19<br />
CYP2E1: P07.035<br />
CYP3A4: P06.076<br />
Cypriot: P01.055<br />
Cyprus: EP10.05, P01.254<br />
cystic fibrosis and hemoglobinopathies:<br />
EP01.08<br />
Cystic fibrosis transmembrane regulator<br />
gene: P02.237<br />
cystic fibrosis: C09.3, EP01.04, EP01.05,<br />
EP01.06, EP01.07, P01.025, P01.026,<br />
P01.029, P01.030, P01.031, P01.032,<br />
P01.033, P01.034, P01.036, P01.037,<br />
P01.039, P01.040, P02.231, P06.049,<br />
P07.033, P09.12, P09.13, P09.14, P09.20,<br />
P09.26, S02.1, S02.3<br />
Cystic fibrosis-like: P01.035<br />
cystic hygroma: P01.352<br />
cystic renal diseases: P05.203<br />
cystinosis: P01.052, P07.031<br />
cystinuria: P01.053<br />
cytochrome c oxidase: P05.172<br />
Cytochrome P 450: P07.034<br />
cytochrome P450 2D6: P06.078<br />
cytochrome P450: P06.077, P08.84<br />
cytochrome P-450: P07.035<br />
Cytochrome: P04.138<br />
cytogenetic accuracy: P02.128<br />
cytogenetic analysis: P02.194<br />
cytogenetic and molecular study: P02.235<br />
cytogenetic counselling: P03.43<br />
Cytogenetic: P02.140, P02.142, P02.226,<br />
P04.087, P04.116<br />
Cytogenetics: P01.370, P02.051, P02.111,<br />
P02.129, P02.147, P02.148, P09.55<br />
Cytokine genotyping: P06.203<br />
cytokine: P06.027<br />
cytokines genes: P06.079<br />
cytokines: P05.101<br />
cytopenia: P04.107<br />
Cytosine Deaminase: P10.25<br />
Czech dysplasia: P01.128<br />
Czech population: P07.054<br />
D18S535: P03.39<br />
D4Z4: C12.2<br />
Dandy Walker Malformation: P01.309<br />
Dandy-Walker syndrome: P01.274<br />
DAOA: P07.036<br />
Data Analysis: P01.190<br />
data collection: EP14.13<br />
database: P01.200, P04.020, P04.131,<br />
P08.20, P08.54, P08.57, P08.61, P08.69,<br />
P09.15, P09.28, P09.34<br />
Databases: P08.81<br />
DAZ: P02.219<br />
DCX: P04.168<br />
De Morsier syndrome: P01.275<br />
de novo balanced chromosomal<br />
rearrangements: P02.029<br />
de novo rearrangements: C04.4<br />
de novo: P01.230, P02.046, P02.130<br />
deaf community: EP14.07<br />
Deafness: C03.2, EP05.1, EP14.08,<br />
P01.276, P01.277, P01.343, P01.367,<br />
P05.070, P05.071, P05.074, P05.127,<br />
P05.207, P06.080, P06.152, P07.013,<br />
P07.037<br />
Death: EP14.04<br />
Decision Aids: EP11.2<br />
decision making: EPL4.1<br />
Decision Support: P09.58<br />
decision-making: EPL4.4<br />
defensin: S01.3<br />
definition: P09.16<br />
del(11)(q13.5-q14.3): P01.304<br />
del(18)(q12.2q21.1): P02.096<br />
del(2)(p15): P02.131<br />
del(7q): P04.074<br />
Del(X)(p22.3): P02.201<br />
del11q13.5-14.3: P01.304<br />
deletion 10q: P02.133<br />
deletion 17q22-q23.3: P02.079<br />
deletion 1p32: P02.134<br />
deletion 3q25: P02.135<br />
deletion 4q syndrome: P02.048<br />
Deletion analysis: P05.063<br />
deletion mutation: P01.208<br />
deletion/duplication analysis: P01.221<br />
deletion: P01.006, P01.015, P01.165,<br />
P01.216, P02.009, P02.044, P02.121,<br />
P02.132, P05.012<br />
deletional and nondeletional mutations:<br />
P01.016<br />
deletions and amplifications: P04.139<br />
deliveries at term: P03.33<br />
δβ deletion: P01.019<br />
δβ deletions: P01.005<br />
dementia: EP08.6<br />
dendritic spines: P01.087<br />
dependence receptor: P04.052<br />
Depression: EP10.09, P07.036<br />
Dermatoglyphics: P07.038<br />
desaturase activity: P06.102<br />
desmoid tumors: P04.002<br />
Detoxification system: P06.081<br />
developing nations: S03.2<br />
developmental delay: P01.298, P02.084,<br />
P02.136, P06.255<br />
Developmental Disorders: S08.1<br />
developmental risk factors: P07.036<br />
developmentally significant genes: P05.216<br />
Dexter: P01.153<br />
DFN3: P01.277<br />
DFNA5: P05.071<br />
DFNA8/A12/DFNB21: P05.195<br />
DFNB1: P07.037<br />
DGGE: P06.290<br />
DHCR7 mutation: P03.76<br />
DHFR: P06.206<br />
DHPLC: P01.054, P01.065, P05.132<br />
diabetes mellitus, type 2: P06.083<br />
diabetes mellitus: P05.103, P06.165,<br />
P06.172<br />
Diabetes: P06.082, P06.158, P07.039<br />
diabetic microvascular complications:<br />
P06.293<br />
diagnosis prenatal: P03.43<br />
diagnosis: P01.042, P01.282, S07.2<br />
Diagnostic: C04.2<br />
diagnostics: P08.51<br />
Diastrophic Dysplasia: P01.129<br />
Dicentric Inv Dup: P02.137<br />
Dicentric: P07.040<br />
differential diagnosis: P04.131<br />
differential methylation: P04.140<br />
difficult asthma: P01.278<br />
DiGeorge syndrome: P02.065<br />
Digit ratio: P07.041<br />
dilated cardiomyopathy: P01.279, P05.066<br />
dilemma: EP01.02<br />
direct-to-consumer: C14.2<br />
disability: EP14.23, EW1.1<br />
DISC1: P07.042<br />
discordant results: P03.11<br />
discrimination: EPL5.1<br />
disease gene hunting: P02.036<br />
disease gene: P08.57<br />
disease predisposition: P09.32<br />
disease: EP13.4<br />
Dislipidemia: P07.109<br />
dismorphology: P02.175<br />
Dissection: S01.1
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