2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics 2008 Barcelona - European Society of Human Genetics
Keyword Index β-Catenin: P04.173 β-globin: P01.007 β-RsaI: P01.007 β-thalassemia: C08.4, P01.008, P10.28 B beta 3 integrin: P06.046 B4GALNT1: P07.123 BAALC: P04.080 BAC array CGH: P02.025 BAC clones: P04.058 bacterial infection: P06.285 balanced rearrangements: S07.2 balanced translocation: P01.251 Balkan Endemic Nephropathy: P07.015 Bannayan-Riley-Ruvalcaba syndrome: P04.190 Baraitser-Winter syndrome: P03.31 Bardet Bidl Syndrome: P01.252 Bardet Biedl syndrome: P05.010 Bardet-Biedl syndrome: P05.011 Bartter syndrome: P05.012 basal cell carcinoma: P04.151, P04.163 BAX gene: P04.030 B-catenin: P04.100 B-cell: P04.105 BCL3 gene: P06.054 BclI polymorphism: P06.039 BclI, Tth111I polymorphisms: P01.278 BCOR gene: P01.336 BCR/ABL fusion: P04.090 BCR/ABL: P04.083 bcr-ABL: P04.084, P04.091, P04.092, P04.135 Bdnf: P05.105 Becker muscular dystrophy: P01.225 Beckwith - Wiedemann: P02.053 Beckwith-Wiedemann syndrome: P02.055, P08.37 Beemer-Langer: P01.142 behavioural phenotype: P02.040, P02.141 Behçet’s disease: P08.06 benign familial neonatal convulsions: C06.2 Berardinelli-Seip: P01.253 Best Care: EP13.5 beta globin gene: P01.011 Beta Talassemia: P01.012 Beta thalassemia: P01.009, P07.016 beta-globin: P01.017 beta-thalassaemia: P07.017 Beta-thalassemia intermedia: P01.013 Beta-thalassemia: P10.04, P10.05 Biallelic BRCA2: P01.254 biallelic mutations: P04.025 Bicuspid aortic valve: P01.334 Bihor county: EP10.06 Binding motif: P08.31 biobank: P08.07 biobanking: EP14.02 biochip: C10.4, P08.80 Bioinformatics: P06.040, P08.08, P08.41 biological relatedness: P06.058 biomarkers: P03.18, P03.19 BioNumerics: P08.09 biotechnology: P09.42 bipolar affective disorder: P06.261 bipolar disorder: P06.041, P06.116 Birth cohort: P07.042 birth defect: P01.145, P01.357 birth defects: P05.216 Birt-Hogg-Dube: P04.123 bisphosphonates: P10.19 bisulfite: P08.48 bladder cancer: P04.124, P04.125, P04.126, P04.127 Bladder Transitional Cell Carcinoma: P04.128 blastogenesis: P01.148 bleomycin sensitivity: P02.123 bleomycin: P01.332 blepharocheilodontic syndrome: P01.255 blood donation for genomic research: EPL5.3 blood pressure: P06.165 Blood Stem Cell Transplants: P08.42 blood: P07.082 blstogenesis defect: P01.357 BM: P06.057 BMP: P05.084 BMPR1A: P04.007 BMPR2 mutations: P09.56 Bone Growth: P10.24 bone malformation: P01.124 bone marrow transplantation: P04.135 Bone Mineral Density: P05.049 bone mineral parameters: P07.018 Boyadjiev-Jabs syndrome: P01.268 BPES: P02.111, P05.013 brachydactyly: P01.130 Brachymetafalangia: P02.005 brain asymmetry: P06.005 brain hemorrhage: C03.5 brain malformations: P03.74 brain: P06.078 Branchial-oto-renal syndrome: P05.015 BRCA 1: C10.6 BRCA genes: P04.031 BRCA mutations: P04.048 BRCA: EP01.02, EP01.03, EP07.1, EP13.1, P04.041, P04.042, P08.09, P08.39 BRCA1 5382 insC: P04.041 BRCA1 gene mutation: P04.065 BRCA1/2 mutations: P04.039 BRCA1/2/X: P04.029 BRCA1/2: EP07.2, EP10.03, EP11.1, EP12.1, EP14.03, EPL1.1, P04.044, P04.045, P04.051 BRCA1/BRCA2 mutation carriers: S05.2 BRCA1/BRCA2: P04.040 BRCA1: C10.1, EPL1.3, P04.032, P04.033, P04.034, P04.035, P04.036, P04.037, P04.038, P04.043, P04.053, P04.057, P04.067, P04.068, P04.069, P04.184, P06.196, P07.019, P08.40, P09.01, S05.3 BRCA2: EP07.3, EPL1.3, P04.032, P04.033, P04.034, P04.035, P04.057, P04.068, P06.196, P07.019, P09.01, S05.3 break point: P04.084 breakpoint: P02.026, P02.112 breast and ovarian cancer syndrome: EP10.03 breast and ovarian cancer: EPL1.3, P04.036 Breast cancer incidence: EP10.06 breast cancer subtypes: P04.029 breast cancer: C10.6, C14.4, EP07.2, EP09.1, EP10.04, EP10.05, EP10.16, EP11.1, EPL1.1, P01.195, P04.037, P04.039, P04.041, P04.042, P04.043, P04.044, P04.045, P04.046, P04.047, P04.048, P04.049, P04.050, P04.051, P04.052, P04.053, P04.054, P04.055, P04.056, P04.059, P04.062, P04.063, P04.064, P04.067, P04.180, P06.042, P07.019, P07.020, P07.021, P08.52, S05.2, S06.1 Breast carcinoma: P04.030 Breast Ovarian Cancer: P04.035 bronchial asthma: P06.318 Brugada Syndrome: P05.177 BSCL2: P01.253, P05.016 Burkitt lymphoma: P02.171 BWS: P02.057 C syndrome: P05.020 c.1528G>C prevalent mutation: P07.076 C1 inhibitor: P05.017 C4: P06.073 C7: P06.188 Ca homeostasis: P06.321 CAD: P06.031, P06.048 CADASIL: P05.018, P07.094 cadherin: P01.247, PL2.4 Cafe-au-lait spots: P01.193 CAG repeat: P04.183 CAG repeat: P04.185 CAGE: PL3.2 Cajal-Retzius neurons: S04.2 calcinerin pathway: P06.043 CALM/AF10: C10.5 CALM: P04.085 Campomelic dysplasia: P01.150 Camptomelic dysplasia: P01.123 cancer epigenetics: P04.140 cancer genetics: EP14.06, EPL6.5 cancer risk: P02.115 Cancer Stem Cell: P04.128, P04.130 cancer syndromes: P04.131 Cancer Worry: EP10.04 cancer: EP08.5, EP10.09, EP14.04, EP14.05, EPL3.2, P04.008, P04.122, P04.129, P04.202, P08.10, S04.3 Candidate gene: P02.203, P06.040, P06.255 candidate genes: P02.234, P06.061, P06.259 Cap-Analysis Gene Expression: PL3.2 capillary electrophoresis: P08.29, P08.71 Capillary malformation: C06.4 Carbohydrate: P06.212 CARD15, TNF-alpha, IL23R, ATG16L1 genes: P06.139 CARD15/NOD2: P01.344 CARD15: P06.067, P07.022 cardiac development: C04.5 cardıac ınvolvement: P01.147 cardiac remodeling: P06.043, P06.321 Cardiac screening: EP03.1
Keyword Index cardiac: S04.1 Cardiofaciocutaneous syndrome: P01.179 Cardiomyopathies: C06.6 cardiomyopathy: P01.048, P05.091, P08.11 Cardiovascular disease: P06.044, P06.055, P06.141 carrier frequency: P07.076, P07.092, P09.46 carrier: P02.175 carriership: P01.210 cascade screening: EP10.08, P01.299 cascade testing: P09.12 Case-Control Studies: P06.205 Case-Control study: P06.124, P06.139, P07.020 cat eye: P03.52 catch 22: P02.066 Cat-Eye syndrome: P03.32 Cathepsin B: P04.148 CAT-interruptions: P07.120 cattle: P01.153, P02.100 caudal regression: P01.358 causality: P08.12 CBAVD: P09.13 CBS deficiency: P01.050 CCAM: P03.73 CCDS: P08.27 CCM: P05.019 CD14: P06.285 CD24: P06.279 CD96: P05.020 CDG Ia: P10.06 CDG syndrome: P01.273 CDH23: P06.210 CDK4: P04.202 CDK5R1: P05.021, P08.13 CDKL5 gene: P01.108 CDKL5: P01.106 CDKN2A , BRAF: P04.139 CDKN2A: EPL3.5, P04.160, P07.085, P09.43 cDNA AFLP: P04.148 cDNA: P06.084 CEA: P04.132 celiac disease: P06.045 cell free DNA: P03.56 cell line: P07.082 cell-free DNA: P04.157 cell-free fetal DNA: P03.21, P03.33, S10.2 CENPJ: P06.175 census: EP14.11 Centrosome: P05.006, PL2.1 CEP290: P05.113 cerebellar atrophy: P06.059 Cerebellum Hypoplasia: P01.353 cerebellum: P02.109, P05.100, P06.144 cerebral cortex development: P08.26 cerebral cortex: S04.2 cerebral infarction: P06.046 Cerebral palsy: P01.100 CERKL: P05.170 Ceruloplasmin: P05.022 cerumen: P06.038 cervical cancer: P04.133, P06.047 cervical dysplasia: P06.186 CETP: P06.048, P06.157 CF: P01.036, P07.033, P09.14, S02.3 CFC: P01.184, P01.189 CFTR gene mutation: P06.316 CFTR gene: P01.026, P02.231 CFTR mutations: P01.035 CFTR: P01.028, P01.029, P01.030, P01.031, P01.036, P01.037, P01.038, P06.049, P07.033, P07.083, P08.35, S02.3 CGG repeats: P01.111 CGG-repeat: P05.162 CGH: P02.027, P02.122, P04.060, P04.103 CGH-array: P04.046 CGH–Arrays: P02.087 channelopathies: P05.096 CHAPERONE: P10.12 Charcot-Marie-Tooth (CMT) disease: P01.231 Charcot-Marie-Tooth disease 1A (CMT1A): P01.238 Charcot-Marie-tooth Disease: P01.228, P01.236 Charcot-Marie-Tooth: P01.229, P01.230, P01.256 CHARGE syndrome: P01.122 CHARGE: P01.120, P01.121 CHD: P06.050 CHD7: P01.120, P01.121 Chikungunya virus: P08.14 child follow-up: EP14.19 childhood genetic disorders: P09.02 childhood leukemia: P04.086 children: EPL2.1, P01.272, P01.347, P06.062, P06.140 chimaerin: P04.134 chimeric status: P04.094 chimerism: P04.135, P04.152 chip: P08.56 CHNRNA4: P01.257 Choice of spouse: P07.023 Choices: EPL4.3 Choix du conjoint: P07.024 cholecystokinin-tetrapeptide (CCK-4): P06.051 cholestryl ester transfer protein: P07.025 chondrodysplasia: P01.124, P01.153 chorion villi: P03.51 choroidal coloboma: P02.136 Chromatin immunoprecipitation: P08.31 chromatin remodelling: C07.3 chromatography: P01.004 chromosoma: P02.113 Chromosomal aberration: P02.022, P02.146 chromosomal aberrations: P02.114, P02.115, P03.38, P07.026 chromosomal abnormalities: P02.168, P02.170, P02.182, P03.30, P03.34, P04.075 chromosomal abnormality: P02.008 chromosomal aneuploidy: P02.077, P03.12 Chromosomal Anomalies: P02.116 Chromosomal changes: P07.040 chromosomal integration: P02.011 Chromosomal mosaicism: P02.117 chromosomal studies: P02.223 chromosomal translocations: P02.118 chromosome 1 and 16: P04.079 chromosome 2: P01.251, P02.120, P06.199 chromosome 2p: P01.305 chromosome 2q14.1-q14.2: P01.155 chromosome 3: P02.124, P02.183 chromosome 3p: P02.127 Chromosome 4: P02.137 Chromosome 5: P04.106 chromosome 7: P02.052 Chromosome 9: P02.121, P02.152 chromosome 9p13: P06.116 chromosome 10: P01.251 Chromosome 11: P02.122 chromosome 12: P02.154, P07.005 chromosome 13: P02.184 chromosome 17: P01.194 chromosome 18 abnormalities: P09.03 Chromosome 18: P02.009 chromosome 20: P01.307 chromosome 21: P02.106, P06.089, P08.04, P08.62 chromosome 22: P02.065 chromosome 22q: P02.064, P07.030 Chromosome aberrations: P02.171, P02.224, P02.229 chromosome abnormalities: P02.162, P03.50, P04.177 chromosome abnormality: P03.35 chromosome anomaly: P02.122 chromosome breakage: P04.066 chromosome condensation: P05.121 Chromosome conformation capture: C05.1 chromosome duplication: P01.258 chromosome engineering: P02.031 chromosome imbalance: P04.060 chromosome instability: P02.109, P02.123 Chromosome rearrangement: P02.192 Chromosome rearrangements: S08.3 chromosome segregation: P07.045 chromosome X array CGH: P01.088 chromosome X: P02.102 Chromosome: P02.119, P04.050 chromosomes: EP10.18, P09.04 chronic idiopatic myelofibrosis: P04.108 chronic inflammatory disorders: P06.291 chronic lung disease in children: P06.052 Chronic lymphocytic leukemia: P04.075, P04.087 chronic myelogenous leukaemia: P04.088 chronic myeloid leukemia: P04.089, P04.090 chronic myeloproliferative disease: P04.111 Chronic Obstructive Pulmonary Disease: P07.027 Chronic sensory-motor polyneuropathy: P01.228 сhronic viral hepatitis: P06.113 chymase: P06.166 Ciliary dysfunction: P05.149 ciliary function: C12.5 Ciliopathies: S13.2 Circadian Clock: P06.177 cisplatin: P04.136, P06.232 Citrate synthase: P05.097
- Page 475 and 476: Author Index Berwouts, S.: P09.20,
- 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: Keyword Index AMACR gene: P04.182 a
- 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 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 />
cardiac: S04.1<br />
Cardi<strong>of</strong>aciocutaneous syndrome: P01.179<br />
Cardiomyopathies: C06.6<br />
cardiomyopathy: P01.048, P05.091, P08.11<br />
Cardiovascular disease: P06.044, P06.055,<br />
P06.141<br />
carrier frequency: P07.076, P07.092, P09.46<br />
carrier: P02.175<br />
carriership: P01.210<br />
cascade screening: EP10.08, P01.299<br />
cascade testing: P09.12<br />
Case-Control Studies: P06.205<br />
Case-Control study: P06.124, P06.139,<br />
P07.020<br />
cat eye: P03.52<br />
catch 22: P02.066<br />
Cat-Eye syndrome: P03.32<br />
Cathepsin B: P04.148<br />
CAT-interruptions: P07.120<br />
cattle: P01.153, P02.100<br />
caudal regression: P01.358<br />
causality: P08.12<br />
CBAVD: P09.13<br />
CBS deficiency: P01.050<br />
CCAM: P03.73<br />
CCDS: P08.27<br />
CCM: P05.019<br />
CD14: P06.285<br />
CD24: P06.279<br />
CD96: P05.020<br />
CDG Ia: P10.06<br />
CDG syndrome: P01.273<br />
CDH23: P06.210<br />
CDK4: P04.202<br />
CDK5R1: P05.021, P08.13<br />
CDKL5 gene: P01.108<br />
CDKL5: P01.106<br />
CDKN2A , BRAF: P04.139<br />
CDKN2A: EPL3.5, P04.160, P07.085,<br />
P09.43<br />
cDNA AFLP: P04.148<br />
cDNA: P06.084<br />
CEA: P04.132<br />
celiac disease: P06.045<br />
cell free DNA: P03.56<br />
cell line: P07.082<br />
cell-free DNA: P04.157<br />
cell-free fetal DNA: P03.21, P03.33, S10.2<br />
CENPJ: P06.175<br />
census: EP14.11<br />
Centrosome: P05.006, PL2.1<br />
CEP290: P05.113<br />
cerebellar atrophy: P06.059<br />
Cerebellum Hypoplasia: P01.353<br />
cerebellum: P02.109, P05.100, P06.144<br />
cerebral cortex development: P08.26<br />
cerebral cortex: S04.2<br />
cerebral infarction: P06.046<br />
Cerebral palsy: P01.100<br />
CERKL: P05.170<br />
Ceruloplasmin: P05.022<br />
cerumen: P06.038<br />
cervical cancer: P04.133, P06.047<br />
cervical dysplasia: P06.186<br />
CETP: P06.048, P06.157<br />
CF: P01.036, P07.033, P09.14, S02.3<br />
CFC: P01.184, P01.189<br />
CFTR gene mutation: P06.316<br />
CFTR gene: P01.026, P02.231<br />
CFTR mutations: P01.035<br />
CFTR: P01.028, P01.029, P01.030, P01.031,<br />
P01.036, P01.037, P01.038, P06.049,<br />
P07.033, P07.083, P08.35, S02.3<br />
CGG repeats: P01.111<br />
CGG-repeat: P05.162<br />
CGH: P02.027, P02.122, P04.060, P04.103<br />
CGH-array: P04.046<br />
CGH–Arrays: P02.087<br />
channelopathies: P05.096<br />
CHAPERONE: P10.12<br />
Charcot-Marie-Tooth (CMT) disease:<br />
P01.231<br />
Charcot-Marie-Tooth disease 1A (CMT1A):<br />
P01.238<br />
Charcot-Marie-tooth Disease: P01.228,<br />
P01.236<br />
Charcot-Marie-Tooth: P01.229, P01.230,<br />
P01.256<br />
CHARGE syndrome: P01.122<br />
CHARGE: P01.120, P01.121<br />
CHD: P06.050<br />
CHD7: P01.120, P01.121<br />
Chikungunya virus: P08.14<br />
child follow-up: EP14.19<br />
childhood genetic disorders: P09.02<br />
childhood leukemia: P04.086<br />
children: EPL2.1, P01.272, P01.347,<br />
P06.062, P06.140<br />
chimaerin: P04.134<br />
chimeric status: P04.094<br />
chimerism: P04.135, P04.152<br />
chip: P08.56<br />
CHNRNA4: P01.257<br />
Choice <strong>of</strong> spouse: P07.023<br />
Choices: EPL4.3<br />
Choix du conjoint: P07.024<br />
cholecystokinin-tetrapeptide (CCK-4):<br />
P06.051<br />
cholestryl ester transfer protein: P07.025<br />
chondrodysplasia: P01.124, P01.153<br />
chorion villi: P03.51<br />
choroidal coloboma: P02.136<br />
Chromatin immunoprecipitation: P08.31<br />
chromatin remodelling: C07.3<br />
chromatography: P01.004<br />
chromosoma: P02.113<br />
Chromosomal aberration: P02.022, P02.146<br />
chromosomal aberrations: P02.114, P02.115,<br />
P03.38, P07.026<br />
chromosomal abnormalities: P02.168,<br />
P02.170, P02.182, P03.30, P03.34, P04.075<br />
chromosomal abnormality: P02.008<br />
chromosomal aneuploidy: P02.077, P03.12<br />
Chromosomal Anomalies: P02.116<br />
Chromosomal changes: P07.040<br />
chromosomal integration: P02.011<br />
Chromosomal mosaicism: P02.117<br />
chromosomal studies: P02.223<br />
chromosomal translocations: P02.118<br />
chromosome 1 and 16: P04.079<br />
chromosome 2: P01.251, P02.120, P06.199<br />
chromosome 2p: P01.305<br />
chromosome 2q14.1-q14.2: P01.155<br />
chromosome 3: P02.124, P02.183<br />
chromosome 3p: P02.127<br />
Chromosome 4: P02.137<br />
Chromosome 5: P04.106<br />
chromosome 7: P02.052<br />
Chromosome 9: P02.121, P02.152<br />
chromosome 9p13: P06.116<br />
chromosome 10: P01.251<br />
Chromosome 11: P02.122<br />
chromosome 12: P02.154, P07.005<br />
chromosome 13: P02.184<br />
chromosome 17: P01.194<br />
chromosome 18 abnormalities: P09.03<br />
Chromosome 18: P02.009<br />
chromosome 20: P01.307<br />
chromosome 21: P02.106, P06.089, P08.04,<br />
P08.62<br />
chromosome 22: P02.065<br />
chromosome 22q: P02.064, P07.030<br />
Chromosome aberrations: P02.171, P02.224,<br />
P02.229<br />
chromosome abnormalities: P02.162,<br />
P03.50, P04.177<br />
chromosome abnormality: P03.35<br />
chromosome anomaly: P02.122<br />
chromosome breakage: P04.066<br />
chromosome condensation: P05.121<br />
Chromosome conformation capture: C05.1<br />
chromosome duplication: P01.258<br />
chromosome engineering: P02.031<br />
chromosome imbalance: P04.060<br />
chromosome instability: P02.109, P02.123<br />
Chromosome rearrangement: P02.192<br />
Chromosome rearrangements: S08.3<br />
chromosome segregation: P07.045<br />
chromosome X array CGH: P01.088<br />
chromosome X: P02.102<br />
Chromosome: P02.119, P04.050<br />
chromosomes: EP10.18, P09.04<br />
chronic idiopatic myel<strong>of</strong>ibrosis: P04.108<br />
chronic inflammatory disorders: P06.291<br />
chronic lung disease in children: P06.052<br />
Chronic lymphocytic leukemia: P04.075,<br />
P04.087<br />
chronic myelogenous leukaemia: P04.088<br />
chronic myeloid leukemia: P04.089, P04.090<br />
chronic myeloproliferative disease: P04.111<br />
Chronic Obstructive Pulmonary Disease:<br />
P07.027<br />
Chronic sensory-motor polyneuropathy:<br />
P01.228<br />
сhronic viral hepatitis: P06.113<br />
chymase: P06.166<br />
Ciliary dysfunction: P05.149<br />
ciliary function: C12.5<br />
Ciliopathies: S13.2<br />
Circadian Clock: P06.177<br />
cisplatin: P04.136, P06.232<br />
Citrate synthase: P05.097
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