2008 Barcelona - European Society of Human Genetics

More documents

Recommendations

Info

Table of Contents EsHG spoken Presentations Plenary Lectures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PL1 .1–PL4 .1 . . . . . . . . . . 2 Concurrent Symposia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . S01 .1–S15 .3 . . . . . . . . . . 6 Concurrent Sessions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C01 .1–C15 .5 . . . . . . . . . 16 EsHG Posters P01 . Clinical genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P01 .001–P01 .370 . . . . . 38 P02 . Cytogenetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P02 .001–P02 .242 . . . . 120 P03 . Prenatal diagnosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P03 .01–P03 .77 . . . . . . . 174 P04 . Cancer genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P04 .001–P04 .207 . . . . 191 P05 . Molecular and biochemical basis of disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P05 .001–P05 .216 . . . . 238 P06 . Genetic analysis, linkage, and association . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P06 .001–P06 .326 . . . . 288 P07 . Normal variation, population genetics, genetic epidemiology . . . . . . . . . . . . . . . . . P07 .001–P07 .139 . . . . 363 P08 . Genomics, technology, bioinformatics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P08 .01–P08 .87 . . . . . . 395 P09 . Genetic counselling, education, genetic services, and public policy . . . . . . . . . . . . P09 .01–P09 .73 . . . . . . 414 P10 . Therapy for genetic disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P10 .01–P10 .28 . . . . . . 430 EmPAG spoken Presentations Plenary Lectures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPL1 .1–EPL6 .5 . . . . . . 437 Workshops . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EW1 .1–EW4 .1 . . . . . . . 444 EmPAG Posters EP01 . Reproductive issues in genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EP01 .01–EP01 .11 . . . . 445 EP02 . Genetic risk and testing: impact on men . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EP02 .1 . . . . . . . . . . . . . 447 EP03 . Genetic risk and testing: carriers of x-linked conditions . . . . . . . . . . . . . . . . . . . . EP03 .1 . . . . . . . . . . . . . 447 EP04. Genetic conditions: impact on significant others . . . . . . . . . . . . . . . . . . . . . . . . . . EP04 .1 . . . . . . . . . . . . . 447 EP05 . Access to genetic services (challenges in Europe) . . . . . . . . . . . . . . . . . . . . . . . . EP05 .1–EP05 .4 . . . . . . 448 EP06 . Lay beliefs and public understanding of genetics . . . . . . . . . . . . . . . . . . . . . . . . . EP06 .1–EP06 .4 . . . . . . 448 EP07 . Disclosure of test results (professionals/patients/families/third parties) . . . . . . . . EP07 .1–EP07 .4 . . . . . . 449 EP08 . Predictive testing: process and impact . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EP08 .1–EP08 .8 . . . . . . 450 EP09 . Predisposition to common diseases: genetic testing and preventive behaviour . EP09 .1–EP09 .2 . . . . . . 452 EP10 . Genetic counselling: communicating genetic information . . . . . . . . . . . . . . . . . . . EP10 .01–EP10 .24 . . . . 453 EP11 . Strategies to facilitate decision making in genetics . . . . . . . . . . . . . . . . . . . . . . . . EP11 .1–EP11 .2 . . . . . . 458 EP12 . Family dynamics and genetic conditions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EP12 .1–EP12 .3 . . . . . . 459 EP13 . Living with genetic disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EP13 .1–EP13 .8 . . . . . . 459 EP14 . Other relevant psychological and social topics in genetics . . . . . . . . . . . . . . . . . EP14 .01–EP14 .23 . . . . 461 Author Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 467 Keyword Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 521
Plenary Lectures ESHG PLENARY LECTURES PL1.1 Understanding the Influence of Conditional Host-Karyomemicrobiome interactions in Health and Disease J. K. Nicholson; Department of Biomolecular Medicine, Imperial College, London, United Kingdom. Post-genomic technologies are being widely applied to improve the understanding of adverse drug reactions and the molecular basis of human disease . Metabonomics is an approach that enables multivariate profiling of the integrated metabolic responses of complex systems to patho-physiological stress, and so involves understanding the way the whole metabolic regulatory system varies with interventions thus providing complementary information to genomics and proteomics . Mammalian biochemistry is strongly influenced by the host karyome (genome) and gut microbiome symbionts that can alter drug metabolism and toxicity; the study of these transgenomic interactions is termed “global systems biology” . Because these interactions are mediated by a large number of co-metabolic processes the system state integrity can be evaluated via metabolic profiling of biofluids. With the growing desire to apply systems biology tools to understanding human disease processes at the population level where massive cohorts need to be investigated, it is necessary to use analytical and statistical methods that report on whole system state non-invasively, hence the attraction of biofuid analyses described here . NMR spectroscopy and chromatographic linked MS methods have been applied to characterize and quantify a wide range of metabolites in biological fluids and tissues to explore the biochemical consequences of drug-induced toxicity and human disease . In disease or toxicity states metabolic profiles and NMR and mass spectra are changed characteristically in different toxicity or disease conditions according to the exact site and mechanism of the lesion . The use of chemometrics allows interrogation of spectroscopic data and can give direct diagnostic information and aid the detection of novel biomarkers of disease and the integration of metabolic data with other omics sets . Such diagnostics can be extremely sensitive for the detection of low level damage in a variety of organ systems and is potentially a powerful new adjunct to conventional procedures for disease assessment and can help explain environment-gene interactions that give rise to idiosyncratic toxicity of drugs in man . Examples of the application of metabonomics to personalised healthcare (1) and population screening to detect new “Metabolome-Wide Associations” with disease risk factors (2) . 1 . Clayton, T .A . Nicholson, J .K . et al (2006) Pharmaco-metabonomic phenotyping and personalised drug treatment . Nature 440 (20) 1073- 1077 . 2 . Holmes, E . Nicholson, J .K . et al (2008) Human Metabolic Phenotype Diversity and its Association with Diet and Blood Pressure . Nature (in press) . PL1.2 cell competition, apoptosis and tumour progression in Drosophila G. Morata; Centro de Biologia Molecular Severo Ochoa, CSIC-UAM - Campus de Cantoblanco, Madrid, Spain. Larvae homozygous for mutations at the tumour suppressor genes of Drosophila lethal giant larvae (lgl), scribble (scribb) or disc large (dlg) develop extensive neoplastic tumours that affect principally the central nervous system and the imaginal discs . Thus the lack of any of these products is sufficient to transform normal imaginal cells into tumorous cells . However, imaginal cells mutant for any of these genes are unable to develop a tumour if they are surrounded by non-tumour cells . We have been studying the behaviour of clones of lgl mutant cells in the wing disc to study the interactions between tumour and nontumour cells. We find that as a rule lgl clones are eliminated from the wing disc by a process akin to cell competition: they enter apoptosis mediated by the JNK pathway and the interactions leading to the disappearance of the mutant cells take place at the border of the clones . We have also found that when these cells contain an additional factor conferring a high proliferation rate, the lgl mutant cells are transformed into “supercompetitors”, which are able to eliminate surrounding nontumour cells and give rise to invasive neoplastic tumours that colonise the entire disc PL1.3 Human evolution: palaeontology and ancient DNA J. L. Arzuaga; Centro de evolucion y comportamientos humanos, Instituto de salud de la Universidad Carlos III, Madrid, Spain. PL2.1 mutations in the pericentrin (PcNt) gene cause primordial dwarfism A. Rauch 1 , C. T. Thiel 1 , U. Wick 1 , Y. J. Crow 2 , D. Schindler 3 , A. Ekici 1 , C. Zweier 1 , A. J. van Essen 4 , T. O. Goecke 5 , L. Al-Gazali 6 , K. H. Chrzanowska 7 , H. G. Brunner 8 , K. Becker 9 , C. J. Curry 10 , B. Dallapiccola 11 , K. Devriendt 12 , E. Kinning 13 , A. Megarbane 14 , P. Meinecke 15 , R. K. Semple 16 , A. Toutain 17 , R. Hennekam 18 , R. Trembath 19 , H. G. Dörr 20 , A. Reis 1 ; 1 Insitute of Human Genetics, Erlangen, Germany, 2 Leeds Institute of Molecular Medicine, Leeds, United Kingdom, 3 Insitute of Human Genetics, Würzburg, Germany, 4 Department of Genetics, Groningen, The Netherlands, 5 Insitute of Human Genetics, Düsseldorf, Germany, 6 Faculty of Medicine, Al-Ain, United Arab Emirates, 7 Department of Medical Genetics, Erlangen, Poland, 8 Department of Human Genetics, Nijmegen, The Netherlands, 9 North Wales Clinical Genetics Service, Rhyl, United Kingdom, 10 Genetic Medicine Central California, San Francisco, CA, United States, 11 IRCCS-CSS, Rome, Italy, 12 Centre for Human-Genetics, Leuven, Belgium, 13 Department of Clinical Genetics, Leicester, United Kingdom, 14 Unité de Génétique Médicale, Beirut, Lebanon, 15 Abteilung für Medizinische Genetik, Hamburg, Germany, 16 Department of Clinical Biochemistry, Cambridge, United Kingdom, 17 Department of Genetics, Tours, France, 18 Department of Clinical Genetics, London, United Kingdom, 19 Department of Medical and Molecular Genetics, London, United Kingdom, 20 Department of Pediatrics and Adolescent Medicine, Erlangen, Germany. The growth of an individual grossly depends on regulation of cell size and cell division and dysfunction of the pathways involved not only results in somatic undergrowth but contributes to a wide variety of pathological conditions . Using positional cloning, we found in a total of 25 patients that biallelic loss-of-function mutations in the pericentrin (PCNT) gene cause microcephalic osteodysplastic primordial dwarfism type Majewski II (MOPD II, MIM 210720) . Adults with this rare inherited condition belong to the shortest of the short having a height of about 100 centimeters and a brain size comparable to that of a three-month old baby, but are of near-normal intelligence . Truncal obesity, type 2 diabetes and a high risk of stroke have been noted in older individuals with MOPD II . PCNT is known to mediate nucleation of microtubules by anchoring the γ-tubulin ring complex, thus initiating the assembly of the mitotic spindle apparatus . We show that PCNT mutations cause absence of the protein resulting in disorganized mitotic spindles, premature sister chromatid separation and missegregation of chromosomes in patient cells. Our findings thus characterize MOPD II as a distinct clinical entity linking a key protein of the centrosome to dwarfism and a high risk of diabetes and stroke . Similarities between MOPD II individuals and the Late Pleistocene hominid fossils from the island of Flores, Indonesia, also known as “hobbits”, suggest that these do not represent a diminutive, smallbrained new species, Homo floresiensis, but are pathological modern humans . Rauch et al . 2008, Science Feb 8, 319:816-9 . PL2.2 meta-analysis of genome-wide association data and large-scale replication identifies several additional susceptibility loci for type 2 diabetes E. Zeggini 1 , R. Saxena 2 , L. J. Scott 3 , B. F. Voight 2 , for the DIAGRAM Consortium; 1 University of Oxford, Oxford, United Kingdom, 2 Harvard and Massachusetts Institute of Technology, Cambridge, MA, United States, 3 University of Michigan, Ann Arbor, MI, United States. Genome-wide association (GWA) studies have identified multiple new loci at which common variants modestly but reproducibly contribute to risk of type 2 diabetes (T2D) . However, established variants, common and rare, explain only a small proportion of the heritability of T2D . To increase the power to discover alleles of modest effect, we performed
Page 1 and 2: Volume 16 Supplement 2 May 2008 www
Page 3: Committees - Board - Organisation E
Page 7 and 8: Plenary Lectures 6 Medical Genetics
Page 9 and 10: Concurrent Symposia ESHG CONCURRENT
Page 11 and 12: Concurrent Symposia s04.1 microRNA
Page 13 and 14: Concurrent Symposia 0 use of positi
Page 15 and 16: Concurrent Symposia s10.2 Non-invas
Page 17 and 18: Concurrent Symposia s13.1 Dysregula
Page 19 and 20: Concurrent Sessions ESHG CONCURRENT
Page 21 and 22: Concurrent Sessions receptor than t
Page 23 and 24: Concurrent Sessions an autosomal re
Page 25 and 26: Concurrent Sessions reporting, and
Page 27 and 28: Concurrent Sessions c06.3 clinical
Page 29 and 30: Concurrent Sessions c07.5 VLDLR (ve
Page 31 and 32: Concurrent Sessions 317,503 single
Page 33 and 34: Concurrent Sessions MYCN , E2F3 and
Page 35 and 36: Concurrent Sessions limb or thoraci
Page 37 and 38: Concurrent Sessions APC, BRCA1 and
Page 39 and 40: Concurrent Sessions identified 215
Page 41 and 42: Clinical genetics ESHG POSTERS P01.
Page 43 and 44: Clinical genetics In Cyprus, the mu
Page 45 and 46: Clinical genetics gene . Most of th
Page 47 and 48: Clinical genetics are indeed more d
Page 49 and 50: Clinical genetics P01.037 Validatin
Page 51 and 52: Clinical genetics 17 PKU patients f
Page 53 and 54: Clinical genetics L185R missense mu
Page 55 and 56:
Clinical genetics P01.064 isolation
Page 57 and 58:
Clinical genetics leles- is in acco
Page 59 and 60:
Clinical genetics Sapienza” Unive
Page 61 and 62:
Clinical genetics P01.090 Fragile X
Page 63 and 64:
Clinical genetics P01.099 Deletion
Page 65 and 66:
Clinical genetics other CNPs, the 1
Page 67 and 68:
Clinical genetics FRAXA is the most
Page 69 and 70:
Clinical genetics and PT 19 cm. Nec
Page 71 and 72:
Clinical genetics P01.133 White mat
Page 73 and 74:
Clinical genetics curved radii, uln
Page 75 and 76:
Clinical genetics ered at the 33 rd
Page 77 and 78:
Clinical genetics P01.160 character
Page 79 and 80:
Clinical genetics P01.169 A variant
Page 81 and 82:
Clinical genetics matological anoma
Page 83 and 84:
Clinical genetics sition was identi
Page 85 and 86:
Clinical genetics women ranges by p
Page 87 and 88:
Clinical genetics MD2I or MDC1C sho
Page 89 and 90:
Clinical genetics P01.215 the ctG r
Page 91 and 92:
Clinical genetics pansion . Longer
Page 93 and 94:
Clinical genetics frequency of this
Page 95 and 96:
Clinical genetics mana, CUCS, Unive
Page 97 and 98:
Clinical genetics P01.253 The first
Page 99 and 100:
Clinical genetics consistent findin
Page 101 and 102:
Clinical genetics P01.270 Genetic s
Page 103 and 104:
Clinical genetics P01.279 Dilated c
Page 105 and 106:
Clinical genetics objectives of our
Page 107 and 108:
Clinical genetics P01.298 Hyperphos
Page 109 and 110:
Clinical genetics P01.307 maternal
Page 111 and 112:
Clinical genetics CM in monozygotic
Page 113 and 114:
Clinical genetics P01.325 mowat-Wil
Page 115 and 116:
Clinical genetics P01.334 Identific
Page 117 and 118:
Clinical genetics birth defects is
Page 119 and 120:
Clinical genetics The cause of this
Page 121 and 122:
Clinical genetics were assumed to b
Page 123 and 124:
Cytogenetics P01.369 three novel mu
Page 125 and 126:
Cytogenetics P02.008 Reconfirmation
Page 127 and 128:
Cytogenetics mosomal rearrangement
Page 129 and 130:
Cytogenetics otide-based array plat
Page 131 and 132:
Cytogenetics rangements ranged betw
Page 133 and 134:
Cytogenetics 593 kb microdeletion a
Page 135 and 136:
Cytogenetics We herewith report two
Page 137 and 138:
Cytogenetics cise etiological diagn
Page 139 and 140:
Cytogenetics deleted region contain
Page 141 and 142:
Cytogenetics P02.078 mental Retarda
Page 143 and 144:
Cytogenetics present on the right s
Page 145 and 146:
Cytogenetics P02.096 Delineation of
Page 147 and 148:
Cytogenetics P02.106 Aneuploidy of
Page 149 and 150:
Cytogenetics biologic (cytogenetic)
Page 151 and 152:
Cytogenetics - 60 .0) per 100 cells
Page 153 and 154:
Cytogenetics netic map of deleted r
Page 155 and 156:
Cytogenetics phic at delivery . Min
Page 157 and 158:
Cytogenetics (according to question
Page 159 and 160:
Cytogenetics P02.160 characterizati
Page 161 and 162:
Cytogenetics DISCUSSION: In this st
Page 163 and 164:
Cytogenetics from peripheral blood
Page 165 and 166:
Cytogenetics did not influence upon
Page 167 and 168:
Cytogenetics sented with ambiguous
Page 169 and 170:
Cytogenetics normalities, cytogenet
Page 171 and 172:
Cytogenetics P02.215 cytogenetic an
Page 173 and 174:
Cytogenetics matozoa from carriers
Page 175 and 176:
Cytogenetics of spermatogenesis in
Page 177 and 178:
Prenental diagnostics Genotype Infe
Page 179 and 180:
Prenental diagnostics T21 samples s
Page 181 and 182:
Prenental diagnostics be withdrawn
Page 183 and 184:
Prenental diagnostics The Consortiu
Page 185 and 186:
Prenental diagnostics Here we descr
Page 187 and 188:
Prenental diagnostics service deliv
Page 189 and 190:
Prenental diagnostics cal Universit
Page 191 and 192:
Prenental diagnostics nuchal transl
Page 193 and 194:
Prenental diagnostics etal anomalie
Page 195 and 196:
Cancer genetics forms . The typical
Page 197 and 198:
Cancer genetics P04.012 A novel PtE
Page 199 and 200:
Cancer genetics P04.021 comparative
Page 201 and 202:
Cancer genetics P04.029 characteris
Page 203 and 204:
Cancer genetics mutations detected
Page 205 and 206:
Cancer genetics deleterious mutatio
Page 207 and 208:
Cancer genetics Research Centre, Mo
Page 209 and 210:
Cancer genetics P04.064 Dissection
Page 211 and 212:
Cancer genetics P04.072 Acute promy
Page 213 and 214:
Cancer genetics P04.081 Discordance
Page 215 and 216:
Cancer genetics ity of the malignan
Page 217 and 218:
Cancer genetics Method: mRNA level
Page 219 and 220:
Cancer genetics preparations were o
Page 221 and 222:
Cancer genetics ries.The identifica
Page 223 and 224:
Cancer genetics P04.127 FGFR3 mutat
Page 225 and 226:
Cancer genetics Our experience show
Page 227 and 228:
Cancer genetics way consists of thr
Page 229 and 230:
Cancer genetics and/or prognostic m
Page 231 and 232:
Cancer genetics P04.162 HER-2/neu A
Page 233 and 234:
Cancer genetics controls, by hetero
Page 235 and 236:
Cancer genetics P04.179 molecular g
Page 237 and 238:
Cancer genetics there are no change
Page 239 and 240:
Cancer genetics P04.197 mutation in
Page 241 and 242:
Molecular and biochemical basis of
Page 243 and 244:
Page 245 and 246:
Page 247 and 248:
Page 249 and 250:
Page 251 and 252:
Page 253 and 254:
Page 255 and 256:
Page 257 and 258:
Page 259 and 260:
Page 261 and 262:
Page 263 and 264:
Page 265 and 266:
Page 267 and 268:
Page 269 and 270:
Page 271 and 272:
Page 273 and 274:
Page 275 and 276:
Page 277 and 278:
Page 279 and 280:
Page 281 and 282:
Page 283 and 284:
Page 285 and 286:
Page 287 and 288:
Page 289 and 290:
Page 291 and 292:
Genetic analysis, linkage, and asso
Page 293 and 294:
Page 295 and 296:
Page 297 and 298:
Page 299 and 300:
Page 301 and 302:
Page 303 and 304:
Page 305 and 306:
Page 307 and 308:
Page 309 and 310:
Page 311 and 312:
Page 313 and 314:
Page 315 and 316:
Page 317 and 318:
Page 319 and 320:
Page 321 and 322:
Page 323 and 324:
Page 325 and 326:
Page 327 and 328:
Page 329 and 330:
Page 331 and 332:
Page 333 and 334:
Page 335 and 336:
Page 337 and 338:
Page 339 and 340:
Page 341 and 342:
Page 343 and 344:
Page 345 and 346:
Page 347 and 348:
Page 349 and 350:
Page 351 and 352:
Page 353 and 354:
Page 355 and 356:
Page 357 and 358:
Page 359 and 360:
Page 361 and 362:
Page 363 and 364:
Page 365 and 366:
Page 367 and 368:
Normal variation, population geneti
Page 369 and 370:
Page 371 and 372:
Page 373 and 374:
Page 375 and 376:
Page 377 and 378:
Page 379 and 380:
Page 381 and 382:
Page 383 and 384:
Page 385 and 386:
Page 387 and 388:
Page 389 and 390:
Page 391 and 392:
Page 393 and 394:
Page 395 and 396:
Page 397 and 398:
Page 399 and 400:
Genomics, technology, bioinformatic
Page 401 and 402:
Page 403 and 404:
Page 405 and 406:
Page 407 and 408:
Page 409 and 410:
Page 411 and 412:
Page 413 and 414:
Page 415 and 416:
Page 417 and 418:
Genetic counselling, education, gen
Page 419 and 420:
Page 421 and 422:
Page 423 and 424:
Page 425 and 426:
Page 427 and 428:
Page 429 and 430:
Page 431 and 432:
Page 433 and 434:
Therapy for genetic disease 0 proce
Page 435 and 436:
Therapy for genetic disease The die
Page 437 and 438:
Therapy for genetic disease Science
Page 439 and 440:
Therapy for genetic disease P10.26
Page 441 and 442:
EMPAG Plenary Lectures and perceive
Page 443 and 444:
EMPAG Plenary Lectures 0 mutation i
Page 445 and 446:
EMPAG Plenary Lectures EPL5.2 the m
Page 447 and 448:
EMPAG Workshops Methods The matrix
Page 449 and 450:
EMPAG Posters their own home . It e
Page 451 and 452:
EMPAG Posters with resultant specia
Page 453 and 454:
EMPAG Posters 0 the family, relativ
Page 455 and 456:
EMPAG Posters ties raised by IBMPFD
Page 457 and 458:
EMPAG Posters ics, Nicosia, Cyprus,
Page 459 and 460:
EMPAG Posters In collaboration with
Page 461 and 462:
EMPAG Posters most patients’ psyc
Page 463 and 464:
EMPAG Posters 0 EP13.2 Decision mak
Page 465 and 466:
EMPAG Posters Objective . GeneBanC
Page 467 and 468:
EMPAG Posters EP14.12 the role of t
Page 469 and 470:
EMPAG Posters patient (35% vs . 26%
Page 471 and 472:
Author Index Al-Owain, M.: P06.160
Page 473 and 474:
Author Index 0 Baka, M.: P04.082 Ba
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 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 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
show all

2008 Barcelona - European Society of Human Genetics

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?