2009 Vienna - European Society of Human Genetics

More documents

Recommendations

Info

Molecular basis of Mendelian disorders patients, but no controls, and is under further investigation. Four patients carried de-novo WT1 mutations, 3 had previously characterized mutations (1 with IVS9+5G>A, and 2 with R394W,) and the fourth had a novel mutation R366H, predicted to be pathogenic in silico. Karyotype analysis showed XX in 3 patients, consistent with the female phenotype, but one (with R394W), was XY and had complete gonadal dysgenesis. Thus 7/19 sporadic SRNS patients, (but no familial cases) had NPHS2 or WT1 mutations, indicating that molecular investigation of these genes is useful to support definitive diagnosis and management of pediatric SRNS.. P12.120 Genotype-phenotype correlations in patients with hereditary neurodegenerative diseases N. V. Hryshchenko1 , E. I. Patscun2 , L. A. Livshits1 ; 1 2 Institute of Molecular Biology and Genetics, Kiev, Ukraine, Regional Clinical Hospital, Uzhgorod, Ukraine. Neurodegenerative diseases (ND) are characterized by progressive nervous system (NS) dysfunction, associated with mutation in genes leads to atrophy of the affected central or peripheral NS structures. To summarize our experience in the field of neurogenetics we provide the investigation of mutations associated with various NS dysfunction in patients with Huntington’s disease (HD) and Charcot-Marie-Tooth (CMT) disease. HD is a common disorder of central NS caused by expansion of CAGrepeats in the IT15. CMT is a heterogeneous group of peripheral NS diseases with more than 20 involved loci. The most common types of CMT are due to mutations in PMP22 and Cx32. Analysis of CAG-, CCG- and del2642 of IT15 gene polymorphisms has been performed in patients with HD. We have provided the screening of PMP22 duplications/deletion and Cx32 point mutations in CMT patients. 35 HD-probands had expanded allele of IT15 (39- 52 CAG-repeats). The significant differences in sex-determined instability of CAG-repeats inheritance have been revealed. The association between del2642 and the age of HD onset has been analyzed. PMP22-duplications were found in 21 CMT-families. We also detected the heterozygote PMP22 gene deletion in two patients with specific HNPP-phenotype. Mutation screening of Cx32 revealed 2 brothers with Arg22Gln mutation.Our data showed the association between different types of IT15, PMP22 and Cx32 genes mutations and specific abnormalities of the NS. Obtained data would be useful for better understanding of ND pathogenesis and for providing new individualized therapy for curing of neurological disorders. P12.121 Identification and characterization of mutations causing Niemann-Pick disease types A/B in spanish patients L. Rodríguez-Pascau 1 , L. Gort 2 , E. H. Schuchman 3 , A. Chabás 2 , L. Vilageliu 1 , D. Grinberg 1 ; 1 Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain, 2 Institut de Bioquímica Clínica, Hospital Clínic, Corporació Sanitària Clínic, CIBERER, Barcelona, Spain, 3 Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY, United States. Niemann-Pick disease type A/B (NPD A/B) is an autosomal recessive lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency due to mutations in the SMPD1 gene. Type A NPD is the severe neurological form whereas type B NPD patients have no neurological manifestations. In this work, we present a molecular analysis of 19 Spanish patients and 2 from Maghreb, 8 with type A and 13 with type B NPD. All mutant SMPD1 alleles were identified, including 17 different mutations, 10 of which were novel: c.503G>A (p.W168X), c.939C>A (p.Y313X), c. 1100A>G (p.Y367C), c.1400A>C (p.Y467S), c.1445C>A (p.A482E), c.1456A>G (p.T486A), c.1159delC (p.R387VfsX7), c.1169_1171delTCT (p.F390del), c.1257+4_1257+7delAGGG, and c.1774_1776delACT (p.T592del). The only frequent mutations in the 21 NPD patients were c.1823_1825delGCC (p.R608del) (38%) and c.1445C>A (p.A482E) (9%). For most of the mutations a good correlation between genotype and phenotype could be established and, in particular, the p.R608del-type B association was confirmed. Six of the mutations found in Spanish patients, and two other mutations for comparison, were expressed in vitro to establish their residual enzy- matic activities. All mutant alleles were confirmed to be disease-causing due to their low enzyme activity, although western blot analyses showed that a normal amount of protein was synthesized. The mutation c.1257+4_1257+7delAGGG, which affects a non-canonical donor splice site, was analysed at the RNA level. Only aberrant mRNAs, corresponding to previously reported minor SMPD1 transcripts, which do not code for functional enzymes, were produced by this allele. This study is the first exhaustive mutational analysis of Spanish Niemann- Pick A/B disease patients. P12.122 the Evaluation of clinical selection criteria in NsHL molecular Results C. Radaelli 1 , P. Castorina 2,3 , F. Lalatta 2 , U. Ambrosetti 3 , A. Cesarani 3 , A. Murri 4 , D. Cuda 4 , F. Sironi 1 , L. Trotta 1 , D. A. Coviello 1 , P. Primignani 1 ; 1 Medical Genetics Laboratory - Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy, 2 Medical Genetic Service - Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy, 3 ENT Audiology Department - Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena., Milan, Italy, 4 ENT Audiology Department - Ospedale “Guglielmo da Saliceto”, Piacenza, Italy. Since January 2001 we have studied more than 1000 subjects among deaf patients, family members and deaf/carrier partners. The majority of our patient’s population has been recruited through the Genetic Service of the O.R.L. Department of our Hospital in Milan since 2001 and through the O.R.L. Service in Piacenza starting from 2004. The 658 subjects afferent to our Hospital were affected by neurosensorial deafness with various degrees (from mild to profound) of hearing loss (HL), while the 131 patients from Piacenza Hospital had a HL degree ranging from severe to profound. All patients were analysed for mutations of the entire Cx26 gene (GJB2), and for the Δ(GJB6-D13S1830) deletion. The analysis of the deafness-causing A1555G substitution in mitochondrial (mt)DNA was carried out in our cohort of patients while, usually, in the second group this analysis is not requested. In order to compare the two different criteria of clinical selection and the concerning molecular results, we performed the mtDNA analysis in all the subjects with only one or without Cx26 mutations. In the first group we found a lower percentage of positive Cx26/Cx30 cases in comparison to the second group (25.8% vs. 53.4%), but a higher percentage of dominant mutations (4.7% vs. 1.5%); the mtA1555G was found only in the first group of the affected patients (3%). We conclude that clinical selection based on the severity of HL is quite relevant to obtain high percentage of Cx26 positive, but may allow the missing of uncommon GJB2 genotypes and mt mutations. P12.123 Frequency of 35delG mutations in cochlear implant recipients . M. Falah1 , M. Houshmand2 , S. Akbaroghli3 , S. Seyedhassani2 , M. Farhadi1 ; 1Department and research center of ENT and Head & neck surgery Iran University of Medical Sciences., Tehran, Islamic Republic of Iran, 2National Institute for Genetic Engineering and Biotechnology., Tehran, Islamic Republic of Iran, 3Deputy for cultural affairs and prevention of Iran Welfare Organization, Tehran, Islamic Republic of Iran. Objective: Hearing impairment is the most common sensory disorder, present in 1 of every 500 newborns. Nonsyndromic sensorineural hearing loss(NSHL) is inherited in a predominantly autosomal recessive manner in up to 70% of cases. It is also an extremely heterogeneous trait. The gene more often involved is GJB2, encoding the protein Connexin 26. In most populations a single mutation, 35delG, accounts for most cases of NSHI . Methods: 90 patients receiving cochlear implants were ascertained through research centre of ENT & head and neck surgery .After genetic counseling for them DNA isolated from the peripheral blood, all patients were molecularly evaluated for the presence of the 35delG mutation by ARMS /PCR. Result: We investigated 90 patients , 44.9% male and 55.1% female , that 90% of them were < 10 years old that receiving cochlear implant . 70.8% of these patients were born on consanguine family and 12.4% of them were syndromic hearing loss. Among these patients 86.5% were normal, 10.1 % homozygote and 3.4% heterozygote for 35delG mutation.
Molecular basis of Mendelian disorders Conclusion: The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases.In our study, there was a significant relationship between consanguineous marriage in our evaluated group and express of NSHl (PV#0/00 and O.R= 3.43). but there was not any significant relationship between inheritance pattern and consanguineous marriage with 35delG mutation. These data can help genetic counselor and otolaryngologist for setting priority in evaluation, prevention and even treatment in these patients. P12.124 De novo mutations in stXBP1 cause early infantile epileptic encephalopathy N. Matsumoto, H. Saitsu; Yokohama City University, Yokohama, Japan. Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy. Using array-based comparative genomic hybridization (aCGH), we found a de novo 2.0-Mb microdeletion at 9q33.3-q34.11 in a female EIEE patient. Mutation analysis of candidate genes mapped to the deletion revealed that four unrelated EIEE patients had heterozygous missense mutations in syntaxin binding protein 1 (STXBP1). STXBP1 (also known as MUNC18-1) is an evolutionally conserved neuronal Sec1/Munc-18 (SM) protein, which plays an essential role for synaptic vesicle release in multiple species. Circular dichroism (CD) melting experiments revealed that a mutant protein was significantly thermolabile compared to the wild type. Furthermore, binding of the mutant protein to syntaxin was impaired. These findings suggest that haploinsufficiency of STXBP1 causes EIEE. Following doctors are highly appreciated: Drs. Mitsuhiro Kato (Yamagata University School of Medicine), Hitoshi Osaka (Kanagawa Children’s Medical Center), Jun Tohyama (Nishi-Niigata Chuo National Hospital), Katsuhisa Uruno (NHO Yamagata National Hospital), Satoko Kumada (Tokyo Metropolitan Neurological Hospital). P12.125 New mutations in the CXORF5 (OFD1) gene and the influence of X-inactivation on the phenotype in patients with type i Orofaciodigital syndrome I. J. Bisschoff, C. Zeschnigk, G. Wolff, D. J. Morris-Rosendahl; Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany. Thirteen forms of Orofaciodigital Syndrome (OFDS) have been described, however CXORF5 (Xp22.3-p22.2) is currently the only known causative gene, in which mutations cause OFD type I (OFD1). OFD1 is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. There may be central nervous system involvement in as many as 40% of cases, and polycystic kidney disease seems to be specific to OFD1. We have performed mutation analysis via DNA sequencing in 27 sporadic and two familial cases of suspected OFD1. Fourteen mutations, nine of which have not previously been described, were found in the index patients. Five of the mutations (36%) are predicted to affect splicing. Mental retardation has previously been associated with mutations in CXORF5 exons 3, 8, 9, 13 and 16. We have found a new splice mutation in intron 1, c.13-10T>A, in a mother and her two daughters, with greatly diverging phenotypes, especially with regard to cognitive ability. X-inactivation studies in lymphocytes showed preferential inactivation of the mutation allele in the mildly affected mother (normal intelligence) and relatively mildly affected daughter, whereas both alleles appeared to be equally active in the severely retarded daughter. Reverse transcription PCR and sequencing in lymphocytes revealed the markedly increased presence of an extra, larger transcript which includes intron 1, in the most severely affected daughter. Our results suggest that the pattern of X inactivation has a greater effect on the brain phenotype than the type of mutation. P12.126 mutational spectrum of the cOL1A1 and cOL1A2 genes in spanish patients with Osteogenesis imperfecta J. Garcia-Planells, M. Molero, M. Lazaro, M. Torres-Puente, M. Perez-Alonso; Medical Genetics Unit. Sistemas Genomicos, Valencia, Spain. Osteogenesis Imperfecta (OI) is a group of disorders characterized by bones that break easily. Clinical features are very heterogeneous and up to seven clinical types have been described. OI is predominantly inherited in an autosomal dominant manner although recessive forms have been described. Dominant forms are caused by mutations in either COL1A1 or COL1A2 genes, located on 17q21-22 and 7q22 chromosomal regions respectively. In this work we report our results and experience in the genetic diagnosis of Osteogenesis Imperfecta in a wide cohort of patients coming from several Spanish hospitals. Mutational analysis of both COL1A1 and COL1A2 genes has been performed by double-strand sequencing. Results are discussed on the basis of inter and intragenic mutational distribution, type of mutation, aminoacid residues, familial implications and genotype-phenotype correlations. We highlight the elevated percentage of mutations not previously reported (more than 50%) identified in our population. A high expertise and experience must be required for the interpretation of nucleotide changes identified in genes with a high rate of de novo and novel (not yet reported) mutations, especially, in paediatric patients because potential social and legal implications and patients with a reproductive interest. Mutational spectrum of COL1A1 and COL1A2 genes depicted in our population provides an interesting epidemiologic and pathogenic information about Osteogenesis Imperfecta. P12.127 Distinct Oi Phenotype caused by cOL1 c-proteinase site mutations A. M. Barnes 1 , K. Lindahl 2 , T. Hefferan 3 , C. Rubin 2 , A. Kindmark 2 , M. Whyte 4 , W. McAlister 4 , S. Mumm 4 , A. Boskey 5 , O. Ljunggren 2 , J. C. Marini 1 ; 1 BEMB, NICHD/NIH, Bethesda, MD, United States, 2 Uppsala University, Uppsala, Sweden, 3 Mayo Clinic, Rochester, MN, United States, 4 Shriner’s Hospital for Children, St. Louis, MO, United States, 5 Weill Medical College, New York, NY, United States. Osteogenesis imperfecta (OI) is often caused by mutations in the type I collagen genes. Mutations in the type I procollagen C-propeptide cleavage site are of interest because they disrupt a processing step. We identified two children with mild OI who had cleavage site mutations in COL1A1 (P1: α1(I)D1041N) or COL1A2 (P2: α2(I)A1029T). P1 DEXA z-score and pQCT vBMD were +3, contrasting with radiographs demonstrating osteopenia and os-in-os vertebrae, and histomorphometry revealing increased bone remodeling, without a mineralization defect or signs of osteosclerosis. P2 had a DEXA z-score of 0, gracile long bones with radiographic osteopenia, and decreased BV/TV and increased BFR without a mineralization defect on histomorphometry. FTIR imaging analysis in both cortical and trabecular bone confirms that P1 and P2 have elevated mineral/matrix and collagen maturity compared to age-matched controls or a proband with classical OI. Steady-state collagen electrophoresis showed slight overmodification of α1(I) and α2(I) in cell layers of both probands, with a slight baseline delay in P1. Chain incorporation was normal in P1 and slightly delayed in P2. Pericellular processing of P1 was delayed, with increases in both pCα1 and proα2, while P2 had increased pCα2 and proα2 and normal processing kinetics. Together with an adult with an α1(I)A1040T substitution (Int Conn Tis 82S1: CC01), our cases suggest that defects in proα1(I) processing lead to high childhood BMD possibly due to increased bone mineral content, with signs of osteopetrosis occurring subsequently. Proα1(I) cleavage appears crucial to Cpropeptide processing, while defective proα2(I) cleavage occurs after α1(I) processing. P12.128 Pelizaeus-merzbacher Disease - different molecular defects result in various clinical picture? D. Hoffman-Zacharska1 , M. Nawara1 , K. Poirier2 , H. Mierzewska1 , T. Mazurczak1 , J. Poznanski3 , A. Kierdaszuk4 , J. Madry5 , J. Chelly6 , J. Bal1 ; 1 2 Institute of Mother and Child, Warsaw, Poland, Universite Paris Desceartes; Institut Cochin: INSERM Unite, Paris, France, 3Institute of Biochemistry and Biophysics, Warsaw, Poland, 4Provincial Hospital, Biala Podlaska, Poland, 5 6 Medical University, Warsaw, Poland, Universite Paris Desceartes; Institut Cochin: INSERM Unite, Warsaw, Poland. Pelizaeus-Merzbacher disease (PMD; OMIM 312080) is a rare, severe dysmyelination brain disorder caused by mutation in the X-linked gene PLP1. PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia; life span is shortened. PLP1 protein is exceptionally well-conserved in mammals showing nearly no poly-
Page 1 and 2:
Volume 17 Supplement 2 May 2009 www
Page 3 and 4:
European Society of Human Genetics
Page 5 and 6:
Table of Contents spoken Presentati
Page 7 and 8:
Plenary Lectures PL2.2 massive para
Page 9 and 10:
Concurrent Symposia s01.1 Genome va
Page 11 and 12:
Concurrent Symposia Monogenic diabe
Page 13 and 14:
Concurrent Symposia invariable in t
Page 15 and 16:
Concurrent Symposia s11.2 clinical,
Page 17 and 18:
Concurrent Symposia s13.2 A novel g
Page 19 and 20:
Concurrent Sessions c01.1 mRNA-seq
Page 21 and 22:
Concurrent Sessions velopmental del
Page 23 and 24:
Concurrent Sessions development of
Page 25 and 26:
Concurrent Sessions c04.6 Duplicati
Page 27 and 28:
Concurrent Sessions genes to be rec
Page 29 and 30:
Concurrent Sessions c07.5 Prenatal
Page 31 and 32:
Concurrent Sessions with familial h
Page 33 and 34:
Concurrent Sessions University of W
Page 35 and 36:
Concurrent Sessions with this, we f
Page 37 and 38:
Concurrent Sessions had immotile ci
Page 39 and 40:
Concurrent Sessions abnormal glycos
Page 41 and 42:
Concurrent Sessions showers’ and
Page 43 and 44:
Concurrent Sessions partial gene de
Page 45 and 46:
Concurrent Sessions leads to distre
Page 47 and 48:
Genetic counseling Genetics educati
Page 49 and 50:
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
Page 59 and 60:
Clinical genetics and Dysmorphology
Page 61 and 62:
Page 63 and 64:
Page 65 and 66:
Page 67 and 68:
Page 69 and 70:
Page 71 and 72:
Page 73 and 74:
Page 75 and 76:
Page 77 and 78:
Page 79 and 80:
Page 81 and 82:
Page 83 and 84:
Page 85 and 86:
Page 87 and 88:
Page 89 and 90:
Page 91 and 92:
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
Page 101 and 102:
Page 103 and 104:
Page 105 and 106:
Cytogenetics P03. cytogenetics Recu
Page 107 and 108:
Cytogenetics use of metaphase analy
Page 109 and 110:
Cytogenetics 2: mother’s age < fa
Page 111 and 112:
Cytogenetics P03.028 HLA B27 allele
Page 113 and 114:
Cytogenetics karyotype revealed a p
Page 115 and 116:
Cytogenetics drome is estimated at
Page 117 and 118:
Cytogenetics P03.057 Pathological c
Page 119 and 120:
Cytogenetics grandmother and 2 mate
Page 121 and 122:
Cytogenetics method used to detect
Page 123 and 124:
Cytogenetics P03.082 High-resolutio
Page 125 and 126:
Cytogenetics All detected anomalies
Page 127 and 128:
Cytogenetics somy for chromosome 2.
Page 129 and 130:
Cytogenetics cially in chromosome 4
Page 131 and 132:
Cytogenetics (59.390.122 to 62.021.
Page 133 and 134:
Cytogenetics For further characteri
Page 135 and 136:
Cytogenetics 9p duplication. This c
Page 137 and 138:
Cytogenetics regions with mental /d
Page 139 and 140:
Cytogenetics donation program of po
Page 141 and 142:
Cytogenetics P03.165 interpretation
Page 143 and 144:
Cytogenetics P03.174 Deletion of th
Page 145 and 146:
Cytogenetics P03.183 An atypical 7q
Page 147 and 148:
Cytogenetics spermia, 11 oligosperm
Page 149 and 150:
Reproductive genetics and social fa
Page 151 and 152:
Reproductive genetics mosomal chang
Page 153 and 154:
Reproductive genetics two cohorts w
Page 155 and 156:
Reproductive genetics the 147 SC ch
Page 157 and 158:
Prenatal and perinatal genetics P05
Page 159 and 160:
Prenatal and perinatal genetics and
Page 161 and 162:
Prenatal and perinatal genetics fro
Page 163 and 164:
Prenatal and perinatal genetics dev
Page 165 and 166:
Prenatal and perinatal genetics in
Page 167 and 168:
Prenatal and perinatal genetics obj
Page 169 and 170:
Prenatal and perinatal genetics P05
Page 171 and 172:
Cancer genetics P06.005 tiling reso
Page 173 and 174:
Cancer genetics tient group in whic
Page 175 and 176:
Cancer genetics chronic inflammatio
Page 177 and 178:
Cancer genetics licular thyroid can
Page 179 and 180:
Cancer genetics also studied. In 31
Page 181 and 182:
Cancer genetics tile polyposis. We
Page 183 and 184:
Cancer genetics Upon recombinant ex
Page 185 and 186:
Cancer genetics variant allele was
Page 187 and 188:
Cancer genetics from patients with
Page 189 and 190:
Cancer genetics tion (PAX5 and GATA
Page 191 and 192:
Cancer genetics scribed underexpres
Page 193 and 194:
Cancer genetics of the ZIC gene fam
Page 195 and 196:
Cancer genetics Materials and metho
Page 197 and 198:
Cancer genetics the past and it is
Page 199 and 200:
Cancer genetics P06.130 spectrum an
Page 201 and 202:
Cancer genetics P06.139 the role of
Page 203 and 204:
Cancer genetics and MSH2 germline m
Page 205 and 206:
Cancer genetics P06.155 New roles f
Page 207 and 208:
Cancer genetics screening was perfo
Page 209 and 210:
Cancer genetics val (DFI) than pati
Page 211 and 212:
Cancer genetics is hTERC gene ampli
Page 213 and 214:
Cancer genetics on chromosome regio
Page 215 and 216:
Cancer genetics preferentially dupl
Page 217 and 218:
Cancer cytogenetics mutations in co
Page 219 and 220:
Cancer cytogenetics P07.08 molecula
Page 221 and 222:
Statistical genetics, includes Mapp
Page 223 and 224:
Page 225 and 226:
Page 227 and 228:
Page 229 and 230:
Page 231 and 232:
Page 233 and 234:
Page 235 and 236:
Complex traits and polygenic disord
Page 237 and 238:
Page 239 and 240:
Page 241 and 242:
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:
Evolutionary and population genetic
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:
Genomics, Genomic technology and Ep
Page 287 and 288:
Genomics, Genomic technology and Ep
Page 289 and 290: Genomics, Genomic technology and Ep
Page 313 and 314: Molecular basis of Mendelian disord
Page 339: Molecular basis of Mendelian disord
Page 351 and 352: Metabolic disorders P12.167 Pattern
Page 353 and 354: Metabolic disorders PKU. BH4 challe
Page 355 and 356: Metabolic disorders catepe Universi
Page 357 and 358: Metabolic disorders respectively. G
Page 359 and 360: Metabolic disorders enzymaticaly co
Page 361 and 362: Metabolic disorders Normal Affected
Page 363 and 364: Therapy for genetic disorders in th
Page 365 and 366: Therapy for genetic disorders P14.0
Page 367 and 368: Therapy for genetic disorders of me
Page 369 and 370: Laboratory and quality management P
Page 371 and 372: Laboratory and quality management T
Page 373 and 374: Molecular and biochemical basis of
Page 385 and 386: Genetic analysis, linkage ans assoc
Page 391 and 392:
Genetic analysis, linkage ans assoc
Page 393 and 394:
Page 395 and 396:
Page 397 and 398:
Page 399 and 400:
Page 401 and 402:
Page 403 and 404:
Author Index Allanson, J.: P02.140
Page 405 and 406:
Author Index 0 Barbacioru, C.: C01.
Page 407 and 408:
Author Index 0 Bonneau, D.: C16.2,
Page 409 and 410:
Author Index 0 Chakravarti, A.: C13
Page 411 and 412:
Author Index 0 Dan, D.: P01.39, P14
Page 413 and 414:
Author Index 0 Duskova, J.: P06.012
Page 415 and 416:
Author Index Franke, A.: P09.056 Fr
Page 417 and 418:
Author Index Grasso, R.: P02.025 Gr
Page 419 and 420:
Author Index Holder-Espinasse, M.:
Page 421 and 422:
Author Index Jurkiewicz, E.: C14.5
Page 423 and 424:
Author Index Kooper, A. J. A.: P05.
Page 425 and 426:
Author Index Li, K. J.: P11.086 Li,
Page 427 and 428:
Author Index Martinet, D.: P03.095
Page 429 and 430:
Author Index Moorman, A. F. M.: P16
Page 431 and 432:
Author Index P10.57, P10.82 Oguzkan
Page 433 and 434:
Author Index P09.054, P09.085, P09.
Page 435 and 436:
Author Index P16.01 Renieri, A.: P0
Page 437 and 438:
Author Index Santorelli, F.: P08.55
Page 439 and 440:
Author Index Sinke, R. J.: P02.020
Page 441 and 442:
Author Index Taheri, M.: P04.33, P0
Page 443 and 444:
Author Index Valentino, P.: P02.064
Page 445 and 446:
Author Index Wiemer-Kruel, A.: P14.
Page 447 and 448:
Keyword Index 1 10q22 deletions: P0
Page 449 and 450:
Keyword Index autosomal dominant re
Page 451 and 452:
Keyword Index CLA: P06.073 CLCN1 ge
Page 453 and 454:
Keyword Index DMD: P16.40, P16.41,
Page 455 and 456:
Keyword Index gene networks: S12.2
Page 457 and 458:
Keyword Index hydrocephaly: P05.11
Page 459 and 460:
Keyword Index malignant hyperthermi
Page 461 and 462:
Keyword Index NAT2: P12.118 natridi
Page 463 and 464:
Keyword Index Polymalformations: P0
Page 465 and 466:
Keyword Index Sardinia: C09.6 Sardi
Page 467 and 468:
Keyword Index TNFalpha: P08.61, P09
Page 469:
ican
show all

2009 Vienna - European Society of Human Genetics

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

Delete template?

Save as template?