2009 Vienna - European Society of Human Genetics

More documents

Recommendations

Info

Molecular basis of Mendelian disorders P12.041 the study of the CYP A gene mutations in children with congenital adrenal hyperplasia from Republic Bashkortostan (Russia) V. L. Akhmetova1 , Z. F. Ramova2 , O. A. Malievsky2 , E. K. Khusnutdinova1 ; 1 2 Institute of Biochemistry and Genetics, Ufa, Russian Federation, Bashkir State Medical University, Ufa, Russian Federation. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidgenesis in which 21-hydroxylase deficiency accounts for over 95% of cases. We studied 68 patients with CAH from 68 families. The patients were divided into 2 groups according to clinical findings: salt wasting (SW) (N=41) and simple virilizing (SV) (N=27). We screened CAH-patients for 11 the most common mutations in the CYP21A2 gene: large gene deletion or large gene conversion (delA2/LGC), G110del8nt, P30L, I2splice, I172N, V281L, Q318X, R356W, E6cluster, F306+1nt . Mutations of the CYP21A2 gene were revealed in 84.51% of the studied CAH-chromosomes. The mutations were distributed as follows: delA2/ LGC (33.1%), R356W (19.72%), I2splice (13.38%), I172N (8.45%), Q318X (7.04%), P30L (1.41%) and V281L (1.41%). In 15.49% CAHchromosomes mutations were not identified. We found 8 patients who carried 3 mutations, two from which formed a cluster: Q318X+R356W (N=5), I172N+Q318X (N=2), I172N+R356W (N=1). This complex of alleles probably resulted from large conversions or multiple mutations events. In patients with SW form the most frequent mutation was delA2/LGC (39.08%), while R356W, I2splice and Q318X were found with lower frequencies (25.29%, 16.09% and 10.35%, respectively). In patients with SV form the most common mutations were delA2/LGC (25%) identified only in compound heterozygous state and I172N (17.86%), followed by R356W (10.71%) and I2splice (8.93%). Thus, we have been able to detect the spectrum of diagnostic significant CYP21A2 gene mutations typical for SW and for SV forms of CAH patients. P12.042 mutation screening of cYP1B1 Gene in North indian congenital Glaucoma Patients M. Tanwar1 , T. Dada2 , R. Sihota2 , V. Gupta2 , R. Dada1 ; 1 2 Deptt. of Anatomy, AllMS, New Delhi, India, Dr. R.P.Centre for Ophthalmic Sciences, AllMS, New Delhi, India. Primary congenital glaucoma is an inherited ocular congenital disorder that can result in permanent blindness. Its prevalence varies across ethnic communities, ranging from 1 in 10,000-20,000 in the western populations to 1 in 3300 in Southern India. Aim of this study was to investigate the predominant mutations in CYP1B1 gene in north-Indian PCG patients. Fifty PCG patients and 50 ethically matched controls without any ocular disease were enrolled in the study. CYP1B1 gene was screened for six most prevalent mutations (Termination at 223, Gly61Glu, Pro193Leu, Glu229Lys, Arg368His and Arg390Cys) by PCR-RFLP method. On PCR-RFLP analysis total 20/50(40%) showed either of these mutation. Ter@223 was found in 18%, R390C in 16% and R368H in 8% patients. On DNA sequencing R390C mutation was found to be R390H and three novel (L24R, F190L and G329D) mutations were identified. Because of Ter@223 mutation a functional null protein is produced. Arginine residues at 368 and 390 are highly conserved in cytochrome 450 proteins. These map to helix K, which is involved in proper protein folding and heme binding. E229 amino acid (aa) residue are also conserved in different cytochrome P450 proteins. E229K mutation can cause conformational changes in the protein. The most prevalent CYP1B1 mutation in our population is Ter@223 (18%) followed by R390H (16%) while from other studies from south India R368H was the most prevalent CYP1B1 mutation. Our data is different from southern population it may be because of genetic heterogeneity of the disease and different evolutionary history of both populations. P12.043 Hypoplastic left heart syndrome: is it all in HAND? D. Barachetti 1 , D. Marchetti 1 , F. Seddio 2 , L. Boni 3 , A. R. Lincesso 1 , S. Villagra 3 , A. Mendoza 3 , L. Pezzoli 1 , L. Galletti 2 , P. Ferrazzi 2 , M. Iascone 1 ; 1 Genetica Molecolare - USSD Lab. Genetica Medica, Ospedali Riuniti, Bergamo, Italy, 2 Dipartimento Cardiovascolare, Ospedali Riuniti, Bergamo, Italy, 3 Instituto Pediatrico del Corazon Hospital “12 de Octubre”, Madrid, Spain. Hypoplastic left heart syndrome (HLHS) consists of a heterogeneous group of cardiac malformations with various degrees of underdevelopment of the left heart-aorta complex. It is one of the most severe congenital heart diseases and it’s usually lethal during early infancy. Most hypotheses formulated to explain the pathogenesis of HLHS assume that there is a primary anatomic/genetic abnormality which results in low flow through the left heart and it is the diminished flow that ultimately leads to growth failure of the left sided structures. The molecular causes of HLHS are unclear. A recent report of mutations in basic helix-loop-helix (bHLH) transcription factor HAND1 found in hearts with HLHS has suggested that in hypoplastic human hearts HAND1 function is impaired. Because of the profound implication of this finding, we attempted to replicate it using peripheral blood samples from 46 patients and 8 different cardiac samples obtained from 5 patients with HLHS who underwent cardiac surgery. Newborns and children (25% female) with HLHS undergo a complete evaluation to determine the type of defect and the potential presence of extracardiac defect. The mean age at surgical intervention was 8 days old. We sequenced the entire HAND1 gene starting from genomic DNA extracted from peripheral blood lymphocytes and from cardiac samples. No evidence of germline or somatic mutations was found in this study. Germline and somatic mutations in HAND1 do not seem to be a frequent cause of abnormal cardiac development at basis of HLHS. This work is supported by Telethon grant GGP07235 P12.044 A chinese patient with congenital nephrotic syndrome of the Finnish type caused by compound heterozygous mutations in NPHS Y. P. Yuen 1 , W. K. Siu 2 , S. C. Lau 3 , A. Y. Chan 4 , C. W. Lam 5 ; 1 Department of Pathology, Hong Kong, China, 2 Department of Obstetrics and Gynecology, Princess Margaret Hospital, Hong Kong, China, 3 Department of Paediatrics & Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China, 4 Department of Pathology, Princess Margaret Hospital, Hong Kong, China, 5 Department of Pathology, The University of Hong Kong, Hong Kong, China. Mutations in NPHS1 (OMIM no.256300), NPHS2 (OMIM no.600995), WT1 (OMIM no.194080 and 136680) and LAMB2 (OMIM no.609049) are known to account for the majority of early-onset hereditary nephrotic syndromes. Our patient was the first child of non-consanguineous Chinese parents. She was born prematurely at 34 weeks with a birth weight of 1.98 kg. The placenta weighed more than 53% of the birth weight. She was noted to have facial puffiness, abdominal distension and pitting edema in her extremities on Day 13 after birth. Nephrotic syndrome was confirmed by laboratory investigations. The karyotype was 46,XX and no ocular abnormalities were noted. Left nephrectomy was performed when the patient was 4 months old for deteriorating symptoms in spite of daily albumin infusion and the use of indomethacin and ACEI. Ultrastructural examination of the removed kidney showed narrow slits and absence of slit diaphragm. The entire coding sequences and flanking introns in NPHS1, NPHS2 and WT1 were analyzed by direct sequencing. No pathologic mutations were identified in NPHS2 and WT1. However, two mutations, c.2172_ 2173delTG and c.2783C>A, were detected in the NPHS1 gene. The 2nucleotide deletion is predicted to create premature stop codon resulting in a truncated protein of 737 amino acids (E725GfsX13). The latter mutation changes codon 928 from serine (TCG) to a stop codon (TAG) (p.S928X). Both were novel mutations not described before. This is the first case of genetically-confirmed congenital nephrotic syndrome of the Finnish type in Hong Kong Chinese. P12.045 A novel mutation of the ELA2 gene in a patient with severe congenital neutropenia M. Maschan 1 , M. Kurnikova 2 , A. Maschan 1 , I. Shagina 2 , D. Shagin 2,3 ; 1 Federal Research Clinical Center for pediatric hematology, oncology and immunology, Moscow, Russian Federation, 2 Evrogen Joint Stock Company, Moscow, Russian Federation, 3 Shemyakin and Ovchinnikov Institute of Bioorganic Chemistry, RAS, Moscow, Russian Federation. Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Mutations of the ELA2 gene encoding neutrophil elastase
Molecular basis of Mendelian disorders are responsible for most cases of SCN and cyclic neutropenia (CN), a related but milder disorder of granulopoiesis. We found a novel mutation in ELA2 in Russian patient with severe congenital neutropenia. The proband was a 2 year old boy, the manifestation of disease occurred at the age of one month with the first of multiple recurrent episodes of tonsillitis, bacterial infections of skin and stomatitis. Absolute neutrophil count below 0,5*10 9 /l was recorded on multiple occasions. Serum immunoglobuline level, hemoglobin and platelet levels were normal. Bone marrow aspiration showed early arrest of granulocyte maturation. Family history was unremarkable. The clinical diagnosis of sporadic case of severe congenital neutropenia was thus established. Genomic DNA amplification of the coding exons of the ELA2 gene and their flanking regions were amplified from genomic DNA by PCR and sequenced. The mutation in heterozygous state was revealed in exon 4, and PCR fragment of exon 4 was additionally cloned and sequenced. The novel mutation is a 1-bp deletion in exon 4 (c.545delG) causing frame shift and introduction of a premature stop codon (8 codons downstream of the mutation). This frame shift mutation remove the C-terminal portion of the molecule probably resulting in destabilization of the protein structure near the active site. P12.046 connexin 26 gene in mutations autosomal recessive nonsyndromic hearing losses Z. Ocak, A. Tatar, A. Yesilyurt, S. Öztas; Medical Genetics,Medical Faculty, Ataturk University, Erzurum, Turkey. Up to day, about 34 genes and more than 100 loci have been detected in the etiology of non-syndromic hearing loss. In the result of mutation scannings carried out in various communities, it has been indicated that GJB2 (gap junction B2) gene mutations are responsible for nearly 50% of the cases with autosomal recessive non-syndromic hearing loss. Fifty patients with hearing loss and 50 healthy volunteers were included in this study. Additionally, The parents having doubtful band pattern in the analysis of Single Strand Conformational Polymorphism (SSCP) were also included in this study. The ages of the subjects were between 15 and 35 years, and the study protocol was explained to all participants, and their approvals were taken. In 13 individuals with autosomal reccessive non-syndromic hearing loss and with different band patterns by SSCP and PCR-RLFP techniques, the existence of W77X, V95M, 176-19del16, 167delT, 235delC and 35delG mutations has been also investigated. The purpose of this study is to scan GJB2 mutations, having an influence on non-syndromic autosomal recessive hearing loss, in our region. P12.047 Ryanodine receptor type mutation analysis in malignant hyperthermia susceptibility type 1, central core disease, and multiminicore disease. E. Kamsteeg, T. Hofste, H. Scheffer; Radboud University Medical Centre, Nijmegen, The Netherlands. The ryanodine receptor type 1 (RYR1) gene encodes the skeletalmuscle ryanodine receptor that is fundamental in excitation-contraction coupling and calcium homeostasis. RYR1 comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in RYR1 are associated with malignant hyperthermia susceptibility type 1 (MHS1) and with core myopathies, including central core disease (CCD) and multiminicore disease (MmD). The inheritance of these disorders is complex: MHS1 shows a dominant inheritance pattern, MmD a recessive inheritance pattern, while CCD can be inherited both in a recessive and in a dominant fashion. Additionally, maternal allele-silencing of RYR1 may complicate this picture. MHS1 and CCD, though allelic disorders, do also share some specific mutations. To date, over 250 different pathogenic mutations are known, of which less than 8% clearly is an inactivating (nonsense/splice/frame-shift) mutation. Recently, we have implemented sequence analysis of all 106 exons of RYR1 and its splice sites in MHS, CCD and MmD. We have identified 16 likely-pathogenic alleles, of which two clearly are inactivating. Of these 16 alleles, 11 are novel mutations, and 1 allele harboring three missense mutations has been found in four families not known to be related. In one CCD patient, a mutation well known in MHS1 (p.Arg614Cys) and a splice-site mutation (c.14364+1G>T) were observed in trans orientation. These data indicate that mutations specific to the Dutch population exist. The complexity of the inheritance and the obvious reduced penetrance of MHS make the determination of the pathogenicity of missense mutations and the subsequent counseling of patients challenging. P12.048 A novel smc1A gene mutation in a male with mild cornelia de Lange syndrome F. J. Ramos 1,2 , M. C. Gil-Rodríguez 1 , M. P. Ribate 1 , V. Rebage 3 , J. C. de Karam 1 , M. Arnedo 1 , A. L. Díaz 1 , A. Pié 1 , B. Puisac 1 , J. Pié 1 ; 1 Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain, 2 Hospital Clínico Universitario “Lozano Blesa”, Zaragoza, Spain, 3 Hospital Infantil “Miguel Servet”, Zaragoza, Spain. Cornelia de Lange Syndrome (CdLS) (OMIM 122470 and 300590) is an inherited multisystem developmental disorder characterized by distinctive dysmorphic craniofacial features, growth and cognitive impairment and limb malformations. Since 2004, mutations in three genes (NIPBL, SMC1A and SMC3) of the cohesin complex and its regulators have been found in affected patients. To date, 11 different mutations in 14 unrelated patients have been reported in the X-linked SMC1A gene. Here, we identified a novel sporadic SMC1A mutation (p.R711Q) in a 14-month-old male who had characteristic but mild facial CdLS appearance, microcephaly, postnatal growth retardation, mild to moderate psychomotor delay, mild congenital heart defect (ASD and PDA) and 2-3 syndactyly in the feet. The mutation altered a highly conserved residue and was not detected in his parents or in 50 control individuals. It was located at the SMC coiled-coil domain and we hypothesize that it may affect its angulation within the protein. This case supports previously published work reporting that patients with mutations in the SMC1A gene show a milder physical phenotype, generally without severe limb malformations, than patients with mutations in the autosomal NIPBL gene. This work was supported by a grant from the Ministerio de Sanidad y Consumo of Spain (Ref. PI061343) and from the Diputación General de Aragón (Ref. B20). P12.049 mutation spectrum of cYBB gene in Russian families with Xlinked chronic granulomatous disease. V. V. Zabnenkova1 , I. G. Sermyagina1 , A. V. Polyakov1 , I. V. Kondratenko2 ; 1 2 Research Centre for Medical Genetics, Moscow, Russian Federation, Russian Children’s Clinical Hospital, Moscow, Russian Federation. Chronic granulomatous disease (CGD) is genetically heterogeneous immunodeficiency disorder characterized by a defect of intracellular bacterial killing in phagocytes due to reducing of activity of NADPH oxidase complex. CGD is characterized by recurrent life-threatening bacterial and fungial infections, granuloma formation. The most common form of chronic granulomatous disease is caused by mutations in the CYBB gene accounting for about 70% of all CGD cases. Located on chromosome Xp21.1 CYBB gene encodes the β-subunit of cytochrome b558(gp91-phox), spans 30 kb, contains 13 exons. We have investigated 12 unrelated families with Chronic granulomatous disease. The search for CYBB gene mutations was performed by direct DNA sequencing analysis. The analysis of CYBB gene showed 7 new and 3 reported mutations on 12 chromosomes. The CYBB gene total deletion was registered on 2 chromosomes, novel c.27delG - on 1 chromosome, novel c.226delC - on 2 chromosomes, novel c.177C>A (p.Cys59Stop) - on 1 chromosome, novel c.565_568delATTA - on 1 chromosome, c.676C>T (p.Arg226Stop) - on 1 chromosome, c.935T>G (p.Met312Arg) - on 1 chromosome, novel c.1167delG - on 1 chromosome, novel c.1524_ 1527delGACT - on 1 chromosome, novel c.898-1ntG>A (IVS8as- 1ntG>A) - on 1 chromosome. The deletion c.27delG was de novo mutation: the patient’s mother was not heterozygous for it. 10 CYBB mutations have been registered in this investigation. Most mutations were distributed throughout the 13 exons or at exon-intron boundaries, 6 of these mutations were unique. According to obtained data we concluded that the direct DNA sequencing analysis is the best method for diagnostics for Chronic granulomatous desease.
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:
Evolutionary and population genetic
Page 271 and 272: Evolutionary and population genetic
Page 285 and 286: Genomics, Genomic technology and Ep
Page 313 and 314: Molecular basis of Mendelian disord
Page 321: 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 375 and 376:
Page 377 and 378:
Page 379 and 380:
Page 381 and 382:
Page 383 and 384:
Page 385 and 386:
Genetic analysis, linkage ans assoc
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:
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?