2009 Vienna - European Society of Human Genetics

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Molecular and biochemical basis of disease splice change that produces the skipping of exon 25. This strategy allows 1) straightforward and rapid analysis of the whole DMD gene, 2) the detection of virtually all mutations, 3) further understanding of the molecular effect of such changes. P16.45 mutation Analysis of Limb Girdle muscular Dystrophy in the czech Republic K. Stehlikova 1 , M. Hermanova 2 , P. Vondracek 3 , L. Fajkusova 1 ; 1 University Hospital, Centre of Molecular Biology and Gene Therapy, Brno, Czech Republic, 2 University Hospital, Department of Pathology, Brno, Czech Republic, 3 University Hospital, Department of Paediatric Neurology, Brno, Czech Republic. Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by atrophy and weakness of proximal girdle muscles. LGMD2A is caused by mutations in the CAPN3 gene (15q15) that encodes the muscle specific protein, calpain-3 (p94). LG- MD2A is the most frequent form of LGMD in many European countries. Until now, more than 300 pathogenic mutations have been found in the CAPN3 gene. We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level using reverse transcription-PCR or at the DNA level using PCR and direct sequencing. We screened 138 unrelated patients with preliminary diagnoses of limb girdle muscular dystrophy for mutations in the CAPN3 gene. 39 patients (28%) were found to carry mutations in the CAPN3 gene. We detected 16 previously reported mutations and 3 novel mutations (c. 802_945del, c. 1783_1788del, p.Q619X). Our results show that mutation 550 delA is the most frequent CAPN3 defect in Czech LGMD2A patients (53 %). In total, 33 % of the patients with mutation in the CAPN3 gene are homozygous for c.550delA, and 64 % carry it at least on one allele. Other frequent mutation is 598_ 612del (11%), both mutations are localised in the 4. exon. This work was supported by grant MSMT LC06023. P16.46 cAPN3 mutations in Russian patients with limb-girdle muscular dystrophy, type 2A O. Ryzhkova, G. Rudenskaya, E. Dadaly, O. Schagina, A. Polyakov; Research Center for Medical Genetics, Moscow, Russian Federation. Limb-girdle muscular dystrophy, type 2A (LGMD2A, MIM 253600) is considered the most frequent autosomal recessive MD almost everywhere in the world. The causative gene is CAPN3 located in chromosomal region 15q15.1-q21.1 and encoding a muscle-specific protease, calpain 3. Common mutations are collected mostly in eight of CAPN3 24 exons, namely, exons 4, 5, 10, 11,12, 20, 21, and 22. Forty-two unrelated Russian patients with clinical presentation of LGMD were screened for common CAPN3 mutations by direct sequencing of the eight exons. In 17 patients (40.5%), seven already known mutations were detected: c.550delA, c.598-612del, c.649G>A, c.706G>A, c.1250C>T, c.2243G>A, and c.2305C>T. In 10 patients, mutations only in one allele were identified which points to a significant proportion of infrequent CAPN3 mutations. Mutation c.550delA was found in 13 of 17 patients (76.5%) in homozygous (3 cases), compound heterozygous (3) or heterozygous (7) state, thereby in 44.4% (16/34) of affected alleles. Thus, in Russia, c.550delA is the most common CAPN3 mutation, as well as in Bulgaria, Croatia, Slovenia, and North Italy. Other six mutations were detected in single patients and not in homozygous state. Of 17 patients, 16 were of Slavic (Russian, Ukrainian, Byelorussian) and one of Korean ethnicity; only one case was familial. All patients showed typical involvement of pelvic and shoulder girdle muscles, with no cardiomyopathy, and with calf hypertrophy in some. Age of onset varied greatly (from 3 to 34 years) as well as the disease progression. Serum creatine kinase level was also highly variable, 350—9800 U/l. P16.47 A novel mutation in the Ryanodine-Receptor Gene (RYR1) in malignant Hyperthermia: case report N. Pronina 1,2 , T. Kaulins 3,4 , M. Mihelsons 5 , O. Osipova 1 , O. Sterna 1 , R. Lugovska 1 ; 1 Children’s University Hospital, Riga, Latvia, 2 Riga Stradins University, Riga, Latvia, 3 Latvian Maritime Medicine centre, Riga, Latvia, 4 University of Latvia, Latvia, 5 University of Latvia, Riga, Latvia. Malignant hyperthermia (MH) is an autosomal dominant, life-threatening pharmacogenetic disorder that is one of the causes of death during anesthesia with volatile anesthetic agents and succinylcholine and in the early postoperative period. The disease is genetically heterogeneous, with mutations in the ryanodine receptor gene (RYR1) at 19q13.1 accounting for up to 80% of the cases. To treat developed MH Dantrolene is used. A 57 y.o. male patient underwent thyreoidectomia in 2003 in State Hospital in Riga and developed following symptoms: EtCO 2 max 80 mmHg, HR till 150 beats/min, T 40,8ºC, CPK 1616 U/l after anaesthesia with sevoflurane, fentanyl and succinylholine. Dantrolene was not available in Latvia and patient died in 5 hours after anaesthesia. According to EMHG guidelines in vitro contracture test (IVCT) and DNA analysis were performed for the MHs patient’s relatives. IVCT revealed positive results with halothane and caffeine for two of MH-like patient’s family members. The functional investigation of RYR1 function in ex vivo tissues discovered the significant statistical difference in rest Ca 2+ concentrations in MHs and MHn myotubes was found. The half-maximal action’s concentration with 4CmC was significantly lower in comparison with control group (p= 0.002). Novel mutation G528T in gene RYR1 was found for four family members. Mutation G528T is a missense mutation that affects the ryanodine receptor type1 protein structure. We consider that this novel mutation the G528T should be included in MH causative RYR1 Mutations list, though the EMHG guidelines reclaim the necessity to find the same mutation in other unrelated family. P16.48 Alteration of expression of muscle-specific isoforms of FXR1P in facio scapulohumeral muscular distrophy patients B. Bardoni 1 , S. Sacconi 2 , L. Davidovic 1 ; 1 Institut de Pharmacologie Moléculaire et Cellulaire, Valbonne, France, 2 Centre de Référence pour les Maladies Neuromusculaires, CHU de Nice, Nice, France. The Fragile X Mental Retardation-Related 1 (FXR1) gene belongs to the Fragile X Related family, that also include the Fragile X Mental retardation (FMR1) gene involved in Fragile X syndrome, the most common form of inherited mental retardation. While the absence of FMRP impairs cognitive functions, inactivation of FXR1 has been reported to have drastic effects in mouse and xenopus myogenesis. Seven alternatively spliced FXR1 mRNA variants have been identified, three of them being muscle-specific. Interestingly, they encode FXR1P isoforms displaying selective RNA-binding properties. Since FacioScapuloHumeral muscular Dystrophy (FSHD) is an inherited myopathy characterized by altered splicing of mRNAs encoding muscle-specific proteins, we have studied the splicing pattern of FXR1 mRNA in myoblasts and myotubes of FSHD patients. We show here that FSHD myoblasts display an abnormal pattern of expression of FXR1P isoforms. Moreover, we provide evidence that this altered pattern of expression is due to a specific reduced stability of muscle-specific FXR1 mRNA variants, leading to a reduced expression of FXR1P muscle-specific isoforms. Our data suggest that the molecular basis of FSHD not only involves splicing alterations, as previously proposed, but may also involve a deregulation of mRNA stability. In addition, since FXR1P is an RNAbinding protein likely to regulate the metabolism of muscle-specific mRNAs during myogenesis, its altered expression in FSHD myoblasts may contribute to the physiopathology of this disease. P16.49 molecular diagnostics of DmD gene in Polish patient with Duchenne/Becker muscular dystrophy M. Kaczmarek 1 , J. Hoppe-Gołębiewska 1 , A. Pławski 1 , N. Drwęska 2 , M. Szalata 2,1 , J. Wigowska-Sowińska 3 , J. Pilch 4 , R. Słomski 2,1 ; 1 Institut of Human Genetics, Poznan, Poland, 2 University of Life Sciences, Poznan, Poland, 3 Universty School of Medical Sciences, Poznan, Poland, 4 Silesian Academy of Medical Sciences, Katowice, Poland. Duchenne/Becker muscular dystrophy is lethal, recessive, X-linked disease, characterized by progressive muscular weakness and degeneration of skeletal muscles. It is caused by mutations within the dystrophin gene. Approximately 60% of DMD and BMD patients carry large deletions comprising even several exons. The remaining mu-
Molecular and biochemical basis of disease tations are duplications (6%) and point mutations (34%). Deletions and duplications causing frame shift result in the more severe DMD, whereas mutations maintain the reading frame cause the milder BMD. Deletions and duplications are focused in two “hot spots”. Point mutations are scattered within whole DMD gene and difficult to identification. The most efficient method of deletion and duplication screening is MLPA technique, which allows identifying 100% of this kind of mutation and upgraded routine molecular diagnostics of this disease. Additional advantage of MLPA is possibility of carrier status determination. To find a point changes we use electrophoretic screening techniques as single stranded conformers polymorphism, heteroduplex analysis and sequencing to identifying. In our studies we analyzed 150 patients with progressive muscular dystrophy from Great Poland and Silesia region. DNA from 72 patients was analyzed by MLPA and remaining 78 by PCRmultiplex. Summarising, we identify 69 cases of deletion, 14 duplication and 3 point mutation. We did not observed deletion and amplification of whole gene. Deletions and duplication included only one exon occurred in 32% of patient. In central part of a gene appeared 57% of this mutation and in proximal 43%. MLPA technique improoved significantly effeciveness of molecular diagnostics of DMD/BMD and allows to identificate of carriers. P16.50 the novel mutation in CLCN gene resulting in recessive form of the myotonia congenita. E. Ivanova1 , V. Fedotov2 , S. Kyrbatov2 , A. Polyakov1 ; 1Russian Research Center for Medical Genetics, Moscow, Russian Federation, 2Center of Genetic Consultation, Voronezh, Russian Federation. Myotonia congenita (MC) is a hereditary muscle disorder characterized by delayed relaxation of skeletal muscle after voluntary contraction (myotonia). MC caused by mutations in the skeletal muscle chloride channel gene CLCN1 (7q35). The phenotypic spectrum of myotonia congenita is very diverse from mild myotonia detected only by clinical examination to severe myotonia with transitory weakness (TW) and myopathy especially in recessive cases. TW correspondents with a transitory depression (TD) of the compound muscle action potential (CMAP) during repetitive nerve stimulation (RNS). We analyzed 35 families with revealed myotonia by clinical examination in dominant or recessive forms and detected 11 mutations in 14 families. Two of these mutations detected in several unrelated families: c.1436_1449del in exon 13 of CLCN1 gene and p.493Ala>Glu. The last mutation is more interest. This novel missense mutation is detected in compound with c.1436_1449del in one patient and in gomozygote in two out of three sibs in another family. Clinical symptoms of affected sibs are moderate myotonia of masseter, transitory weakness in hands and “warm-up” effect, hypertrophy of calf, no exacerbation with decrease of temperature, the myotonia of lid is absent, taking of alcohol provoke the alleviation of symptoms. The myotonia don’t progress in time (now sibs are 36 and 40 years old). At the same time this mild form of myotonia caused by mutation 493Ala>Glu in homozygote combines with high level of decrement CMAP RNS (70 and 78%). By now, routine analysis of CLCN1 gene for patients with myotonia is going on. P16.51 molecular diagnosis of myotonic dystrophy type i in Egyptian patients I. Somaia1 , H. Radwan1 , H. Hosny1 , D. Helmy2 , E. Salah2 , L. Effat1 ; 1 2 National research Centre, Cairo, Egypt, Department of Clinical pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt. The dominantly inherited myotonic dystrophy or myotonia dystrophica (DM) disease belongs to a group of neurodegenerative disorders that results from the expansion of unstable trinucleotide repeats. In these disorders, the number of repeats increases to a critical size, affecting the gene function and leading to disease. The DM disorder has a peculiar and rare pattern of multisystemic clinical features, affecting skeletal muscles, heart, eye and endocrine system. The underlying molecular basis of the disease entails excessive expansion of a repetitive sequence in the myotonin protein Kinase gene. The aim of this study was to employ a molecular diagnostic technique for the disease among suspected Egyptian cases. Subjects and Methods: Nine probands complaining of clinical and neurophysiological features suggestive of myotonic dystrophy diagnosis were studied. Molecular studies were performed on the nine probands and their available family members. Genomic leukocytic DNA samples were extracted using a salting out technique. A polymerase chain reaction primer pair was used to amplify the designated fragment followed by estimation of the CTG repeat length. A modified nucleotide mixture was used for amplification of the expanded premutated and fully mutated CTG alleles. Results and discussion: Five families out of the nine showed abnormal repeat expansion. The PCR products were directly detected on 8% ethidium bromide stained-polyacrylamide gel. The utilization of molecular methods in DM management would not only lead to definitive molecular diagnosis and proper genetic counseling for affected families but may also aid in future prenatal diagnosis. P16.52 GtG repeat polymorphism in myotonic dystrophy patients F. Koc 1 , D. Erdogan 2 , S. Kocaturk Sel 3 , A. N. Nazli Basak 4 ; 1 Cukurova University School of Medicine, Department of Neurology, Adana, Turkey, 2 Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey, 3 Cukurova University, Department of Medical Biology and Genetics, Adana, Turkey, 4 Bogazici University, Department of Molecular Biology and Genetics, İstanbul, Adana, Turkey. Myotonic dystrophy (DM) is a neuromuscular disorder with autosomal dominant inheritance pattern. It affects various organs including skeletal muscle, heart, brain, eye, endocrine, and gastrointestinal systems. It is characterized with progressive muscle weakness and wasting and difficulty in muscles relaxation after contraction (myotonia). It is caused by an excessive number of CTG repeats at chromosome 19q13.2-13.3 region. It has four subtypes. These are classified as; premutation, mild, classical and congenital. These subtypes are named according to changes in repeat numbers. In a normal person CTG repeat number can go up to 35. Trinucleotide repeat number between 35 and 50 is not attributed to a disease condition though they are not stabile and are inherited from one generation to the next. Low trinucleotide repeat numbers can be readily amplified with PCR. High repeat numbers, however, are hard to amplify. In this study in order to amplify alleles with high CTG trinucleotide repeat numbers, “ Triple PCR” was used. Study group was consisted of 13 unrelated DM1 patients admitted to the Department of Neurology in Çukurova University School of Medicine. After the proband was diagnosed as DM1, other family members were assessed and the diagnosis was confirmed genetically. By the data obtained from the probands, the pedigrees were constructed. Thirty nine members including 20 men and 19 women of 13 unrelated DM families were analyzed for CTG trinucleotide repeat polymorphism to diagnose the DM1 patients on a molecular basis. Method of Triple PCR had positive results in all DM1 patients and proven to be a reliable diagnostic tool. P16.53 Paternal repeat length instability of myotonic dystrophy type 1 pre- and protomutations M. M. Gerrits1 , C. E. M. de Die - Smulders1,2 , C. G. Faber1 , M. J. Blok1,2 , H. J. M. Smeets1,2 ; 1 2 Academic Hospital Maastricht, Maastricht, The Netherlands, Research Institute GROW, Maastricht University, Maastricht, The Netherlands. Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, and the most common form of muscular dystrophy in adults. The molecular basis of DM1 lies in the instability of a CTG repeat in the 3’ UTR of the DM1 protein kinase gene. Small expanded DM1 alleles are usually unstable and often increase in number in successive generations. Here we evaluated the risk on expansion of an additional 22 pre- (37-50 CTG repeats) and 41 protomutation (50-80 repeats) in relation to sex and repeat length in DM1 transmitting parents for 63 DM1 parent-child pairs (33 males, 30 females). CTG-repeat lengths in the parents and children were determined by PCR and Genescan analysis. For the transmitting males, 23/33 (70%) repeats expanded to a full mutation upon transmission, whereas 5/33 (15%) repeats were stable and 5/33 (15%) slightly increased. For the transmitting females, these values were 5/30 (17%), 17/30 (57%) and 6/30 (20%), respectively. When the results were subdivided by repeat length, only one (1/8, 13%) transmitting male gave rise to a full mutation in the offspring in the premutation range, and 9/11 (82%), 6/6 (100%) and 7/8 (86%)
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Reproductive genetics two cohorts w
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Reproductive genetics the 147 SC ch
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Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics and
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Prenatal and perinatal genetics fro
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Prenatal and perinatal genetics dev
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Cancer genetics P06.155 New roles f
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Cancer genetics screening was perfo
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Cancer genetics val (DFI) than pati
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Cancer genetics is hTERC gene ampli
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Cancer genetics on chromosome regio
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Cancer genetics preferentially dupl
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Cancer cytogenetics mutations in co
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Cancer cytogenetics P07.08 molecula
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Statistical genetics, includes Mapp
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Page 331 and 332: Molecular basis of Mendelian disord
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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
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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