2009 Vienna - European Society of Human Genetics

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Metabolic disorders a role for SOS1, in the pathogenesis of IH, in cooperation with other insulin pathway genes. P13.28 Bulgarian metabolomic aproach for diagnosis of inherited Organic Acidurias M. B. Ivanova, I. Sinigerska, R. Vazharova, I. Bradinova, I. Kremensky; National Genetic Laboratory, Sofia, Bulgaria. Organic acidurias are clinically important heterogeneous group of rare inherited disorders with total frequency about 1:5-6 000 newborns. Because of the unspecific clinic the diagnosis requires the application of many highly specialized methods and comprehensive approach. Metabolomic approach (extensive quality investigation of the metabolome) is the most widely used approach for this purpose. In the National Genetic Laboratory a metabolomic approach for diagnosis of inherited organic acidurias was developed and introduced. The approach includes the next stages: urine qualitative target urine analysis of some metabolites, GC/MS urine organic acid profile, plasma amino acids and DNA analysis. The main analytical techniques are High-effective liquid chromatography (HPLC) and Gas chromatography - mass spectrometry (GC / MS). More than 1500 high risk patients were investigated by metabolomic approach. A total of 126 patients (8.8%) were diagnosed and classified into eleven basic organic acid disorder groups: defects of the aromatic aminoacid metabolism -13; propionate and methylmalonate metabolism - 8; branched chain aminoacid metabolism - 13; mitochondrial fatty acid oxidation - 14; pyrimidine metabolism -1; γ- glutamyl cycle - 2; dibasic aminoacid metabolism - 2; lactic aciduria -38; glycolysis and Krebs cycle - 8; urea cycle - 21; miscellaneous disorders - 5;. The diagnostically informative metabolite profiles are detected for each disease. Our results can be assessed as a reasonably good and completely comparable to the data of the leading European genetic centers. Results indicate that the application of a metabolomic approach is a useful and reliable algorithm for diagnosis of inherited metabolic diseases. P13.29 Phenotype of LAt2 knockout mice M. Espino Guarch 1 , S. Bodoy Salvans 2 , R. Sillué Bayarri 1,3 , G. Colell Dinares 1 , M. Font Llitjós 1,3 , M. Palacín Prieto 4,5 , V. Nunes Martínez 1,3,6 ; 1 Centro de Genética Médica y Molecular IDIBELL, Hospitalet de Llobregat, Spain, 2 Institute for research in biomedicine, Barcelona, Spain, 3 CIBERER U730, Hospitalet de Llobregat, Spain, 4 Institute for Research in Biomedicine, Barcelona, Spain, 5 CIBERER U730, Barcelona, Spain, 6 UNIVERSIDAD DE BARCELONA - IDIBELL. Ciencias Fisiológicas II, Hospitalet de Llobregat, Spain. LAT2 (SLC7A8) is a polytopic membrane protein that after covalent association with 4F2hc (or CD98, SLC3A2) forms an heterodimeric amino acid transporter. LAT2-4F2hc induces system L transport activity in the plasma membrane of most of the epithelial tissues (kidney, intestine, brain...). LAT2-4F2hc plays a role in the vectorial trans-epithelial flux of neutral amino acid (re)absoption, particularly important for cystine. To further study the physiological relevance of LAT2 in vivo, we generated a knockout mice model from ES cells. Mice model deficient in LAT2 presents around 85% of lethality (n=200) despite there are no differences in weight and basic behavior compared to the wild type animals (studied up to 8 months of age). We also generated an antibody that allows us to check the absence of LAT2 in the majority of the tissues where it is expressed. We also confirmed the basolateral location of LAT2 in the epithelial cells by immunohistochemistry with the same antibody. In addition to these preliminary results, we are analyzing amino acid content in urine and plasma, examining the histopathology of all tissues and evaluating different behavior parameters in the knockout mice. All these studies aim to increase our understanding about the physiological role of LAT2 and its functional cooperation with TAT1 and LAT1-4F2hc, both transporters implicated in the (re)absorption in the kidney and intestine. The LAT2 knockout mice model is viable so we have generated a potential tool to improve our knowledge of LAT2 function in vivo and its role in trans-epithelial flux of amino acids. Funded by MEC (BFU2006-14600-C02-02). P13.30 Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to the m.14487t>c mutation in ND6 S. Seneca 1 , B. Dermaut 2 , P. Santens 3 , L. Dom 4 , K. Smets 5 , L. Ceulemans 6 , J. Smet 3 , B. De Paepe 3 , S. Tousseyn 7 , S. Weckhuysen 8 , M. Gewillig 8 , P. Pals 9 , P. Parizel 10 , J. De Bleecker 3 , P. Boon 3 , L. De Meirleir 1 , P. De Jonghe 11 , R. Van Coster 3 , W. Van Paesschen 12 , W. Lissens 1 , I. Liebaers 1 ; 1 UZ Brussel, Brussels, Belgium, 2 University of Leuven, VIB, Leuven, Belgium, 3 University Hospital Ghent, Ghent, Belgium, 4 Koningin Paola Kinderziekenhuis, Antwerp, Belgium, 5 University of Antwerp, VIB, Antwerp, Belgium, 6 Sint-Jozefkliniek, Bornem, Belgium, 7 University of Leuven, Leuven, Belgium, 8 University Hospital Gasthuisberg, Leuven, Belgium, 9 University Hospital Antwerp, Brussels, Belgium, 10 University Hospital Antwerp, Antwerp, Belgium, 11 University of Antwerp, VIB, Brussels, Belgium, 12 University Hospital Gasthuisberg, Ghent, Belgium. Mitochondrial disorders of the oxidative phosphorylation (OXPHOS) system affect ~1/5000 individuals in the general population and present with a surprisingly wide range of multisystemic and neuromuscular phenotypes. The m.14487T>C mutation is a known pathogenic mtDNA mutation resulting in an amino acid substitution (p.M63V) in NADH dehydrogenase 6 (MT ND6), a complex I subunit of the mitochondrial respiratory chain. Thus far it has been found in isolated cases with infantile Leigh syndrome and progressive dystonia. We report here adult and late-onset phenotypes as it was seen in a 5-generation Belgian family with 12 affected family members. Clinical and mutation load data were available for 9 family members, while biochemical analysis of the respiratory chain was performed in 3 muscle biopsies. Heteroplasmic m.14487T>C levels (36-52 % in leukocytes, 97-99 % in muscle) were found in patients with progressive myoclonic epilepsy (PME) and dystonia or progressive hypokinetic-rigid syndrome. Patients with infantile LS were homoplasmic (99-100 % in leukocytes, 100 % in muscle). We found lower mutation loads (8-35 % in blood) in adult patients with clinical features including migraine with aura, Leber Hereditary Optic Neuropathy (LHON), sensorineural hearing loss and Diabetes mellitus type 2. Despite homoplasmic mutation loads, complex i catalytic activity was only moderately decreased in muscle tissue of these patients. conclusions: the m.14487T>C mutation resulted in a broad spectrum of phenotypes in our family. This is the first report of PME as an important neurological manifestation of an isolated mitochondrial complex I defect. P13.31 Laboratory approach for biochemical diagnosis of Lysosomal storage Diseases I. Sinigerska, I. Hassanova, M. B. Ivanova, R. Vazharova, I. Bradinova, I. Kremensky; National Genetic Laboratory, Sofia, Bulgaria. Lysosomal storage diseases (LSD) comprise a group of more than 40 rare diseases, most of them resulting from a specific enzyme deficiency.The diagnosis is complicated due to their clinical, biochemical and genetic heterogeinity. Definitive diagnosis, as well as prenatal diagnosis of LSD are based on a specific enzyme or DNA analysis. Quantitative and qualitative analysis of urinary metabolites facilitates differential diagnosis, pointed to the probable enzyme deficiency. Appropriate scheme of assays depending on observed clinical features has been developed in our laboratory, in order to detect rapidly and reliably 27 of known LSD and to offer a prenatal diagnosis for them . In 30 years period more than 3000 patients , suspected of having LSD have been tested according to a flowchart for biochemical diagnosis of LSD. In 112 patients a pathologycal excretion of glycosaminoglycans have been found using quantitative dimethylmethyleneblue test and qualitative thin layer chromatography or electrophoresis . Enzyme assays according to abnormal GAG patterns have been performed and 58 different mucoplosaccharidoses have been diagnosed. Thin layer chromatofraphy of oligocassharides has been applied to the patients with clinical features similar to MPS but with normal GAG excretion. Abnormal bands has been found in 33 cases and relevant enyme deficiency has been demonstrated. The definitive diagnosis on enzyme level has been set in 213 cases. Prenatal diagnosis has been undertaken ih 53 cases in families with
Metabolic disorders enzymaticaly confirmed diagnosis in the proband. The diagnostic rate obtained 6.8% shows unabiguosly the efficiency of the used diagnostic algorithm. P13.32 mutation analysis of AtP7A, AtP7B and AtOX1 genes in patients with menkes and Wilson diseases in czech Republic L. Pospisilova 1 , L. Kralik 2 , R. Bruha 3 , Z. Marecek 4 , E. Flachsova 1 , P. Fruhauf 5 , A. Puchmajerova 1 , J. Zeman 1 , P. Martasek 1 ; 1 Department of Pediatrics, 1st School of Medicine, Charles University, Prague, Czech Republic, 2 Department of Pediatrics, 1st School of Medicine, Charles University, Prague, Czech Republic, 3 Department of Internal Medicine 4, 1st School of Medicine, Charles University, Prague, Czech Republic, 4 Department of Internal Medicine 4,1st School of Medicine, Charles University, Prague, Czech Republic, 5 Faculty General Hospital Prague, Department of Pediatrics, Czech Republic. Copper plays an essential role as a cofactor for many enzymes. There are two intracellular copper transferring P-ATPases in human: ATP7A and ATP7B, and a chaperone ATOX1 which delivers copper to them. Deficiency of ATP7A causes X-linked Menkes disease (MD). A defect in ATP7B causes autosomally recessive inherited Wilson disease (WD). Here we report the mutational analysis of the ATP7A and ATP7B genes of 4 patients with MD and 125 patients with WD from the Czech Republic. Genomic DNA was used to amplify 23 exons of the ATP7A gene and 21 exons of the ATP7B gene. PCR products were examined by RFLP and sequenced. We introduced fast mutation screening based on differences in melting temperature of DNA fragments with sequence variations. We performed mutation analysis of the ATOX1 gene in patients whose clinical and biochemical phenotypes suggest impaired copper transport, but no mutations were found within the ATP7A and ATP7B genes. Molecular analysis revealed 4 mutations in the ATP7A gene, two of which have not been previously published (Q724X and E1249X). 13 mutations were found in the ATP7B gene (including prevalent H1069Q mutation), and no mutations in ATOX1 gene. Molecular analysis of the ATP7A gene allows for genetic counselling in families affected by MD. Screening for the prevalent H1069Q mutation in the ATP7B gene shows that the frequency- 44% of analysed alleles- is in accordance with its occurrence in Central Europe. Supported by Grants IGA MZ NR9406, NR9215, MSMT 1M0520 P13.33 the clinical spectrum of methylmalonic Aciduria secondary to Cobalamin B Deficiency in Three Saudi Families N. A. Al-Sanna’a1 , R. Mathew2 ; 1 2 Dhahran Health Center, Dhahran, Saudi Arabia, Vanderbilt University, Vanderbilt, TN, United States. We report eight patients with Methylmalinic aciduria secondary to Cobalamin B deficiency from three Saudi families. Their age ranged between four to nineteen years. The diagnosis was confirmed by vitamin B12 complementation study done on cultured skin fibroblasts. Only four of them had their first symptoms within the first few days of their life. However, all had become symptomatic by the end of their first year. All the affected children were subjected to a restricted protein diet, special formula and L-Carnitine supplement. Multiple hospital admissions per year were required for acute metabolic decompensation by the majority. Three patients died at six months, four and fourteen years of age as a result of their underlying disease. Three had developed a renal insufficiency, and one had required hemodialysis. Five children were able to attend regular schools with variable performances. One of the surviving children had sustained a severe psychomotor retardation. A detail clinical course and outcome for seven of the affected children and review of the literature is provided. P13.34 mitoNEt - German Network for mitochondrial disorders H. Prokisch 1 , I. Witt 2 , L. Schöls 3 , M. Schülke-Gerstenfeld 4 , P. Freisinger 5 , W. Kunz 6 , A. Abicht 7 , B. Obermaier-Kusser 8 , T. Meitinger 1 , T. Klopstock 7 ; 1 Technical University of Munich, Institute of Human Genetics, München, Germany, 2 Molecular Bioenergetics, University Clinics Frankfurt, Frankfurt, Germany, 3 University of Tübingen, Department of Neurology and Hertie-Institute for Clinical Brain Research, Tübingen, Germany, 4 Klinik für Pädiatrie m. S. Neurologie, Charité Virchow Klinikum, Berlin, Germany, 5 Technical University of Munich, Stoffwechselzentrum Kinderklinik, München, Germany, 6 University Bonn, Department of Epileptology and University Jena,, Bonn, Germany, 7 Friedrich-Baur-Institute, Dept. of Neurology Ludwig-Maximilians-University of Munich, München, Germany, 8 Klinikum der Stadt Ludwigshafen gGmbH, Institute for Clinical Chemistry and Molecular Diagnostics, Ludwigshafen, Germany. Aims: The principal goal of mitoNET is to establish a network of clinical and basic scientists in order to improve health care for patients with mitochondrial diseases. Work plan Steps to achieve this are: i) Buildup of a nationwide network of neurological and paediatric departments for recruitment and phenotyping of patients, setup of a webbased register, and conduction of longitudinal studies; ii) Comprehensive collection and storage of biological materials including DNA, RNA and myoblasts, providing aliquots to researchers within and outside the net; iii) Enhancing the range of diagnostic tools, including new assays to quantify mitochondrial proteins and dynamics, high-throughput genotyping, and a systems approach; iv) in vitro investigations of novel treatments including an approach to improve respiratory chain deficiency by fibrate-induction of peroxisome proliferator-activated receptor pathways and an approach to identify mechanisms behind and strategies against propagation of mtDNA mutations; v) Increased collaboration of basic and clinical researchers to boost synergy effects, interdisciplinary cooperation and training initiatives; and vi) Increased public and professional awareness. Expected results: Progress in the projects of the consortium and the additional boost for collaboration, synergy and communication will lead to an improvement in diagnostics, therapy and medical care for patients with mitochondrial diseases. P13.35 Respiratory pathology in monozygotic sisters with mPs1 M. O. Mkheidze 1 , D. S. Poliakov 2 ; 1 Medical academy for postgraduate studies, St.Petersburg, Russian Federation, 2 Medical university named after I.P.Pavlov, St.Petersburg, Russian Federation. Mucopolysaccharidosis 1 (MPS1, Hurler syndrome, MIM252800) is an autosomal recessive disease characterized by variable systemic manifestations, increased urinary mucopolysaccharide excretion and the defective α-L-iduronidase (IDUA, EC 3.2.1.76). The MPS1 gene has been mapped to chromosome band 4p16.3. Two common nonsense mutations W402X and Q70X are responsible for between 15 and 65% of mutant alleles depending on the population. We report on 8-year-old monozygotic sisters with MPS1 caused by IDUA deficiency (genotype Q70X/Q70X). The probands have severe variant of MPS1, including coarse facial features, corneal opacity, skeletal dysplasia, dysostosis multiplex, mental deficiency and hepatosplenomegaly. They suffer from frequent attacks of respiratory lung disorders. Both sisters get rhinitis, acute bronchitis three or four times each year. One of the monozygotic sisters got bronchopneumonia last year. Both girls had the sings of emphysema and fibrosis of lung tissue revealed with X-ray observation. We suppose that pulmonary disorders in our children are caused by inborn error of mucopolysaccharide degradation because a deficiency of the lysosomal enzyme IDUA results in accumulation of the mucopolysaccharides dermatan sulfate and heparin sulfate throughout tissues and organs of our patients. Pessimistic prognosis, death from MPS1, is usually caused by upper airway obstruction and pulmonary complications. We use enzyme replacement therapy with laronidase. Although the phenotypes were slightly modified there was still physical handicap and developmental delay. P13.36 Age-dependent changes of the mitochondrial DNA content in muscle, liver and fibroblasts K. Vinsova, M. Pejznochova, E. Trefilova, M. Tesarova, J. Zeman; Charles University, First Faculty of Medicine, Department of Pediatrics and Center of Applied Genomics, Prague, Czech Republic. Tissue-specific depletion of mitochondrial DNA (mtDNA), caused by mutations in increasing number of genes, often gives rise to serious mitochondrial disorders. Recently, a real-time PCR (qRT-PCR) has
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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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Page 307 and 308: Genomics, Genomic technology and Ep
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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,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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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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