2009 Vienna - European Society of Human Genetics

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Clinical genetics and Dysmorphology MeCP2 acts as a transcriptional repressor, however the gene expression changes observed in the hypothalamus of MeCP2 disorder mouse models suggest that MeCP2 can also upregulate gene expression, given that the majority of genes are downregulated upon loss of MeCP2 and upregulated in its presence. To determine if this role of MeCP2 extends beyond the hypothalamus, we studied gene expression patterns in the cerebellum of Mecp2-null and MECP2-Tg mice, modeling RTT and MECP2 duplication syndrome, respectively. We found that abnormal MeCP2 dosage causes alterations in the expression of hundreds of genes in the cerebellum. The majority of genes were upregulated in MECP2-Tg mice and downregulated in Mecp2null mice, consistent with a role for MeCP2 as a modulator that can both increase and decrease gene expression. Many of the genes altered in the cerebellum were similarly altered in the hypothalamus. Our data suggest that either gain or loss of MeCP2 results in gene expression changes in multiple brain regions and that some of these changes are global. Further delineation of the expression pattern of MeCP2 target genes throughout the brain might identify subsets of genes that are more amenable to manipulation, and can thus be used to modulate some of the disease phenotypes. P02.192 molecular karyotyping reveals CDKL Deletions as frequent cause of mental retardation of unknown origin A. Rauch 1 , M. Zweier 2 , A. Gregor 2 , C. Zweier 2 , E. Bijlsma 3 , F. Bosch 4 , J. Hoyer 2 , A. Ekici 2 , A. Reis 2 ; 1 Institute of Medical Genetics, University of Zurich, Zurich, Switzerland, 2 Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany, 3 Center for Human and Clinical Genetics, Department of Clinical Genetics, LUMC, University of Leiden, Leiden, The Netherlands, 4 Pediatric Hospital Fürth, Fürth, Germany. In order to further elucidate the causes of mental retardation we performed a genome-wide copy number variant (CNV) survey in 160 patients with mental retardation of unknown origin using the Affymetrix 6.0 SNP platform. Surprisingly, two of the 160 patients (1.3 %) showed microdeletions involving the CDKL5 gene. Mutations in this gene were only recently identified as causative for an atypical variant of Rett-syndrome characterized by intractable early-onset seizures often accompanied by Rett-like features. Patient 1 is a 12 months old girl, born after uncomplicated pregnancy, with secondary microcephaly, severe mental retardation, severe hypotonia and drug resistant seizures. Karyotyping, testing for Angelman syndrome and MECP2-analysis showed normal results. By array analysis a 230kb deletion on Chromosome Xp22.13, including parts of the CXorf20 gene, the complete SCML2 gene and exon 1 of the CDKL5 gene was detected. Patient 2, a 7 years old girl was born after an uncomplicated pregnancy and is severely mentally retarded. She had convulsions in her first year of life and shows stereotypical movements of her hands. Her speech is nasal and limited to a few words. MECP2 and TCF4 testing was normal. In this patient we detected a 157 kb deletion on the Xchromosome, including a large part of the CDKL5 gene, furthermore the RS1 gene and parts of the PPEF1 gene. Our findings demonstrate for the first time, that CDKL5 microdeletions are a major pathomechanism in female patients with severe mental retardation and seizures and seems to constitute a relatively frequent cause of mental retardation. P02.193 two novel cases of congenital variant of Rett syndrome related to mutations in the FOXG gene J. Nectoux1 , N. Bahi-Buisson2 , B. Girard3 , H. Van Esch4 , T. De Ravel de l’Argentière4 , Y. Fichou1 , J. Chelly1 , T. Bienvenu1 ; 1Université Paris Descartes, Institut Cochin, CNRS (UMR8103), Paris, France, 2Service de Neuropédiatrie, Hôpital Necker-Enfants-Malades, Paris, France, 3Laboratoire de Biochimie et Genetique Moleculaire, Hôpital Cochin, Paris, France, 4Centre for Human Genetics, Leuven, Belgium. The forkhead box G1 (FoxG1) is a transcription factor that is critical for forebrain development where it promotes progenitor proliferation and suppresses premature neurogenesis. Recently, the FOXG1 gene was implicated in the molecular aetiology of the congenital variant of Rett syndrome. So far, seven mutations have been reported. We screened the FOXG1 gene in a cohort of 206 MECP2/CDKL5 mutation negative patients with severe encephalopathy and microcephaly (136 females and 70 males). The screening was negative in all males. Two de novo mutations (c.1248C>G, p.Y416X and c.460dupG) were identified in two girls. Both patients showed neurological symptoms from the neonatal period with poor reactivity, hypotony, and severe microcephaly. During the first year of life, both weakly progressed and presented feeding problems. At 5 years, girls showed severe neurological impairment with gross hypotonia, no language, convergent strabismus, and no voluntary hand use. Instead, both presented the combination of jerky movements, hand-mouthing and hand-washing activities. Although our patients demonstrate severe encephalopathy compatible with the congenital variant, several features previously highlighted in FOXG1 mutations patients were not observed : absent eye contact, inconsolable crying during perinatal period, and thin corpus callosum. Others signs were not systematically observed: protruding tongue, scoliosis, and epilepsy. Although the overall frequency of mutations in FOXG1 in females with severe mental retardation and microcephaly appears to be low (1.5%), our findings suggest the requirement to investigate both point mutations and probably gene dosage in the FOXG1 gene in patients with severe encephalopathy with microcephaly, and some Rett-like features. P02.194 DNA Resequencing and Variant Identification Using a Nonsyndromic X-linked mental Retardation (mRX) Panel C. Davidson1 , F. Bartel2 , E. Nordman1 , B. Johnson1 , L. Joe1 , A. Pradhan1 , A. Felton1 , M. Friez2 ; 1 2 Applied Biosystems, Foster City, CA, United States, Greenwood Genetic Center, Greenwood, SC, United States. The prevalence of X-linked mental retardation (XLMR) is estimated to afflict ~1/1000 males. To date, there have been ~90 X-linked genes implicated in causing XLMR with the majority of these genes being associated with syndromal MR (MRXS). A smaller set of genes on the X chromosome have been associated with nonsyndromal MR (MRX) where the only discernible feature is mental retardation. Significant overlap between these two sets of genes indicates that syndromal and nonsyndromal can both be caused by alterations in many of the XLMR genes. From a clinical perspective, proper diagnosis of males with nonsyndromal XLMR is more straightforward when a positive family history exists. Unfortunately, many undiagnosed males with MRX exist, and the absence of an X-linked pedigree makes the identification of their underlying etiology much more difficult. Indicative of this difficulty is that MRX accounts for roughly 2/3 of the total number of XLMR cases. To test for MRX, the Molecular Diagnostic Laboratory at the Greenwood Genetic Center has designed a resequencing panel consisting of 95 amplicons encoding the exons and intron junctions of 9 X-linked genes. To demonstrate the advantages of a new capillary electrophoresis (CE) instrument, 19 blinded probands suspected of having MRX were directly sequenced using the Greenwood MRX resequencing panel. Variant detection in the 9 genes across the 19 samples will be discussed. The MRX Resequencing Panel coupled to the Fast Resequencing Workflow highlights the advantages of using CE for DNA resequencing and variant identification across a large number of samples and genes. P02.195 Developmental delay and a distinctive facial appearance in two families with Xq25 duplications A. Philippe 1 , V. Malan 1 , M. L. Jacquemont 1 , N. Boddaert 2 , J. P. Bonnefont 1 , A. Munnich 3 , L. Colleaux 1 , V. Cormier-Daire 1 ; 1 INSERM U781 et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France, 2 Service de Radiologie Pédiatrique, Hôpital Necker Enfants- Malades, Paris, France, 3 INSERM U781 et Département de Génétique , Hôpital Necker-Enfants Malades, Paris, France. We have previously reported a duplication (1.2 Mb) at Xq25 using whole-genome array Comparative Genomic Hybridization in a 20year-old man with syndromic mental retardation (MR) (Jacquemont et al.2006). This duplication contains four known genes, one of which is GRIA3 (Glutamate Receptor, Ionotropic, AMPA subunit 3). Mutations, deletion and partial duplication of the GRIA3 gene have been reported in males with non-syndromic MR (Wu et al., 2007; Chiyonobu et al., 2007).
Clinical genetics and Dysmorphology Our goal was to look for other patients with duplication of GRIA3 by performing Multiplex Ligation-dependent Probe Amplification (MLPA). We selected about twenty patients with MR based either on their facial features or on their behavioral disorders. We found a duplication of GRIA3 resulting from a 2.8 Mb duplication at Xq25 in a 4-year-old boy who had a similar facial appearance. These two patients presented a common clinical phenotype: psychomotor delay, hypotonia, mild mental retardation, pervasive developmental disorder and non specific cerebral MRI abnormalities associated with characteristic facial features including malar flatness, lower palpebral eversion, thick lips and hypotonic facies. In both cases, the duplication was maternally inherited. The mothers presented an X inactivation bias and were unaffected. We suggest that the Xq25 region duplication may result in a clinically recognizable condition. In particular, facial dysmorphism could help to diagnose this microduplication in males with X-linked MR. P02.196 A duplication encompassing the SMS gene involved in a Xlinked mental retardation different from snyder-Robinson syndrome A. Delahaye 1 , E. Pipiras 1 , S. Drunat 2 , C. Dupont 1,2 , A. Tabet 2 , A. Aboura 2 , J. Elion 2 , B. Benzacken 1,2 , L. Burglen 3 ; 1 Histology-Embryology-Cytogenetics Department, APHP-Jean Verdier University Hospital, UFR SMBH, Paris 13 University, Bondy, France, 2 Department of Genetics, APHP-Robert Debré University Hospital, and INSERM U676, Paris, France, 3 Genetics Department, AP-HP-Armand Trousseau University Hospital, Paris, France. Duplications on the X chromosome have been rarely reported in males with mental retardation and dysmorphism. In most of cases they are inherited from female carrier phenotypically normal. We describe the molecular characterization of a maternal interstitial dup(X)(p22.11p22.12) encompassing the spermine synthase (SMS) gene in two brothers with mental retardation. Clinically the two brothers demonstrated mild mental retardation, epicanthus, short up-slanting palpebral fissures, short extremities and hollow feet. The first one presented a strabism and cryptorchid testes, and the second a congenital club foot. Short hands and feet were also observed in the mentally normal mother. An Integragen BAC-array showed a gain for CTD-2033A1 clone, not confirmed by FISH analysis. Agilent 44K oligo-array confirmed the gain and precise the size (460 Kb). Quantitative real-time PCR confirmed the duplication in both brothers and showed the duplication was inherited from their mother. The genes included in the duplication were SMS and PHEX. We discuss the implication of SMS gene in the phenotype of our patients. SMS gene mutations were shown to be involved in the X-linked recessive mental retardation Snyder-Robinson syndrome (OMIM 309583). This syndrome is characterized by a marfanoid habitus with long thin hands and feet. We suggest that the SMS gene could be involved in another X-linked mental retardation than Snyder-Robinson syndrome. Skeletal abnormalities in our patients (short hands and feet) are the opposite of what is described in lost of function of SMS gene. Finally, this report contributes to the clinical and genetic delineations of the SMS gene defects. P02.197 the role of miRNA-105 in the development of nonsyndromic mental retardation I. Minniakhmetov1 , D. Islamgulov1 , N. Ryabchikova2 , E. Khusnutdinova1 ; 1 2 Institute of Biochemistry and Genetics RAS, Ufa, Russian Federation, Bashkir Medical State University, Ufa, Russian Federation. MicroRNAs are noncoding RNAs that regulate many cellular functions including cell proliferation, differentiation and apoptosis. They attenuate gene expression by pairing with the 3’ UTR of target transcripts inducing RNA cleavage or translational inhibition. These small regulatory molecules are central to various physiologic processes and their disruption is associated with human diseases, particularly mental retardation. The purpose of this study was to investigate miRNAs-105 role in the development of nonsyndromic mental retardation (MR). We analyzed rs10238918 SNP located in a miRNA-105 binding site of 3’UTR of NeuroD6 gene in nonsyndromic MR patients and control group. Neu- roD6 is a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. It activates E box-dependent transcription in collaboration with TCF3/E47 and is a trans-acting factor involved in the development and maintenance of the mammalian nervous system. The studied groups included 144 male patients with nonsyndromic MR (ICD-10) divided into two groups: severe and mild MR and 120 healthy controls. Genomic DNA was extracted from peripheral blood leukocytes by standard phenol/chloroform method. Genotyping was performed by the PCR-RFLP technique. Significant differences in G allele frequency have been found between patients with severe form MR and mild form (OR=2.4; CI95%=1.1-5.4), (chi2=4.4; p=0.03; df=1). The frequency of G allele in group of patients with severe MR was 32.1%, which is higher than in mild MR (16.6%). One of explanations of these differences could be that G* allele is involved in formation of the binding site to miRNA-105 thus probably suppressing the expression of NeuroD6 gene. P02.198 molecular characterization of the promoters of the X-linked mental retardation gene JARiD1c and additional members of the JARiD1 gene family L. R. Jensen, M. Schlicht, B. Lipkowitz, H. H. Ropers, A. W. Kuss; Max Planck Institute for Molecular Genetics, Berlin, Germany. X-linked mental retardation (XLMR) is genetically heterogeneous disorder affecting approximately 2 in 1000 males. Causative mutations have been found in over 100 different genes, but a significant proportion of the cases are still without molecular diagnosis. The majority of mutations were so far detected in the protein coding regions of X-chromosomal genes. However, sequence changes in regulatory regions may result in similarly detrimental effects by influencing the transcription efficiency of the respective genes. Therefore one can assume that part of the unsolved cases of XLMR may be due to promoter mutations. Thus, it is necessary to identify functional promoter elements in known XLMR-genes in order to determine where sequence changes can have functional consequences. Furthermore, the identification of factors involved in the transcription of these genes is also a way to find additional genes with a putative role in MR. Therefore we investigated the promoter region of one of the more frequently mutated XLMR-genes, JARID1C, for functionally relevant sequences. As JARID1C encodes a transcription factor, mutations in target promoters might also cause MR. Thus, having evidence of regulatory interplay between JARID1C and its homolog JARID1B, we included JARID1B as well as the other JARID1 family members (JARID1A and JARID1D) in our study. Using a dual-luciferase reporter assay to measure the activity of different parts of the 5’-flanking regions of these genes in HEK and SH-SY-5Y cells, we defined regions that are important for transcriptional activity in all four JARID1 genes. P02.199 towards understanding the pathogenetic mechanism of PQBP1 mutations in X-linked mental retardation L. Musante, S. Kunde, H. Ropers, V. M. Kalscheuer; Max-Planck-Institute for Molecular Genetics, Berlin, Germany. We have found that mutations in the polyglutamine binding protein 1 (PQBP1) gene cause X-linked mental retardation. Identical and similar mutations result in high clinical variability, ranging from moderate mental retardation to much more severe forms, including microcephaly, short stature and spasticity. More recently we have begun to unravel the pathomechanism of this disease and have found that PQBP1 mutant transcripts with a premature stop codon are partially degraded by nonsense mediated mRNA decay (NMD) and that PQBP1 mutations cause nonsense-associated altered splicing (NAS). Interestingly, some of the mutations resulted in an upregulation of naturally existing PQBP1 protein isoforms. Additional studies demonstrated that the PQBP1 protein is part of a large multiprotein complex containing RNAbinding proteins that are established components of RNA granules and play distinct roles in post-transcriptional RNA regulation and metabolism. Interestingly, we have found that PQBP1 is present in dendritic shafts of primary cortical neurons in discrete granular structures and co-localises with newly found interacting proteins in these granules. Remarkably, a fraction of the PQBP1-containing granules co-localised with the fragile X-mental retardation protein. Taken together, our find-
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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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Genetic counseling Genetics educati
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Page 59 and 60: Clinical genetics and Dysmorphology
Page 101: Clinical genetics and Dysmorphology
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
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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
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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
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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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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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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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