2009 Vienna - European Society of Human Genetics

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Molecular basis of Mendelian disorders morphism and all types mutation have a discernible impact in human. The classes of mutations causing PMD are mainly duplications of the whole gene and point mutations. The purpose of this study is to analyse types of the PLP1 gene mutations among Polish PMD patients and compare the clinical picture in the context of the causative mutation. The molecular analysis of the PLP1 gene was performed according to general guidelines starting with gene dosage screening (MLPA method) followed by direct sequencing for patients withought rearrangements. Any type of PLP1 changes were described in 37% of probands. The duplication of all PLP1 exons was confirmed for four patients presenting different clinical picture (except brothers). We expected that the gene dosage might be modified by different size of duplication. To define more precisely the duplicated region aCGH was performed. The impact of discovered missense mutations on PLP1 protein structure and functional changes were analysed by in silico modelling. Analyses comprise the group of PMD male patients; four (2 unrelated ,2 brothers) with duplication of the whole PLP1 gene, two patients (brothers) with nonsense mutation in Ex3 and two unrelated patients with missense mutations in different exons P12.129 mutations spectrum in the stK11 gene in Polish Peutz- Jeghers syndrome patients W. Cichy 1 , M. Podralska 2 , M. Skrzypczak 2 , D. Nowakowska 3 , T. Banasiewicz 1 , P. Krokowicz 1 , M. Teisseyre 4 , E. Czkwanianc 5 , R. Slomski 6 , B. Niedoszztko 7 , A. Plawski 2 ; 1 University of Medical Sciences, Poznan, Poland, 2 Institute of Human Genetics, Poznan, Poland, 3 Institute of Oncology, Warszawa, Poland, 4 Children’s Memorial Health Institute, Warszawa, Poland, 5 Institute of Polish Mother’s Memorial Hospital, Poznan, Poland, 6 Instytitute of Human Genetics, Poznan, Poland, 7 University of Medical Sciences, Gdansk, Poland. Peutz-Jeghers syndrome (PJS) is rare, genetically conditioned disease. PJS is heredited in autosomal dominant manner and is characterized by occurrence of hamartomatous polys. The hamartomatous polyps are manifested during second or third decade of life. Occurrence hamartomatous polys in PJS may cause of many gastrointestinal discomforts. Although in PJS patients the risk of malignant transformation is lower then others hereditary neoplastic disease, an increased risk to development malignancies such as the pancreas, the breast, female and male reproductive organs is observed. The second characteristic manifestations of JPS are brown, dark or blue spots. PJS is caused by mutations in the STK11 on chromosome 19. STK11 gene encodes a serine/threonine protein kinase participating in very important cell signaling pathways. We present study considering 20 patients diagnosed with PJS. PJS diagnosis was based on presence of two or more polyps, or one polyp and typical pigmented lesions, or one polyp and a family history of PJS. Mutations screening analysis encompassing SSCP, HA and direct sequencing of the LKB1gene are reveled five mutations and one polymorphism. These mutations are located in different position in gene (1, 2, 7 exons). With the Multiplex Ligation-dependent Probe Amplification (MLPA) - assay we detected additional genomic mutations. For our screening we used the SALSA P101 STK11 kit which contains MLPA probes for most STK11 exons. In four patients we identified exonic deletions or duplications range from one to five exons The study was financed by the Polish Ministry of Science and Higher Education project no. N401014435 P12.130 molecular analysis of most common mutations in Phenylalanine hydroxylase gene in iranian population S. Zare Karizi 1,2 , G. R. Javadi 1 , S. Zeinali 3 , M. Mazinani 2 ; 1 Islamic Azad University Science and Research Campus, Tehran, Islamic Republic of Iran, 2 National Institute for Genetic Engineering and Biotechnology, Tehran, Islamic Republic of Iran, 3 Biotechnology Research Center , Pasteur Institute of Iran, Tehran, Islamic Republic of Iran. Phenylketonuria (PKU) is the most prevalent disorder of amino acid metabolism. It is one of the most important preventable causes of mental retardation. Incidence of PKU in Iran has been estimated at 1 in 3600-4000 births. The same is true of turkey. PKU is an autosomal recessive disorder and it is caused by a deficiency of hepatic phenylalanine hydroxylase enzyme. To date several hundred mutations causing PKU have been characterized in the PAH gene. The aim of this study is to assess the prevalence of PKU mutations in Iranian population. For this purpose, 150 unrelated patients with classic PKU (300 alleles) were screened for 10 mutations (IVS10-11g>a, R252W, R261X, R261Q, IVS11nt1, R408W, R408Q, L333F, 364delG and S67P) using polymerase chain reaction-restriction fragment length polymorphism. The predominant mutations in this population sample are IVS10-11g>a, R261Q, IVS11nt1 and R252W with the frequency 21.7%, 9%, 6.7% and 4.7% respectively. In addition, 6 other mutations have been identified at relatively low frequencies (R261X (4%), 364delG (3.7%), L333F (2%), R408W, R408Q and S67P (0.33%)). These informations provide a good basis for direct DNA diagnosis of PKU in this population. P12.131 case report: 6-year old girl with porencephaly, cataract and microhematuria caused by a de novo missense mutation in COL A gene K. Õunap 1,2 , R. Teek 1,3 , P. Rizzu 4 , R. Rein 5 , E. Sistermans 4 , M. S. van der Knaap 6 ; 1 Department of Genetics, United Laboratories,Tartu University Hospital, Tartu, Estonia, 2 Department of Pediatrics, University of Tartu, Tartu, Estonia, 3 Department of Oto-Rhino-Laryngology, University of Tartu, Tartu, Estonia, 4 Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands, 5 Children’s Clinic, Tartu University Hospital, Tartu, Estonia, 6 Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands. Porencephaly is heterogeneous anomaly and usually caused by an ante- or perinatal parenchymal insult in the brain. More recently, the role of mutations in the COL4A1 gene has been shown as a one cause of familial porencephaly. More than 20, mostly familial cases have been previously published. Here we describe an additional case. This patient was repeatedly investigated due to porencephaly and cataract since birth. Symptomatic focal epilepsy, microcephaly (-3SD) and unspecified microhematuria were additionally noticed. Congenital cytomegalovirus infection was firstly diagnosed, but could not be confirmed by DNA analysis on the newborn screening card. Brain MRI investigation showed bilateral porencephaly with a dark rim in the border of these areas indicating preceding hemorrhage; in other brain areas dark spots were seen, suggestive of hemosiderin deposition and damaged basal ganglia. Second MRI investigation showed additionally a signal abnormality in the hilus of the dentate nucleus. All those findings were suggestive to a mutation in COL4A1 gene. The COL4A1 gene was analyzed by sequencing analysis and a de novo missense mutation was found: c.3707G>A (p.Gly1236Glu). This mutation is likely pathogenic as it is a mutation that changes a highly conserved Gly residue within Gly-Xaa-Yaa repeats in the triple helix domain. Changes in this conserved element are likely to impair the triple helix formation during collagen assembly. It is shown that COL4A1 mutation carriers have great diversity in the clinical expression within the same family. Our described case is showing that the diagnosis should also be considered in sporadic cases of porencephaly. P12.132 Recessive primary congenital lymphoedema caused by a VEGFR3 mutation M. Vikkula 1 , A. Ghalamkarpour 1 , W. Holnthoner 2 , P. Saharinen 2 , L. Boon 3 , J. B. Mulliken 4 , K. Alitalo 2 ; 1 Laboratory of Human Molecular Genetics, de Duve Institute, UCL, Brussels, Belgium, 2 Molecular/Cancer Biology Laboratory and Ludwig Institute for Cancer Research, Biomedicum Helsinki, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland, 3 Laboratory of Human Molecular Genetics, de Duve Institute, UCL and Centre for Vascular Anomalies, Cliniques universitaires Saint-Luc, Brussels, Belgium, 4 Vascular Anomalies Center, Department of Plastic Surgery, Children’s Hospital, Harvard Medical School, Boston, MA, United States. The aetiology for primary congenital lymphoedema is not well known. Heterozygous mutations in VEGFR3 have been identified in some familial cases with dominant inheritance, known as Nonne-Milroy disease. Recessive cases of primary lymphoedema with a genetic cause are not known, except for two families with syndromic hypotrichosislymphoedema-telangiectasia, with a SOX18 mutation. In this study, we present the first case of isolated primary congenital lymphoedema with
Molecular basis of Mendelian disorders recessive inheritance, caused by a homozygous mutation in VEGFR3. The novel mutation is a transition from alanine-to-threonine in amino acid 855, located in the ATP binding domain of the VEGFR3 receptor. Assessment of receptor function showed impaired ligand-induced internalization and ERK1/2 activity. Moreover, receptor phosphorylation was reduced, although, less so than for a kinase-dead VEGFR3 mutation, which causes Nonne-Milroy disease. In conclusion, a hypomorphic VEGFR3 mutation, with moderate effect on the receptor, in a homozygous state can result in insufficient lymphatic functioning. Thus, in addition to Nonne-Milroy disease with dominant inheritance, VEGFR3 alterations can cause isolated recessive primary congenital lymphoedema. These data expand our understanding of the aetiology of congenital lymphoedema and suggest that large sale screening of VEGFR3 in all primary lymphoedema patients is necessary. P12.133 Novel PccA gene rearrangements causing propionic acidemia represent 21% of the total mutant alleles L. R. Desviat1 , R. Sánchez-Alcudia1 , B. Pérez1 , C. Pérez-Cerdá1 , R. Navarrete1 , R. Vijzelaar2 , M. Ugarte1 ; 1Centro de Biología Molecular Severo Ochoa CSIC-UAM, Madrid, Spain, 2MRC-Holland, Amsterdam, The Netherlands. Propionic acidemia is caused by mutations in the PCCA or PCCB genes coding for the two subunits of the propionylCoA carboxylase enzyme. Most of the mutations detected to date in both genes are missense. In the case of PCCA deficient patients, a high number of alleles were uncharacterised, some of them suspected to carry an exonic deletion. We have now employed multiplex ligation probe amplification (MLPA) to screen for genomic rearrangements in the PCCA gene in 20 patients with incomplete genotype. Eight different deletions were found, corresponding to a frequency of 21,3% of the overall PCCA alleles. Two of the exonic deletions were frequent, one involving exons 3-4 and another exon 23. Long-range PCR and chromosomal walking were performed to identify the deletion breakpoints. This revealed two different genomic deletions, both including exons 3 and 4, present in our sample. In all the cases studied, repetitive elements, Alu sequences or simple repeats were found at both sides of the deletion suggesting that these repeats are involved in its generation. The pathogenicity of all the deletions is established based on their predicted effects or on expression analysis of the deletion alleles. This work describes for the first time the high frequency of large genomic deletions in the PCCA gene, which could be due to the characteristics of the PCCA gene structure and its abundance in intronic repetitive elements. Our data underscore the need of using gene dosage analysis to complement routine genetic analysis in PCCA patients. P12.134 the effect of lysinuric protein intolerance (LPi) -causing mutations on y+LAt-1 / 4F2hc dimerization analyzed with acceptor photobleaching FREt microscopy M. Tringham 1 , M. Toivonen 1 , J. Salmi 1 , P. Terho 2 , K. Huoponen 1 , O. Simell 3 , J. Mykkänen 3 ; 1 Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland, 2 Turku Centre for Biotechnology, University of Turku, Turku, Finland, 3 Department of Paediatrics, University of Turku, Turku, Finland. y+LAT-1 and 4F2hc form a transporter complex for cationic amino acids in the basolateral membrane of epithelial cells, mainly in the small intestine and proximal kidney tubules. Mutations of y+LAT-1, 51 of which are currently known, cause lysinuric protein intolerance (LPI, OMIM #222700), characterized by diminished intestinal absorption of the cationic amino acids lysine, arginine and ornithine and severe loss of these amino acids into the urine. We previously established fluorescence resonance energy transfer (FRET) microscopy as a tool in studying the interactions of y+LAT-1 and 4F2hc. We now have expanded the field into exploring the effects of three different LPI-causing mutations (Finnish founder mutation 1181-2 A->T, G54V and 1548delC) on the dimerization of the transporter complex. Based on the results of this study, the mutations studied do not alter the dimer formation but mutated y+LAT-1 interacts with 4F2hc in a manner similar to that of the wild type. This can be observed by means of fluorescence resonance energy transfer confocal microscopy. The unquenching of the donor fluorescence reports of the occurrence of FRET and thus of the interaction of y+LAT-1 and 4F2hc. Consequently, we conclude that the interaction between the subunits is a primary phenomenon, which occurs irrespective of the LPI-causing mutations in the light subunit. P12.135 A Proteus syndrome case with PtEN gene mutation B. Imko-Walczuk 1 , M. Podralska 2 , W. Cichy 3 , A. Plawski 2 ; 1 University of Medical Sciences, Bydgoszcz, Poland, 2 Institute of Human Genetics, Poznan, Poland, 3 University of Medical Sciences, Poznan, Poland. Proteus syndrome is severe disorder of symmetric and disproportionate overgrowth of body parts. The first manifestations of disease are observed at birth and progress significantly with age. Proteus disease belongs to hamartomatous syndromes and is characterized by multifocal overgrowth of tissue, especially ectodermal and mesodermal tissue. We present a case of 12-year-old boy treats in A. Jurasz University Hospital in Bydgoszcz, Poland. Patient was born by natural childbirth at 33 week of gestation. Birth weight was 3200 g. The Apgar scale was scored on 9 points. The family history was negative. Since births time it has been observed overgrowth and deformation of lower right limb and left foot. Follow-up examination showed extensive dorsal angioma. Based on these findings at 36 months of age the Klippel-Trenaunay syndrome was diagnosed. Because of progression of skin, vascular and soft tissular changes the diagnosis was changed for Proteus syndrome. At the moment patient fulfills diagnostic criteria of Proteus syndrome. Our patient presents main sings of Proteus syndrome like asymmetric overgrowth lower limbs, macrodactyly, protuberant foots, scoliosis, seen skin lesions and vascular malformation. Progression of soft tissue hyperplasia in right limb and foot deformity is watched The entire coding sequence of PTEN gene was sequenced by direct PCR product sequencing. The deletion of one nucleotide was identified at the end of intron 7. The mutation was IVS7-3delT. The deletion occurred at splice junction. The study was supported by the Polish Ministry of Science and Higher Education projects no. 2PO5E02630 and N401014435 P12.136 Multiplex ligation-dependent probe amplification refines molecular diagnosis in pseudoxanthoma elasticum L. M. Costrop 1 , O. M. Vanakker 1 , P. Coucke 1 , L. Martin 2 , N. Chassaing 2 , I. Pasquali- Ronchetti 3 , A. De Paepe 1 ; 1 Center for Medical Genetics, Ghent, Belgium, 2 Department of Dermatology, Angers, France, 3 Department of Biomedical Sciences, Modena, Italy. Background: Pseudoxanthoma elasticum (PXE) is a recessive disorder characterized by oculocutaneous and cardiovascular manifestations, due to mineralization of elastic fibres. The disorder is caused by mutations in the ABCC6 gene, encoding an ATP-dependent transmembrane transporter. By conventional methods, more than 200 missense and nonsense mutations have been described, and the current ABCC6 mutation detection rate accounts for 94% of disease alleles in our cohort. Remaining disease alleles can be partly explained by middle-sized deletions, which can be missed by direct sequencing. We aimed to optimize ABCC6 analysis by screening for such deletions using multiplex ligation-dependent probe amplification (MLPA). Methods: We performed MLPA in a cohort of 35 out of 331 biopsy proven PXE patients, in whom only one or no mutations were detected after screening for the frequent multi-exon 23-29 deletion and direct sequencing of the ABCC6 coding region and exon/intron boundaries. Results: Ten deletions were observed comprising five different multiexon deletions and five novel single-exon deletions. Conclusion: For this cohort, we demonstrated that approximately 25% (10/41) of currently undetected ABCC6 disease alleles can be identified using MLPA, yielding mutation detection rates of over 95 % in our PXE population. Our results demonstrate that the majority of PXE mutations are situated in the ABCC6 gene and indicate that the involvement of another gene locus in classic PXE is unlikely. These results improve the efficacy of familial screening and genetic counseling in PXE. Therefore, we propose MLPA as a valuable additional screening method in the molecular analysis of the ABCC6 gene.
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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 291 and 292: Genomics, Genomic technology and Ep
Page 313 and 314: Molecular basis of Mendelian disord
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Page 351 and 352: Metabolic disorders P12.167 Pattern
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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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