2009 Vienna - European Society of Human Genetics

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Cytogenetics P03.151 Familial Fraxe syndrome detected using mLPA technique A. Zuñiga, I. Pitarch, Y. Bello, A. Guerrero; Hospital de la Ribera, Alzira (valencia), Spain. We have employed MLPA technique in order to study a family with non specific mental impairment. The term non-specific or non-syndromic X-linked mental retardation (MRX) was introduced to indicate a condition segregating in an X-linked manner in which male patients have no consistent phenotypic manifestations other than MR. Nineteen genes responsible for MRX have been identified so far. P106 MRX MLPA probemix (MRC Holland MLPA®) can be used to detect copy number changes of several genes on the X-chromosome that have been implicated in (non-specific) X-linked mental retardation. Mother, a daughter (11 year old) and a son (3 year old) were analyzed using P106 MRX MLPA and a deletion was detected in AFF2 (FMR2) probe. Further analysis using conventional PCR techniques and sequencing confirmed that members of family were carriers of an expanded CGG region in FMR2 gene. Mother was carrier of an expanded allele with 70 CGG repeats, allele of daughter was expanded till 120 CGGs and allele of son was 135 CGGs. Son has a more severe phenotype, but both mother and daughter had a mild mental retardation. FRAXE fragile site associated mental retardation remains unique among X-linked mental retardation phenotypes due to its very mild to borderline nature (50 < IQ< 85). It is the most prevalent form of non-specific X-linked mental retardation so far delineated, with an estimated incidence of at least 1/50-100,000 males. The FRAXE site is within, or immediately adjacent to, the 5’ untranslated region of the FMR2 gene. P03.152 Prevalence of Fragile X syndrome in mentally retarded patients from Latvia Z. Daneberga 1,2 , Z. Krumina 1 , B. Lace 1,2 , D. Bauze 1 , N. Pronina 1 , R. Lugovska 1 ; 1 Medical Genetic Clinic, Riga, Latvia, 2 Riga Stradins University, Riga, Latvia. The most common form of X-linked mental retardation (XLMR) is the Fragile X mental-retardation syndrome (FXS). Mutations at FRAXA locus on distal Xq may cause mental impairment. Most common mutation at FRAXA locus is expansion of CGG triplet repeats located in the 5’-untranslated region of the fragile X mental retardation-1 (FMR1) gene. The aim of this study was to estimate the prevalence of FXS in Latvia and characterize the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. The group of 374 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for a normal allele. The final diagnosis of FXS has been confirmed by Southern blotting. DXS548-FRAXAC1-FRAXAC2- ATL1 haplotype for FXS patients were estimated. DNA sequencing for the estimation of AGG inserts structure for gray zone (35-50 repeats) alleles was used. 10 affected patients were detected (detection rate 2.67%). Calculated prevalence of FMR1 full mutation is 1:6173 for male in general Latvian population. After active cascade testing in 6 FXS families 6 female permutation carriers, 3 females with full mutation and 4 affected males were found. The highest incidence among FXS patients for haplotype 4-3-4-G was found. The prevalence of 29, 30 and 31 CGG repeats for normal alleles were detected. P03.153 FmR1 gene stability: distribution of premutation and intermediate alleles in five basque valleys I. Arrieta Saez 1 , M. Telez 1 , I. Huerta 1 , P. Flores 2 , B. Criado 3 , J. Ramirez 1 , M. Barasoain 1 , M. Hernández 1 , A. González 4 ; 1 Department of Genetics, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain, 2 Department of Nursing, School of Nursing, University of the Basque Country, Bilbao, Spain, 3 High School Da Maia, CESPU, Porto, Portugal, 4 Department of Internal Medicine, Faculty of Medicine, University of the Basque Country, Bilbao, Spain. Fragile X Syndrome (FXS) is the most common form of inherited mental retardation. The molecular basis is usually the unstable expansion of a CGG repeat in the FMR1 gene.The CGG sequence is polymorphic with respect to size and purity of the repeat. We had previously analyzed a sample of two Basque valleys (Markina and Arratia). In the present work we extend the study to another five isolated valleys (Uribe, Gernika, Durango, Goierri and Larraun). The results showed that differences in factors implicated in CGG repeat instability (CGG repeat size, DXS548/FRAXAC1 haplotypes and AGG interspersion pattern) are present in the Basque populations analyzed. P03.154 Prevalence of the expanded alleles of the FmR1 gene in blood spots from newborn males in a spanish population I. Fernández-Carvajal 1 , P. Walichiewicz 2 , X. Xiaosen 2 , R. Pan 2 , P. J. Hagerman 3,4 , M. J. Alonso 1 , J. J. Telleria 1 , A. Blanco 1 , F. Tassone 2,5 ; 1 1I.B.G.M.Unidad de Diagnóstico Genético y Perinatal. Universidad de Valladolid, Valladolid, Spain, 2 Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, 3 Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, CA, United States, 4 M.I.N.D. Institute, University of California Davis HealthSystem,, Sacramento, CA, United States, 5 M.I.N.D. Institute, University of California Davis HealthSystem, Sacramento, CA, United States. Fragile X syndrome is the most common inherited form of intellectual disability. The frequencies of full mutation (>200 CGG repeats) have varied widely from 1/ 2,000 to 1/ 8,000 depending on the nature of ascertainment. There remains uncertainty regarding the premutation allele frequencies due in part to lingering issues of ascertainment bias, but also to real frequency differences across ethnic and regional populations. Setting and Methods: We report results of a newborn screening study of 5,267 male blood spots collected from Castilla y Leon, the Northwest region of Spain. The blood spots were screened by a rapid PCR-based method that is capable of identifying the presence of all expanded alleles categorized as intermediate alleles (45-54 CGG repeats), premutation (55-200 CGG repeats), and full mutation (>200 CGG repeats). Results: The most common alleles, 29 and 30 CGG repeats, within this population accounted for approximately 38% of all. We found 199 gray-zone alleles (1 in 26; 95%CI, 1/23 - 1/30), 21 premutation alleles (1 in 251; 95%CI, 1/164 - 1/385), and 2 full mutation alleles (1 in 2,633; 95%CI, 1/714 - 1/10,000). Conclusions: The frequency of premutation alleles is three times higher than the oft-quoted value of 1 in 813 from an Eastern Canadian population, and is fully consistent with the results of large-scale Israeli screening studies. Our results demonstrate that newborn screening for the presence of expanded FMR1 alleles is an effective means for defining the distribution of expanded FMR1 alleles in newborn populations and is suitable for large-scale newborn screening. P03.155 molecular Genetic test for X-Fragile syndrome in 2008 iVi Assisted Reproduction treatments. A. Garda-Salas, I. Pérez, P. Albero, C. Méndez, M. Martínez, M. Nicolás, L. Fernández, J. Landeras; IVI-Murcia, Murcia, Spain. Since 2007, our company, “Instituto Valenciano de Infertilidad” (IVI) has implemented the routine molecular diagnosis of X-FRAGILE Syndrome (FRAXA) into the oocyte donation program. FRAXA is one of the greatest genetic prevalence illnesses in general population. The prevalence of full-mutation males in white population is aprox. 1/4,000. FRAXA is the most common cause associated to mental family inherited and represents among 15-20% of the total mental delay related to X cr. This illness has its origin in the deficiency of FMR1 protein synthesis. The expansion of the “dynamic” and repetitive region CGG, 5´ to Fmr-1, causes it´s methylation and repression of expression. According repetitions number of the CGG tri-nucleotide, this region is considered normal (200 CGGn). We present our most recent data for these analysis, using the Abbott Molecular protocol, called Fragile X-PCR Test. During 2008 we studied 3,485 women from different cities in Spain. All these women were susceptible oocyte’donors for processing of assisted reproductive treatments (ART). In conclusion, we found 17 (0,49 %) premutation carriers; 52 (1,49%) “intermediate” carriers and 1 (0,028%) possible full mutation carrier; 1/50 women were excluded from the donation program. The knowledge of the fragile X premutation carrier condition or full mutation carrier will permit the donor to receive the appropriate genetic counsel for reproductive end. Finally, the exclusion from the oocyte
Cytogenetics donation program of possibly “expanded” trinucleotids of this region provides greater security to the receptor patients in our processing of Assisted Reproduction. P03.156 Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the iranian population S. Abedini 1 , A. Pouya 1 , N. Mansoorian 2 , F. Behjati 1 , N. Nikzat 1 , M. Mohseni 1 , S. Esmaeeli Nieh 3 , L. Abbasi 3 , H. Darvish 1 , G. Bahrami Monajemi 1 , S. Banihashemi 1 , R. Kariminejad 2 , K. Kahrizi 1 , H. Ropers 3 , H. Najmabadi 1,2 ; 1 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Islamic Republic of Iran, 2 Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Islamic Republic of Iran, 3 Max Planck Institute for Molecular Genetics, Berlin, Germany. Fragile X syndrome is the most common form of inherited mental retardation (MR). It is caused by the expansion of CGG triplet repeats in the fragile X mental retardation 1 (FMR1) gene. In mentally retarded males, the frequency of fragile X syndrome is approximately 2 to 3 percent, but little is known about its proportion in mentally retarded patients from countries where parental consanguinity is common. The objective of this study was to estimate the frequency of fragile X syndrome (FXS) in mentally retarded patients from Iran. We examined a total of 508 families with MR that had been referred to the Genetics Research Center (GRC) in Tehran. 467 of these families had at least two mentally retarded children, and in 384 families, the parents were related. Full FMR1 mutations were found in 32 of the 508 families studied (6.3%), in 19 out of 124 families with apparently unrelated parents (15.3%), and in 13 of the 384 consanguineous families (3.4%). Thus, in Iran, the relative frequency of FXS seems to be higher than in Central Europe and other Asian countries, and much higher in patients with unrelated parents. We also show that even in families with consanguineous parents, FXS has to be ruled out before assuming that familial MR is due to autosomal recessive gene defects. Molecular studies are in progress to explain the high proportion of FMR1 mutations in mentally retarded offspring of unrelated Iranian parents. P03.157 simultaneous analysis of FmR1 and ARX genes improves the efficiency of the fragile X screening. F. Martinez, S. Oltra, I. Ferrer-Bolufer, M. Roselló, S. Monfort, C. Orellana; Hospital Universitario La Fe, Valencia, Spain. Fragile X syndrome is the most frequent form of inherited mental retardation, caused by the expansion of a CGG triplet in the FMR1 gene. On the other hand, microduplications or expansions in ARX gene, leading to elongations of a polyalanine tract, are considered the second most frequent cause of X-linked mental retardation. However, the genetic screening of this gene is not routinely performed. We conducted a prospective analysis of both genes, by the simultaneous amplification of FMR1 exon 1 and a fragment of ARX gene where the polyalanine elongations cluster, in a total of 700 developmentally retarded males remitted for fragile-X screening. We found nine unrelated cases with the fragile X syndrome and three index cases (four patients) with ARX elongations. Given the relative frequencies between both genes and the prevalence of the fragile-X expansions (about 1:5,000 males), the prevalence of ARX elongations can be estimated in 1:15,000 males. The duplex analysis we propose offers several advantages: 1) An increased sensitivity of the fragile-X screening in about 30%, with no substantial cost increment. 2) As large fragile-X expansions cannot be detected by PCR, the amplification of another fragment with similar size, GC content and presence of repeats, serves as internal reference to differentiate mutations (expansions or deletions) from technical pitfalls. 3) Similarly, weak co-amplification of a normal FMR1 allele can be suggestive of mosaicism with full mutation. Although rare, mosaic cases represent a limitation of any PCR-based method for the screening of the fragile-X expansion. P03.158 FmR2 protein, whose absence causes the FRAXE associated mental retardation, is a splicing factor B. Bardoni 1 , M. Melko 1 , J. Gecz 2 , E. Lalli 1 , M. Bensaid 1 ; 1 Institut de Pharmacologie Moléculaire et Cellulaire, Valbonne, France, 2 Department of Genetic Medicine, Women’s and Children’s Hospital,, Adelaide, Australia. FRAXE is a form of mild to moderate mental retardation due to the silencing of the FMR2 gene. The cellular function of FMR2 protein is presently unknown. By analogy with its homologue AF4, FMR2 was supposed to have a role in transcriptional regulation, but robust evidences supporting this hypothesis are lacking. We observed that FMR2 co-localizes with the splicing factor SC35 in nuclear speckles, the nuclear regions where splicing factors are concentrated, assembled and modified. Similarly to what was reported for splicing factors, blocking splicing or transcription leads to the accumulation of FMR2 in enlarged, rounded speckles. FMR2 is also localized in the nucleolus when splicing is blocked. We have recently shown that FMR2 is able to specifically bind the G-quartet-forming RNA structure with high affinity. Remarkably, in vivo, in the presence of FMR2 the ESE (Exonic Splicing Ehnancer) action of the G-quartet situated in mRNA of an alternatively spliced exon of a minigene or of the putative target FMR1 (fragile X Mental retardation & gene) appears reduced. Indeed, the absence of FMR2 does not affect the total expression of FMR1 mRNA but increases the expression of the isoforms containing exon 14 and encoding a protein localized in the cytoplasm. The role of FMR2 in splicing is not exclusive to its role in transcriptional regulation, since we cannot exclude that the function of FMR2 is modulated by the interaction with transcription factors, as, shown, for example, for SWI/SNF, a complex involved both in chromatin remodelling and regulation of alternative splicing. P03.159 Post axial polidactily and costo-vertebral anomalies in a 31 years old woman with 1qter chromosome deletion. M. Bertoli, F. Gullotta, S. Considera, V. Brugiati, S. Zampatti, C. Catalli, G. Novelli, M. Frontali, A. Nardone; U.O.C. Laboratorio di Genetica Medica Policlinico Tor Vergata, Roma., Rome, Italy. Subtelomeric deletion of long arm of chromosome 1 is described as a recognisable syndrome presenting with mental retardation, microcephaly, growth retardation, a characteristic facial appearance, corpus callosum abnormalities, cardiac, gastro-oesophageal and urogenital defects (van Bon et al., 2008). We describe a 31 years old women with a de novo 1qter deletion. We have seen her for the first time at 30 years, identified 1qter deletion by subtelomeric analysis, and characterized the size of the deletion by CGH array.. She was born to healthy unrelated parents, pregnancy was complicated with threatened abortion and growth delay (at term: weight 2.300 gr, length 48 cm, OFC 31 cm). She presented with severe hypotonia, cianosis, cleft palate, post-axial polydactyly of left foot, bilateral clubfoot, and dysmorphic features including bulbous nasal tip, thin lips and left preauricular tag. Echocardiography revealed interventricular septal defect. Thoracic X-Rays showed dorsal vertebral clefts (D4, D5 and D6), and rib fusions (I and II, V and VI, VII and VIII at left and VIII and IX at right). Ectopic left kidney and albinoid fundus oculi were also present. Since the first months of life she had generalized seizures treated with anticonvulsivants. This is the oldest patient with 1qter deletion described to date. Her phenotype includes features not reported so far such as polydactyly and ribs fusions and confirms that vertebral anomalies, previously described in 2 patients only, are not uncommon elements of the syndrome. P03.160 Evaluation of a case with 5p deletion syndrome F. Mutlu Içduygu, H. Şamli, K. Hekimler, A. Özgöz, Y. Sivaci, N. Imirzalioğlu; Afyon Kocatepe University, School of Medicine, Department of Medical Genetics, Afyon, Turkey. The case is the second child of the couple who made third cousin marriage. She had a healthy elder brother. The case was born with a birth weight of 2,720 kg and a height of 52 cm. Her growth retardation was realized at the age of 8 months. The case was physically examined and a pedigree was drawn. Metaphase plaques were obtained from peripheral blood lymphocytes of the case cultered for 72 hours and evaluated after GTL banding. The findings of the case were congenital malformation, mental retardation, cat-like cry at the first 1-2 weeks after birth, SGA (small for gestational age), growth retardation, microcephaly, strabismus, micrognathia, stridor, low set ears, high arched
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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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Page 87 and 88: Clinical genetics and Dysmorphology
Page 105 and 106: Cytogenetics P03. cytogenetics Recu
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Page 111 and 112: Cytogenetics P03.028 HLA B27 allele
Page 113 and 114: Cytogenetics karyotype revealed a p
Page 115 and 116: Cytogenetics drome is estimated at
Page 117 and 118: Cytogenetics P03.057 Pathological c
Page 119 and 120: Cytogenetics grandmother and 2 mate
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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: Cytogenetics regions with mental /d
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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Page 155 and 156: Reproductive genetics the 147 SC ch
Page 157 and 158: Prenatal and perinatal genetics P05
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Page 171 and 172: Cancer genetics P06.005 tiling reso
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Page 175 and 176: Cancer genetics chronic inflammatio
Page 177 and 178: Cancer genetics licular thyroid can
Page 179 and 180: Cancer genetics also studied. In 31
Page 181 and 182: Cancer genetics tile polyposis. We
Page 183 and 184: Cancer genetics Upon recombinant ex
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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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