European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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Molecular and biochemical basis of disease The precise function of COX16 is unknown. Its small size suggests that it doesn’t have a catalytic role, but rather that it could act by stabilizing nascent COX subcomplexes in analogy to PET100. The effect of COX16 silencing on COX activity is striking, suggesting that COX16 may play an important role in the regulation of the COX assembly process. The role of COX16 in COX deficiency has yet to be determined. A previous study failed to detect mutations in patients with isolated COX deficiency, we are now screening a novel cohort of patients for mutations in this gene. P0857. Investigation of the Spinocerebellar ataxia type 10 mutation in the Cypriot population C. Votsi, A. Georghiou, T. Kyriakides, M. Pantzaris, S. Papacostas, E. Zamba- Papanicolaou, K. Christodoulou; The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. Spinocerebellar ataxia type 10 belongs to the group of neurodegenerative diseases known as autosomal dominant cerebellar ataxias. Genetic studies in patients with SCA so far revealed 12 genes responsible for ADSCA and 12 mapped loci without gene identification. SCA10 is characterized by progressive ataxia and seizures. The underlying mutation is a large expansion of an ATTCT repeat in intron 9 of the SCA10 gene. Our aim is to determine the relative frequency of SCA10 in Cyprus, which constitutes part of our wider effort to identify the genetic defects of the Cypriot SCA sporadic patients and families, which prove to be exceptional in comparison with other populations. We analyzed the ATTCT repeats in 37 SCA patients, previously excluded from other genes (FRDA, SCA1-3, SCA6-8, SCA12, SCA17 and DRPLA). We also determined the size of repeats in 57 normal controls from the Cypriot polulation. The repeat lengths were analyzed by polymerase chain reaction followed by fragment analysis. Southern blot analysis is currently performed for samples with one allele detected, in order to confirm homozygosity or presence of a SCA10 expansion. Normal control sample repeat lengths ranged from 11 to 20 with 82,5% heterozygosity and the 14 repeats allele is more frequent (38%) in the Cypriot population. In the patient group, repeats ranged from 12 to18 with 73% heterozygosity. Three patients have already been confirmed to be homozygous for a normal range allele. In conclusion, our results agree with other studies demonstrating that SCA10 is rare in polulations other than the Mexican. P0858. SCA17 transgenic mice exhibit a neurodegenerative phenotype H. Nguyen, C. Bauer, T. Ott, T. Hennek, O. Riess, P. Bauer; Department of Medical Genetics, Tübingen, Germany. SCA17 is a progressive neurodegenerative disease leading to cerebellar ataxia and dementia. Several accessorial symptoms such as Parkinsonism, dystonia, and psychiatric disturbances commonly aggravate the disease course. Genetically, a CAG/CAA expansion in the TATA binding protein (TBP) is expanded in SCA17 patients, leading to an expanded polyglutamine chain in this ubiquitously expressed transcription factor. We have generated transgenic mice overexpressing a 64 CAG/CAA repeats containing human TBP (Q64TBP) gene under the control of the truncated human prion protein promoter (PrP). Transgene protein expression throughout different brain regions (cortex, basal ganglia, cerebellum, and brain stem) was clearly demonstrable. Onset of motor dysfunction (Accellerod) started by 20 weeks and the life span of transgenic animals was reduced. We present detailed morphological and phenotypical data for this rodent model of SCA17, which enables us to further study the pathogenesis of this progressive neurodegenerative disease. P0859. SOST gene mutation in two Brazilian families with sclerosteosis C. A. Kim1 , R. S. Honjo1 , D. R. Bertola1 , L. M. J. Albano1 , L. A. N. Oliveira1 , S. M. C. P. Jales1 , J. T. T. Siqueira1 , W. Balemans2 , E. Piters2 , K. Jennes2 , W. van Hul2 ; 1 2 Instituto da Criança, São Paulo, Brazil, Department of Medical Genetics, Antwerpen, Belgium. Sclerosteosis is a rare, autosomal recessive disease characterized by a progressive craniotubular hyperostosis. The main features are: high stature, nail dysplasia, cutaneous syndactyly of some fingers, signifi- 22 cant sclerosis of the long bones, ribs, pelvis and skull, leading to facial distortion and entrapment of cranial nerves. The sclerosteosis gene has been mapped to 17q12-21 and is known as the SOST gene encoding sclerostin protein. We report on one familial and one sporadic case with clinical and molecular diagnosis of sclerosteosis. Case 1: 34-year-old male, with difficulty in opening mouth, hemifacial and tongue pain, gustatory hyperlacrimation and hypoacusis. Four sisters had similar clinical complaints, three of whom had cutaneous syndactyly of some fingers. Physical examination: macrocephaly, long face and widely spaced teeth. Radiological studies: poor development of the mandible angle, asymmetric face, sclerosis of the skull and craniofacial bones, hyperostosis of the ribs, pelvis and long bones. Case 2: 6-year-old girl, presented with recurrent facial paralysis. There was no significant facial dysmorfism. Cutaneous syndactyly of the index and middle fingers was present. Radiological studies: sclerosis of the skull, spine, pelvis and long bones. The clinical diagnosis of sclerosteosis in both cases was confirmed by analysis of the SOST gene showing the same mutation (Trp124X). We reported this mutation previously in other Brazilian patients. Curiously, both families were from the same state in Brazil, but they denied familial relationship. In conclusion, these patients confirm the clinical picture as found in other cases with a loss of function mutation in the SOST gene. P0860. Determining the expression of the human SPP2 in lymphocytes, endothelial cells and monocytes and the effect of TNF-α and LPS on the expression using RT-PCR method H. Khorram Khorshid 1 , R. Dalgleish 2 ; 1 Genetic Research Centre, The Social Welfare and Rehabilitation Sciences University, Tehran, Islamic Republic of Iran, 2 Department of Genetics, University of Leicester, Leicester, United Kingdom. Secreted phosphoprotein 24 (spp24) is a member of the cystatin superfamily and was first identified in cattle as a minor component of cortical bone. Subsequently it was recognised as a component of the fetuin-mineral complex. In the original study, the expression of the gene encoding spp24 (Spp2) was demonstrated in bovine bone periosteum and liver and it was later demonstrated that Spp2 is expressed in chicken and mouse T-cells and also in the mouse thymus. Hence, it was decided to investigate the expression pattern of the human spp24 gene (SPP2) in peripheral white blood cells. Mononuclear lymphocytes and monocytes were isolated from whole fresh human blood and endothelial cells were prepared from the umbilical cord of a neonate. PCR amplification of reverse-transcribed mRNA indicated that SPP2 is expressed in human lymphocytes and endothelial cells, but not in monocytes. The effects of lipopolysaccharide (LPS) and tumour necrosis factor alpha (TNFα) on the expression of the human SPP2 gene were studied by their addition to cultures of monocytes, mononuclear cells and endothelial cells for up to 24 hours. Under standard culture conditions, which included bovine serum albumin (BSA) in the culture medium, there is expression of SPP2 in mononuclear lymphocytes and in endothelial cells at 16 hours, but not in monocytes. The addition of either LPS or TNFα down-regulates SPP2 expression in lymphocytes in a time-dependent fashion. However, the down-regulation effect of TNFα on endothelial cells is, by comparison, only modest. These findings may help us understand the function of spp24. P0861. Mitochondrial DNA instability and recessive POLG mutations in patients with isolated adult-onset sensory ataxic neuropathy S. Bannwarth 1,2 , K. Fragaki 1,2 , J. Pouget 3 , D. Figarella-Branger 4 , V. Paquis- Flucklinger 1,2 ; 1 Department of Medical Genetics, Nice, France, 2 UMR CNRS 6543, Nice, France, 3 Department of Neurology, Marseille, France, 4 Department of Anatomopathology, Marseille, France. Nuclear gene defects affecting mtDNA stability include the mtDNA polymerase (POLG), the adenine nucleotide transporter (ANT1) and the Twinkle helicase. There is a considerable variability in the phenotype associated with POLG mutations which are responsible for autosomal dominant and recessive progressive external ophtalmoplegia (PEO), Alpers syndrome, a sensory ataxic neuropathy, dysarthria and ophtalmoparesis (SANDO) and a mitochondrial recessive ataxic syndrome. Nevertheless, patients with POLG mutations and sensory
Molecular and biochemical basis of disease ataxic neuropathy always presented with associated muscular and/or central neurological system features. The aim of our study was to test whether POLG mutations can be responsible for isolated sensory ataxic neuropathy. We screened 15 patients by direct sequencing. Seven patients were men and the median age of the population was 57 years. The presenting and only feature was ataxia caused by axonal sensory neuropathy. A 50 year-old woman was found to be a compound heterozygous carrying the c.1391T>C mutation (M464T) in combination with the c.2302A>G substitution (K768E). No POLG mutation was found in other patients. Nevertheless, a muscle biopsy was performed in two cases. Ragged-red and COX negative fibers were found in one patient, with multiple mtDNA deletions by both long range PCR and Southern blot analysis. The patient was a 67 year-old man who developped ataxic symptoms at the age of 47. ENMG revealed normal motor potentials and absent sensory potentials in the four limbs. No mutations were detected in ANT1 or Twinkle. In conclusion, mitochondrial disease has to be considered as a cause of isolated adult-onset sensory ataxic neuropathy. P0862. Sepsis and mitochondrial DNA A. Pyle 1 , S. V. Baudouin 2 , P. F. Chinnery 1 ; 1 Mitochondrial Research Group, Newcastle upon Tyne, United Kingdom, 2 Surgical and Reproductive Sciences, Newcastle upon Tyne, United Kingdom. Sepsis-induced multiple organ failure is the major cause of mortality and morbidity in critically ill patients. However, the precise mechanisms of this dysfunction are largely unknown. Genetic studies suggest a strong genetic component to both the risk of developing sepsis and the subsequent outcome in terms of survival. The failure of cellular oxygen use appears to be important in the development of multiple organ dysfunction in severe sepsis. Mitochondria are small membrane-bound intracellular organelles. They are involved in multiple cellular processes such as energy metabolism, apoptosis and generation of reactive oxygen species (ROS). Impaired mitochondrial function in septic patients is associated with poor clinical outcome. Epidemiological studies indicate that premature death from infection has a strong inherited component and natural genetic variation in mitochondrial DNA (mtDNA) provides a potential explanation. Human mtDNA is maternally inherited. The population can be divided into several mtDNA haplogroups on the basis of specific single nucleotide polymorphisms (SNPs) scattered throughout the mitochondrial genome, indicating that mutations accumulated by a discrete maternal lineage during evolution. The SNPs that define the mtDNA haplogroups are markers of a particular maternal lineage of mtDNA. The majority of Europeans belong to one of nine haplogroups with haplogroup H being the most common (44%). Our group found an improved survival in septic patients with haplogroup H. MtDNA copy number was measured in 59 haplogroup H patients and 34 control samples. Differences in mtDNA copy number were observed between survivors and non-survivors. P0863. Histidine-Rich Calcium Binding Protein Interacts with SERCA2 in a Ca-Dependent Manner D. A. Arvanitis 1 , E. Vafiadaki 1 , B. A. Mitton 2 , K. N. Gregory 2 , F. Del Monte 3 , A. Kontrogianni-Konstantopoulos 4 , E. G. Kranias 2,1 , D. Sanoudou 1 ; 1 Molecular Biology Division, Foundation for Biomedical Research, Academy of Athens, Athens, Greece, 2 Department of Pharmacology and Cell Biophysics, College of Medicine, University of Cincinnnati, Cincinnati, OH, United States, 3 Department of Cardiology, Harvard Medical School, Massachusetts General Hospital, Boston, Boston, MA, United States, 4 Department of Physiology, School of Medicine, University of Maryland Baltimore, Baltimore, Baltimore, MD, United States. Deregulation of Ca cycling by the sarcoplasmic reticulum (SR) in the cardiomyocyte has been associated with depressed cardiac function which may progress to heart failure. The histidine-rich calcium binding protein (HRC) is a low affinity, high capacity Ca-handling SR protein that binds to triadin. Through this interaction HRC may affect Ca release by the ryanodine receptor. HRC overexpression in transgenic mouse hearts was associated with decreased rates of SR Ca uptake and delayed relaxation, which progressed to hypertrophy upon aging. Using a combination of in vivo co-immunoprecipitations and pull-down assays in human and mouse cardiac homogenates, and in vitro blot overlay experiments with GST and MBP recombinant proteins, we 22 identified the direct binding of HRC to SERCA2 in cardiac muscle. This interaction involves the histidine and glutamic acid-rich domain of HRC (320-460 aa) and part of the N-terminal cation transporter domain of SERCA2 (74-90 aa), which projects into the SR lumen. The SERCA2 binding domain is upstream from the triadin binding region in human HRC (609-699 aa). Ca-titration experiments indicated that the binding of HRC to SERCA2 was reduced by 75%, when the Ca concentration as raised from 0.1 to 100 μM. Increasing Ca-concentrations had opposite effects on the HRC binding to triadin. Collectively, our data suggest that HRC may be involved in the regulation of SR Ca-cycling by its direct interaction with SERCA2 and triadin, which may be affected by local Ca changes. Thus, HRC may mediate a fine cross-talk between SR Ca uptake and release. P0864. Mutation spectrum of IL2RG gene in Russian families with X-linked combined immunodeficiency. I. G. Sermyagina1 , S. M. Tverskaya1 , A. V. Polyakov1 , I. V. Kondratenko2 ; 1 2 Research Center for Medical Genetics, Moscow, Russian Federation, Russian Children’s Clinical Hospital, Moscow, Russian Federation. X chromosome-linked severe combined immunodeficiency (X-SCID) is a rare disease of serious imbalance cellular and humoral immune function. X-SCID results from a mutation in the gene encoding the gamma subunit of the interleukin-2 receptor (IL2RG), a component of several IL receptors. IL2RG gene contains 8 exons and has been mapped to the Xq13.1 region. Direct DNA sequencing of all exons and exon-intron junctions and PCR-RFLP performed a search of IL2RG gene mutations. We have detected 8 mutations in 9 unrelated families with X-SCID. In this molecular investigation we identified 6 novel mutations, the others have been reported. In exon 2 and exon 3 of IL2RG gene we show three missence mutations: reported - p.Glu68Lys, p.Tyr105Cys and novel - p.Cys72Trp. We identified a new missense mutations (p.Cys182Ser) and (p.Cys182Tyr) in exon 4 of IL2RG gene in a two affected probands with X-SCID. In a two patients with X-linked combined immunodeficiency in our Center we found two unicue splice mutations (IVS 5 as-2nt a->g) and (IVS 5 as-1nt g->a) in intron 5 of IL2RG gene. One insertion (c.837ins9bp) we identified in a boy with X-SCID in exon 6 of IL2RG gene. The mothers of all patients were heterozygous for the mutation. Also, three prenatal diagnostics of X-SCID were made. In this molecular investigation of nine familys with X-linked combined immunodeficiency we have detected different mutations in exon 2, 3, 4, 6 and intron 5. We supposed two “hot spots” in exon 4 and in intron 5 of IL2RG gene. P0865. Identification of small genomic deletions flanking the human SHOX gene S. Thomas, K. Baker, D. Bunyan, J. Harvey; Wessex Regional Genetics Laboratory, Salisbury, United Kingdom. In addition to point mutations and gene deletions, haploinsufficiency of the human SHOX gene can also result from deletions 3’ of the gene. These are generally 80 to 500 kb in size, with a 29kb minimal deleted region, that exert a position effect. These classes of mutation account for only 70% of Leri-Weill dyschondrosteosis (LWD) patients. Therefore we have used the MRC-Holland SHOX MLPA kit supplemented with additional probes to screen for novel types of SHOX mutation in 73 cases in whom no mutation was previously identified (16 with LWD, 12 with short stature and 45 with undefined skeletal dysplasia). Upstream of SHOX we identified two deletions, of maximum size 73kb and 160kb, each in a single patient. Neither deletion was present in 88 normal controls. Downstream (3’) of SHOX we identified two deletion classes: 12 of the 73 patients (16%) carried an approximately 10kb deletion and two LWD patients (3%) were compound heterozygotes for the 10kb deletion and a larger overlapping deletion of up to 60kb. The larger deletion was absent among the 88 controls, but there were 13 carriers of the 10kb deletion (15%). Among 12 LWD mutation positive cases, there were two 10kb deletions (17%) and one larger deletion (8%). In summary additional types of SHOX mutation are likely to exist, although it will be difficult to assess their functional significance. The deletions identified in this study do not appear to cause classical SHOX haploinsufficiency, however it is possible they may act to modify phenotypic expression.
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Volume 15 Supplement 1 June 2007 ww
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Table of Contents Spoken Presentati
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Plenary Lectures Plenary Lectures P
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Plenary Lectures labile iron can be
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Concurrent Symposia S07. Vertebrate
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Concurrent Symposia S17. Towards a
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Concurrent Symposia 11 at E13.5 sim
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Concurrent Symposia 1 phomagenesis.
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cover cryptic mutations in Drosophi
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Concurrent Sessions first excluded
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Concurrent Sessions of 210 ancestry
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Concurrent Sessions C23. Literature
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Concurrent Sessions a boy with a ty
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Concurrent Sessions C40. Mutation o
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Concurrent Sessions C48. CHROMSCAN:
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Concurrent Sessions C57. RNAi-based
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Concurrent Sessions been replicated
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Concurrent Sessions involved in an
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Concurrent Sessions tion considers
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Clinical genetics lateral neurosens
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Clinical genetics apparently sporad
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Clinical genetics itar syndrome, wh
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Clinical genetics diseases, Foundat
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Clinical genetics P0041. The first
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Clinical genetics EFNB1 was found t
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Clinical genetics of the CSB gene.
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Clinical genetics growth retardatio
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Clinical genetics PCR with a modifi
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Clinical genetics pound heterozygou
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Clinical genetics plicated: two cou
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Clinical genetics P0105. APC gene m
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Clinical genetics an indication of
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Clinical genetics great importance
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Clinical genetics P0133. Hidrotic e
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Clinical genetics eight patients as
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Clinical genetics P0152. Kabuki syn
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Clinical genetics P0161. Intrafamil
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Clinical genetics matter and normal
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Clinical genetics type at 550 bands
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Clinical genetics will be confirmed
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Clinical genetics nosed. Accurate r
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Clinical genetics which has not bee
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Clinical genetics P0217. Partial mo
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Clinical genetics fested progeroid
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Clinical genetics A 29 years old ma
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Clinical genetics ing loss (HHL). I
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Clinical genetics dació Son Llatze
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Clinical genetics These preliminary
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Clinical genetics P0272. Williams S
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Cytogenetics Po02. Cytogenetics P02
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Cytogenetics to reports from Saudi
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Cytogenetics P0298. Female-specific
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Cytogenetics P0306. Lipoatrophic pa
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Cytogenetics 22 leading to the form
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Cytogenetics somal sperm and that o
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Cytogenetics University of Belgrade
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Cytogenetics Within the same metaph
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Cytogenetics Less than 10 cases of
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Cytogenetics lar markers taken from
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Cytogenetics Brain Unaffected Schiz
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Cytogenetics ability with no speech
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Cytogenetics P0389. An age based cy
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Cytogenetics P0399. Molecular Chara
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Cytogenetics ing of complex examina
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Cytogenetics letion in 5q33 in all
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Cytogenetics and his son carried th
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Prenatal diagnosis tion about famil
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Prenatal diagnosis P0443. The risk
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Prenatal diagnosis in house PCR pro
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Prenatal diagnosis P0462. Increased
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Prenatal diagnosis P0471. Preimplan
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Prenatal diagnosis agreement with w
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Prenatal diagnosis of Turner Syndro
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Cancer genetics ously defined for d
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Cancer genetics Their frequencies w
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Cancer genetics tion Clinic-Portugu
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Cancer genetics tric carcinogenesis
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Cancer genetics P0532. Secondary ch
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Cancer genetics P0542. Differential
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Cancer genetics gastric cancer risk
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Cancer genetics ania, 3 The Institu
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Cancer genetics low: 8% (8/98 sampl
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Cancer genetics P0578. Somatic mito
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Cancer genetics P0587. Differential
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Cancer genetics cinoma (ESCC), whic
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Cancer genetics method to measure t
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Cancer genetics pression (compared
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Genetic analysis, linkage, and asso
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Normal variation, population geneti
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Genomics, technology, bioinformatic
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Genetic counselling, education, gen
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Therapy for genetic disease Po10. T
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Therapy for genetic disease P1405.
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Therapy for genetic disease exon 7
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Author Index 1 Arslan-Krichner, M.:
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Author Index Borkowska, A.: P1089 B
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Author Index Coviello, D.: P0078, P
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Author Index Estivill, X.: P1216, P
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Author Index Graf, S. A.: P0021 Gra
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Author Index 1 Josifiova, D.: PL07
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Author Index Laurier, V.: C03 Lauri
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Author Index Melo, D. G.: P0260, P0
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Author Index Osorio, P.: P0218 Osta
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Author Index Reese, T.: C06 Regal,
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Author Index 1 Shaposhnikov, S.: P0
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Author Index Touitou, I.: P0733 Tou
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Author Index Xiao, C.: P1241 Xie, G
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Keyword Index ARMR: P0907 array CGH
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Keyword Index Consanguineous marria
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Keyword Index 1 Fronto-temporal dem
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Keyword Index IRF5: P1086 IRF6: P07
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Keyword Index NBS1 gene: P0567 NBS-
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Keyword Index P1085 Rep1: P1104 rep
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Keyword Index vision: P0632 Vitamin
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Notes 1
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A natural choice in Fabry Disease P
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