2009 Vienna - European Society of Human Genetics

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Clinical genetics and Dysmorphology symptoms, speech, language disability and multiple minor anomalies. P02.105 spondyloepiphyseal dysplasia tarda with progressive arthropathy (sEDt-PA) in siblings A. AlKindy1 , S. Morris1 , G. J. Shortland1 , J. te Water Naude, 1 , A. Cowe2 , M. James-Ellison3 , D. T. Pilz1 ; 1 2 University Hospital Wales, Cardiff, United Kingdom, Singleton Hospital, Swansea, United Kingdom, 3Morriston Hospital, Swansea, United Kingdom. Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA OMIM#208230) also known as Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC) is a very rare autosomal recessive skeletal dysplasia with an estimated incidence of 1per million in the UK. It is characterised by a postnatal progressive chondropathy affecting primarily articular cartilage. Clinically, the condition mimics Juvenile Rheumatoid Arthritis, and the diagnosis is often significantly delayed. We want to raise awareness of this debilitating condition and present 2 siblings from a non-consanguineous family with SEDT-PA diagnosed radiologically. They presented with severe progressive pain and stiffness of the hip joints, waddling gait and rheumatoid- like hands from 3 years of age. Their X-rays showed generalised osteopenia, platyspondyly, narrow joint spaces, metaphyseal widening and flattening of epiphyses. SEDT-PA was confirmed by identifying compound heterozygote mutations in the Wnt1-inducible secreted protein 3 (WISP3) gene. The WISP3 protein is a member of the CCN family (cysteine-rich 61, connective tissue growth factor, Nephroblastoma overexpressed) of secreted proteins that specifically associate with extracellular matrix. CCNs are primarily maintenance proteins that modify cellular responses to environmental factors and stimuli. Absence of WISP3 interferes with normal regulation of postnatal skeletal growth and cartilage homeostasis leading to precocious joint degeneration. The older sibling is on a trial treatment with Bisphosphonates in view of her marked osteopenia. P02.106 Gender affects clinical suspicion of Down syndrome N. V. Kovaleva 1,2 ; 1 St. Petersburg State Pediatric Medical Academy, St. Petersburg, Russian Federation, 2 St. Petersburg Centre for Medical Genetics, St. Petersburg, Russian Federation. Recent study suggested that low male to female ratio (sex ratio, SR) in patients with only clinical diagnosis of Down syndrome (DS) was due to a sex bias in clinical diagnosis (Kovaleva NV, AJHG 69,S4:296). OBJECTIVES: (1) to determine a proportion of misdiagnosed cases among children tested for suspicion of trisomy 21, and (2) to study SR among those not having trisomy 21 according to their age at the genetic investigation. STUDY POPULATION: children referred to cytogenetic testing because of having clinical features resembling DS, born in 1970-2008. RESULTS: Among 1197 children born in 1986-2008, when completeness of cytogenetic confirmation of trisomy 21 had been improving from 86% to about 100%, there were 96 (8%) with normal karyotype (annual rate varied from 0% in 1990 to 19% in 2008). Overall, normal karyotype was diagnosed in 99 newborns (16M/83F, SR=0.19, p0.05). Thus there was a strong female prevalence in misdiagnosed newborns decreasing to about population value of 1.06 when children growing up. CONCLUSION: the data obtained suggest that gender affects clinical suspicion of DS. Since characteristic features allowing suspicion of DS include facial dysmorphism, one may hypothesize sex differences in the normal process of facial cranium ontogenesis during perinatal period. An abnormal condition(s) specific to females might also be implicated in a proportion of the misdiagnosed cases. Data of the follow-up study will be presented. P02.107 A girl with short stature due to SHOX deletion inherited from paternal Y J. Dupont, R. Silveira-Santos, A. Medeira, A. Sousa, M. Ávila, S. Serafim, I. Cordeiro; Hospital Santa Maria, Lisbon, Portugal. Short stature is a frequent disorder for which clinical attention is required during childhood. Short stature homeobox-containing gene (SHOX) is located on the pseudoautosomal region (PAR1) of the short arm of the X and Y chromosomes. SHOX gene haploinsuficiency, due to microdeletions or intragenic mutations, causes a highly variable phenotype, ranging from isolated short stature to Leri-Weill dyscondrosteosis (LWD), while nullizygosity results in Langer mesomelic dysplasia (LMD). We described the clinical and cytogenetic findings of a familial case of SHOX haploinsuficiency due to a microdeletion inherited by an unusual mechanism. The proband, a six-year old girl, was referred to our clinic for growth failure. On physical examination she presented disproportionate short stature with mesomelic shortening of the limbs and appearance of muscular hypertrophy. There were no dysmorphic features, except relative macrocephaly and high arched palate. X-rays of the forearms showed no evidence of Madelung deformity. Endocrine studies and karyotype were normal. Fluorescence in situ hybridization (FISH), using a SHOX probe, revealed a microdeletion on one of the X chromosomes in the girl - 46,XX.ish del(X)(p22.3p22.3)(SHOX−)pat -, and on the Y chromosome in her father - 46,XY.ish del(Y)(p11.3p11. 3)(SHOX−) -, who also shared similar features. These results suggest a prior meiotic recombination event on the father to account for the transfer of the deleted SHOX gene to the alternate sex chromosome. Only three cases of inherited SHOX deletions by the same mechanism have been reported. The recognition of the etiology of short stature in this family allowed an adequate genetic counseling. P02.108 silver-Russell syndrome: a case report C. Vincent-Delorme 1 , S. Rossignol 2 , M. Holder-Espinasse 3 , O. Boute-Bénéjean 3 , A. Coeslier-Dieux 3 , F. Petit 3 , S. Manouvrier-Hanu 3 , I. Netchine 2 ; 1 Service de Génétique Clinique CHRU Lille. UF de Génétique CH Arras. Centre de Référence Maladies Rares pour les Syndromes Malformatifs et Anomalies du Développement Nord de France, Lille, France, 2 Biologie Moléculaire Endocrinienne. Centre de Référence des Maladies Endocriniennes Rares de la Croissance. Hôpital Trousseau (APHP), Paris, France, 3 Service de Génétique Clinique CHRU Lille. Centre de Référence Maladies Rares pour les Syndromes Malformatifs et Anomalies du Développement Nord de France, Lille, France. We report on a 33 years old male, with moderate adult Silver-Russell syndrome presentation. He was born at 41 weeks of gestation by spontaneous delivery with intrauterine growth retardation. Birth length was 46cm (-2 SDS), birth weight was 2200g (-3.5 SDS), and occipitofrontal circunference was 35cm (+1SDS). At 1 month he was suspected to develop hydrocephalus and at 1 year, because of prominent skin scalp vessels and systolic murmur, he was thought to present cerebral vascular malformation. Additional investigations were all normal. At 12 years, ultrasonography and skeletal x-rays showed asymmetric kidneys and delayed bone age. He grew up without feeding difficulties (BMI= -2 SDS at 2 years old) and did not receive growth hormone therapy; he demonstrated excessive sweating during childhood. Now, at 33 years old, his final height is152cm (-3.5 SDS) and he presents a slight lower limbs asymmetry, relative macrocephaly (+1.5 SDS), bilateral fifth finger clinodactyly, and triangular face. Methylation analysis of the 11p15 ICR1 region was performed and indicated loss of methylation, leading to biallelic expression of H19 and loss of expression of IGF2. We would like to emphasize the relative good clinical evolution of this male patient without hormonotherapy, nor feeding enteral requirement eventhough his short stature is a real socio-professional disability which is not enough recognized by the institutions. We speculate that given the difficulty of assessing this diagnosis especially in adults, this syndrome must be underdiagnosed until molecular analysis is performed. P02.109 A family with spinocerebellar ataxia type 8, Friedreich‘s ataxia and Hemoglobine s F. Koc 1 , A. Nazli Basak 2 ; 1 Cukurova University School of Medicine, Department of Neurology, Adana, Turkey, 2 Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey. Spinocerebellar ataxias (SCA) are is a heredodegenerative disease. It is classified according to the clinical signs, affected neuroanatomical regions and genetic features. SCA type 8 is characterized by gait and limb ataxia, dysarthria, nystagmus, pyramidal findings and decreased
Clinical genetics and Dysmorphology deep sensation. SCA 8 is caused by an expanded (CTG) trinucleotide repeat on the chromosome 13. Friedreich’s ataxia (FRDA), the most common subtype of early onset hereditary (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. Clinical findings are characterized by neurologic signals and symptoms of the dorsal root ganglia, the posterior columns, and pyramidal and spinocerebellar tracts Here we reported a family who was affected by SCA 8, FRDA and Hemoglobine S. Gait ataxia was the first symptom in index cases, followed by dysarthria, weaknes in lower distal limbs and decreased deep sensation and deep tendon reflexes respectively. Cerebral MRI showed pure cerebellar atrophy in patient. An spinocerebellar ataxia and HbS were diagnosis on the virtue of family history, neurological examination and laboratory and genetics studies. Genetic studies disclosed a mutation on the SCA 8 locus and FRDA. Index case was homozygot for FRDA (675/775), his morther (normal/775) and father were heterozygot, (normal/675). In additionaly we determined HbS trait in some person in family. Spinocerebellary ataxias are a group of disorders classified according to associating clinical signs and symptoms. To the best of our knowledge, this unusual finding has not been reported previously in the literature. P02.110 tongue anomalies in clinical genetics evaluation - iasi medical genetics center’s experience E. Braha, C. Rusu, M. Volosciuc, M. Covic; University of Medicine and Pharmacy, Iasi, Romania. Traditionally the oral area receives minimal emphasis in the medical examination. Tongue birth defects are among the most common anomalies and require a careful clinical evaluation. The purpose of this study is to facilitate the clinical diagnosis of a syndrome with tongue anomaly. We selected 16 patients (8 boys and 8 girls) from the total patients evaluated in Iasi medical genetics centre during 5 years (2000 - 2004, 8615 patients). We studied all tongue anomalies according dysmophic terms defined by Carey JC et al, 2009. We selected those anomalies with a high power to suggest the diagnosis (evocative anomalies): macroglossia, lobulated tongue, microglossia/ hypoglossia; bifid tongue, asymmetric tongue, tongue fasciculation. We observe the preponderance of following traits: macroglossia (10 cases - 62.5%), Microglossia (2), Lobulated tongue (1), bifid tongue (1), asymmetric tongue (1), tongue fasciculation (1). The syndromes diagnosed were: congenital hypothyroidism (7 cases), Down syndrome (1), hypoglossia-hypodactylia spectrum (3), MEN IIB (1), Opitz G/BBB (1), Werdnig Hoffmann (1) and multiple anomalies (2). The tongue anomalies were diagnosed after 2 months age old because of the tongue role in mastication, deglutition, speech etc. The small number of cases could be explained by the low frequency of the anomalies or by messing the diagnosis owing to a facile clinical evaluation. For accurate assessment, correct diagnosis, and management, the patients should be dealt with in a team approach. When the genetic tests are budget limited a clinical proper diagnosis is essential to initiate the correct treatment and genetic counseling. P02.111 Tracheoesophageal fistula is not significantly associated with intestinal malrotation - a study based on the Glasgow Register of congenital Anomalies and NorcAs database S. K. Munir; Western Infirmary (NHS Greater Glasgow & Clyde), Glasgow, United Kingdom. Numerous and large epidemiological studies have been undertaken of tracheoesophageal fistula (TOF). Only a single study has been published specifically looking at the epidemiology of intestinal malrotation (Forrester and Merz,2003). The Glasgow Register of Congenital Anomalies was used to study anomalies associated with cases of intestinal malrotation in babies born between 1997 and 2005 (30 cases, 15 syndromic) in Glasgow,UK, and findings were compared with a previous study (157 cases, 70 syndromic) (Munir S, Muneer A, Intestinal malrotation and Hedgehog signaling defects - an epidemiologic study based on the NorCAS database and London Dysmorphology Database.[Abstract 631]. Presented at the annual meeting of the American Society of Human Genetics, Oct 26,2007). Only 2 cases of TOF (2.8%) were seen in the NorCAS study and none in the current study or in Forrester and Merz’s study. Moreover, while 17 cases (27%) of syndromic malrotation in the NorCAS study had features of VACTERL, and 2 cases (13%) in the current study, and 2 cases in Forrester and Merz’s study, none of them exhibited TOF. Mutant mouse models with Hedgehog signaling defects exhibit intestinal malrotation and features of VACTERL, including TOF. Whilst it has yet to be seen whether and what proportion of humans with malrotation and VACTERL have Hedgehog signaling defects, the striking absence of TOF from VACTERL in cases of syndromic intestinal malrotation as seen in these studies, and virtual absence of TOF in known hedgehogopathies such as Pallister-Hall Syndrome, merits further investigation for differences between hedgehog signaling in mice and humans. P02.112 Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder M. S. Zaki 1 , H. H. Afifi 1 , A. J. Barkovich 2 , J. G. Gleeson 3 ; 1 National Research Centre, Cairo, Egypt, 2 (2) Section of Neuroradiology, Department of Radiology, University of California, San Francisco, CA, United States, 3 (3) Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, CA, United States. We identified 2 female siblings, derived from healthy first cousin parents, with congenital unilateral cerebral ventriculomegaly detected prenatally. Patient 1 underwent ventriculoperitoneal shunt operation at 1 week old, while patient 2 was followed without surgical intervention. Both patients presented with mild developmental delay and hemiparesis contralateral to the involved hemisphere. Focal seizures were observed in patient 1, whose neuroimaging revealed posterior insular polymicrogyria in the normal sized ventricle hemisphere and retrocerebellar cyst. Both siblings displayed near absence of white matter with marked thinning of the overlying cortex in the affected hemisphere and very thin corpus callosum. Investigations revealed no other system involvement and karyotyping was normal. Normal TORCH screening in subsequent pregnancies, normal parental coagulation profile and undetectable maternal autoantibodies suggested against the possible role of extrinsic factors as an etiological factor for unilateral ventriculomegaly. Parents had normal brain imaging findings. To our knowledge, unilateral ventriculomegaly has never been reported with familial clustering. We suggest delineation of a distinct developmental brain defect, most likely of autosomal recessive inheritance. P02.113 clinicil genetic analysis of non system vasculitis of small vessels in children. E. Voronina 1 , N. Sokolova 2 , L. Zhukova 1 , M. Bogdanova 3 , V. Chasnyk 1 , A. Harchev 1 , V. Larionova 3 ; 1 St. Petersburg State Pediatric Medical Academy, St. Petersburg, Russian Federation., St. Petersburg, Russian Federation, 2 Children municipal hospital N 1, St. Petersburg, Russian Federation., St. Petersburg, Russian Federation, 3 Laboratory of molecular diagnostics of the Research Center at St. Petersburg State Pediatric Medical Academy, St. Petersburg, Russian Federation., St. Petersburg, Russian Federation. Currently there are no any known specific markers for differential diagnostics of the majority of vasculites. Objective: to identify the most informative traits, with the aim to facilitate classification in two groups vasculites of small vessels in children. Patients And Methods: 80 children with vasculites of small vessels aged from 3 to 17 years. Among them, 46 patients suffered from system vasculitis (purples of Shenlejna-Genoh, PSG) and 34 suffered from non system vasculitis (purples of Schamberg, PS). Control group included 144 healthy individuals. Diagnoses were verified by clinical, laboratory and morphological methods (skin biopsy). 4a/4b, T-786C, G894T polymorphisms of the gene of endothelial NO synthase (eNOS) were studied by standard methods. Results: Two distinct forms of PS were identified: sharp cyclic clinical course in 12 patients (36 %) and chronic recurrent course in 22 patients (64 %). Hemosiderin in skin biopsy was found in 5 patients with the sharp course of the disease and in 6 patients with the chronic form of PS. aa genotype of 4a/4b polymorphism was found more often in patients with
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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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Page 47 and 48: Genetic counseling Genetics educati
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Page 105 and 106: Cytogenetics P03. cytogenetics Recu
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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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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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