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152 results on '"Rossier E"'

6. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Author

Seifert, W, Holder-Espinasse, M, Spranger, S, Hoeltzenbein, M, Rossier, E, Dollfus, H, Lacombe, D, Verloes, A, Chrzanowska, K H, Maegawa, G H B, Chitayat, D, Kotzot, D, Huhle, D, Meinecke, P, Albrecht, B, Mathijssen, I, Leheup, B, Raile, K, Hennies, H C, and Horn, D

Published
2006

11. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Author

Acuna Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C.F., Graham, S.A., Dam, S van, Hoover-Fong, J., Telegrafi, A.B., Destree, A., Smigiel, R., Lambie, L.A., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, M.L., Aracena, M., Nur, B.G., Mihci, E., Moreira, L.M., Borges Ferreira, V., Horovitz, D.D., Rocha, K.M., Jezela-Stanek, A., Brooks, A.S., Reutter, H., Cohen, J.S., Fatemi, A., Smitka, M., Grebe, T.A., Donato, N. Di, Deshpande, C., Vandersteen, A., Lourenco, C., Dufke, A., Rossier, E., Andre, G., Baumer, A., Spencer, C., McGaughran, J., Franke, L., Veltman, J.A., Vries, B.B. de, Schinzel, A., Fisher, S.E., Hoischen, A., Bon, B.W.M. van, Acuna Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C.F., Graham, S.A., Dam, S van, Hoover-Fong, J., Telegrafi, A.B., Destree, A., Smigiel, R., Lambie, L.A., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, M.L., Aracena, M., Nur, B.G., Mihci, E., Moreira, L.M., Borges Ferreira, V., Horovitz, D.D., Rocha, K.M., Jezela-Stanek, A., Brooks, A.S., Reutter, H., Cohen, J.S., Fatemi, A., Smitka, M., Grebe, T.A., Donato, N. Di, Deshpande, C., Vandersteen, A., Lourenco, C., Dufke, A., Rossier, E., Andre, G., Baumer, A., Spencer, C., McGaughran, J., Franke, L., Veltman, J.A., Vries, B.B. de, Schinzel, A., Fisher, S.E., Hoischen, A., and Bon, B.W.M. van

Abstract

Contains fulltext : 174787.pdf (publisher's version ) (Open Access), Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype.

Published
2017

12. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Author

Acuna-Hidalgo, R. (Rocio), Deriziotis, P. (Pelagia), Steehouwer, M. (Marloes), Gilissen, C. (Christian), Graham, S.A. (Sarah A.), van Dam, S. (Sipko), Hoover-Fong, J. (Julie), Telegrafi, A.B. (Aida B.), Destrée, A. (Anne), Smigiel, R. (Robert), Lambie, L.A. (Lindsday A.), Kayserili, H. (Hülya), Altunoglu, U. (Umut), Lapi, E. (Elisabetta), Uzielli, M.L. (Maria Luisa), Aracena, M. (Mariana), Nur, B.G. (Banu G.), Mihci, E. (Ercan), Moreira, L.M.A. (Lilia M. A.), Borges Ferreira, V. (Viviane), Horovitz, D.D.G. (Dafne D. G.), da Rocha, K.M. (Katia M.), Jezela-Stanek, A. (Aleksandra), Brooks, A.S. (Alice), Reutter, H. (Heiko), Cohen, J.S. (Julie S.), Fatemi, A. (Ali), Smitka, M. (Martin), Grebe, T.A. (Theresa A.), Di Donato, N. (Nataliya), Deshpande, C. (Charu), Vandersteen, A.M. (Anthony M.), Marques Lourenço, C. (Charles), Dufke, A. (Andreas), Rossier, E. (Eva), Andre, G. (Gwenaelle), Baumer, A. (Alessandra), Spencer, C. (Careni), McGaughran, J., Franke, L. (Lude), Veltman, J.A. (Joris), Vries, B. (Boukje) de, Schinzel, A. (Albert), Fisher, S.E. (Simon), Hoischen, A. (Alex), Bon, B. (Bregje) van, Acuna-Hidalgo, R. (Rocio), Deriziotis, P. (Pelagia), Steehouwer, M. (Marloes), Gilissen, C. (Christian), Graham, S.A. (Sarah A.), van Dam, S. (Sipko), Hoover-Fong, J. (Julie), Telegrafi, A.B. (Aida B.), Destrée, A. (Anne), Smigiel, R. (Robert), Lambie, L.A. (Lindsday A.), Kayserili, H. (Hülya), Altunoglu, U. (Umut), Lapi, E. (Elisabetta), Uzielli, M.L. (Maria Luisa), Aracena, M. (Mariana), Nur, B.G. (Banu G.), Mihci, E. (Ercan), Moreira, L.M.A. (Lilia M. A.), Borges Ferreira, V. (Viviane), Horovitz, D.D.G. (Dafne D. G.), da Rocha, K.M. (Katia M.), Jezela-Stanek, A. (Aleksandra), Brooks, A.S. (Alice), Reutter, H. (Heiko), Cohen, J.S. (Julie S.), Fatemi, A. (Ali), Smitka, M. (Martin), Grebe, T.A. (Theresa A.), Di Donato, N. (Nataliya), Deshpande, C. (Charu), Vandersteen, A.M. (Anthony M.), Marques Lourenço, C. (Charles), Dufke, A. (Andreas), Rossier, E. (Eva), Andre, G. (Gwenaelle), Baumer, A. (Alessandra), Spencer, C. (Careni), McGaughran, J., Franke, L. (Lude), Veltman, J.A. (Joris), Vries, B. (Boukje) de, Schinzel, A. (Albert), Fisher, S.E. (Simon), Hoischen, A. (Alex), and Bon, B. (Bregje) van

Abstract

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype.

Published
2017
Full Text
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13. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Author

Acuna-Hidalgo, R, Deriziotis, P, Steehouwer, M, Gilissen, C, Graham, SA, van Dam, S, Hoover-Fong, J, Telegrafi, AB, Destree, A, Smigiel, R, Lambie, LA, Kayserili, H, Altunoglu, U, Lapi, E, Uzielli, ML, Aracena, M, Nur, BG, Mihci, E, Moreira, LMA, Ferreira, VB, Horovitz, D D G, da Rocha, KM, Jezela-Stanek, A, Brooks, Alice, Reutter, H, Cohen, JS, Fatemi, A, Smitka, M, Grebe, TA, Di Donato, N, Deshpande, C, Vandersteen, A, Lourenco, CM, Dufke, A, Rossier, E, Andre, G, Baumer, A, Spencer, C, McGaughran, J, Franke, L, Veltman, JA, de Vries, BBA, Schinzel, A, Fisher, SE, Hoischen, A, van Bon, BW, Acuna-Hidalgo, R, Deriziotis, P, Steehouwer, M, Gilissen, C, Graham, SA, van Dam, S, Hoover-Fong, J, Telegrafi, AB, Destree, A, Smigiel, R, Lambie, LA, Kayserili, H, Altunoglu, U, Lapi, E, Uzielli, ML, Aracena, M, Nur, BG, Mihci, E, Moreira, LMA, Ferreira, VB, Horovitz, D D G, da Rocha, KM, Jezela-Stanek, A, Brooks, Alice, Reutter, H, Cohen, JS, Fatemi, A, Smitka, M, Grebe, TA, Di Donato, N, Deshpande, C, Vandersteen, A, Lourenco, CM, Dufke, A, Rossier, E, Andre, G, Baumer, A, Spencer, C, McGaughran, J, Franke, L, Veltman, JA, de Vries, BBA, Schinzel, A, Fisher, SE, Hoischen, A, and van Bon, BW

Published
2017

17. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Author

Mignot, C., von Stulpnage, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Uluc, Yis, Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C., Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hortnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., Craiu, D., De Jonghe, P., Helbig, I., Guerrini, R., Lehesjoki, A. -E., Marini, C., Muhle, H., Moller, R. S., Neubauer, B., Pal, D., Selmer, K., Stephani, U., Sterbova, K., Striano, P., Talvik, T., von Spiczak, S., Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie Pédiatrique [CHU Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique [HCL Groupement Hospitalier Est], Groupement hospitalier Lyon-Est, Université de Lyon, Klinikum Oldenburg [Oldenburg], Zentrum für Kinder- und Jugendmedizin, Dpt of Pediatric Neurology and Developmental Medicine and Epilepsy Center [Munich], University of Munich, Department of Medical Genetics, Institute of Mother and Child, Division of Child Neurology, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Dpt of Molecular Biology and Genetics Istanbul, Boǧaziçi üniversitesi = Boğaziçi University [Istanbul], Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Epilepsie, sommeil et explorations fonctionnelles neuropédiatriques, Hospices Civils de Lyon (HCL)-Hôpital Femme Mère Enfant, Dpt de l'Enfant et de l'Adolescent, Neuropédiatrie [Genève], Hôpitaux Universitaires de Genève (HUG), Institute of Human Genetics [Tuebingen], University of Tuebingen, Institute of Medical Genetics and Applied Genomics [Tübingen], University of Tübingen, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Svt. Luka's Institute of Child Neurology and Epilepsy, Department of Clinical and Experimental Epilepsy, University College of London [London] (UCL), Genetikum, Neurogenetics Group, Division of Genetic Medicine [Seattle], University of Washington [Seattle], CeGaT GmbH, Institut für Humangenetik, Universität Heidelberg [Heidelberg], Mignot, Cyril, von Stülpnagel, Celina, Korff, Christian, EuroEPINOMICS-RES MAE Working Grp, HAL-UPMC, Gestionnaire, Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Groupement Hospitalier Lyon-Est (GHE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Boğaziçi University [Istanbul], CHU Trousseau [APHP], and Universität Heidelberg [Heidelberg] = Heidelberg University

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, Encephalopathy, Myoclonic Jerk, SYNGAP1, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, fluids and secretions, Medizinische Fakultät, Intellectual disability, mental disorders, Genetics, medicine, ddc:610, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Exome, Genetics (clinical), reproductive and urinary physiology, ddc:618, business.industry, medicine.disease, Hypotonia, 3. Good health, 030104 developmental biology, Autism, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Mae Euroepinomics-Res Mae; International audience; Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.Methods We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on developmental aspects and the associated epilepsy phenotype. A review of SYNGAP1 mutations published in the literature was also performed.Results We describe 17 unrelated affected individuals carrying 13 different novel loss-of-function SYNGAP1 mutations. Developmental delay was the first manifestation of SYNGAP1-related encephalopathy; intellectual disability became progressively obvious and was associated with autistic behaviours in eight patients. Hypotonia and unstable gait were frequent associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3′ and 5′ exons. Seizures in patients with mutations in exons 4–5 were more pharmacoresponsive than in patients with mutations in exons 8–15.Conclusions SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers.

Published
2016
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19. Novel SLC9A6 mutations in two families with Christianson syndrome.

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Riess, A., Rossier, E., Krüger, Rejko, Dufke, A., Beck-Woedl, S., Horber, V., Alber, M., Glaser, D., Riess, O., Tzschach, A., Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Riess, A., Rossier, E., Krüger, Rejko, Dufke, A., Beck-Woedl, S., Horber, V., Alber, M., Glaser, D., Riess, O., and Tzschach, A.

Published
2013

20. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Author

Schulz, A.L., Albrecht, B., Arici, C., Burgt, I. van der, Buske, A., Gillessen-Kaesbach, G., Heller, R., Horn, D., Hubner, C.A., Korenke, C.G., Konig, R., Kress, W., Kruger, G., Meinecke, P., Mucke, J., Plecko, B., Rossier, E., Schinzel, A., Schulze, A., Seemanova, E., Seidel, H., Spranger, S., Tuysuz, B., Uhrig, S., Wieczorek, D., Kutsche, K., Zenker, M., Schulz, A.L., Albrecht, B., Arici, C., Burgt, I. van der, Buske, A., Gillessen-Kaesbach, G., Heller, R., Horn, D., Hubner, C.A., Korenke, C.G., Konig, R., Kress, W., Kruger, G., Meinecke, P., Mucke, J., Plecko, B., Rossier, E., Schinzel, A., Schulze, A., Seemanova, E., Seidel, H., Spranger, S., Tuysuz, B., Uhrig, S., Wieczorek, D., Kutsche, K., and Zenker, M.

Abstract

Contains fulltext : 70780.pdf (publisher's version ) (Closed access), Cardio-facio-cutaneous (CFC) and Costello syndrome (CS) are congenital disorders with a significant clinical overlap. The recent discovery of heterozygous mutations in genes encoding components of the RAS-RAF-MAPK pathway in both CFC and CS suggested a similar underlying pathogenesis of these two disorders. While CFC is heterogeneous with mutations in BRAF, MAP2K1, MAP2K2 and KRAS, HRAS alterations are almost exclusively associated with CS. We carried out a comprehensive mutation analysis in 51 CFC-affected patients and 31 individuals with CS. Twelve different BRAF alterations were found in twenty-four patients with CFC (47.0%), two MAP2K1 mutations in five (9.8%) and two MAP2K2 sequence variations in three CFC-affected individuals (5.9%), whereas three patients had a KRAS alteration (5.9%). We identified four different missense mutations of HRAS in twenty-eight cases with CS (90.3%), while KRAS mutations were detected in two infants with a phenotype meeting criteria for CS (6.5%). In 14 informative families, we traced the parental origin of HRAS alterations and demonstrated inheritance of the mutated allele exclusively from the father, further confirming a paternal bias in the parental origin of HRAS mutations in CS. Careful clinical evaluation of patients with BRAF and MAP2K1/2 alterations revealed the presence of slight phenotypic differences regarding craniofacial features in MAP2K1- and MAP2K2-mutation positive individuals, suggesting possible genotype-phenotype correlations.

Published
2008

23. Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

Author

Schulz, AL, primary, Albrecht, B, additional, Arici, C, additional, Van Der Burgt, I, additional, Buske, A, additional, Gillessen‐Kaesbach, G, additional, Heller, R, additional, Horn, D, additional, Hübner, CA, additional, Korenke, GC, additional, König, R, additional, Kress, W, additional, Krüger, G, additional, Meinecke, P, additional, Mücke, J, additional, Plecko, B, additional, Rossier, E, additional, Schinzel, A, additional, Schulze, A, additional, Seemanova, E, additional, Seidel, H, additional, Spranger, S, additional, Tuysuz, B, additional, Uhrig, S, additional, Wieczorek, D, additional, Kutsche, K, additional, and Zenker, M, additional

Published
2007
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26. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-Hydroxybutyric Aciduria): case reports of 23 new patients

Author

Gibson, K.M., Christensen, E., Jakobs, C., Fowler, B., Clarke, M.A., Hammersen, G., Raab, K., Kobori, J., Moosa, A., Vollmer, B., Rossier, E., Kimberly Iafolla, A., Matern, D., Brouwer, O.F., Finkelstein, J., Aksu, F., Weber, H.-P., Bakkeren, J.A.J.M., Gabreëls, F.J.M., Bluestone, D., Barron, T.F., Beauvais, P., Rabier, D., Santos, C.R., Umansky, R., Lehnert, W., Gibson, K.M., Christensen, E., Jakobs, C., Fowler, B., Clarke, M.A., Hammersen, G., Raab, K., Kobori, J., Moosa, A., Vollmer, B., Rossier, E., Kimberly Iafolla, A., Matern, D., Brouwer, O.F., Finkelstein, J., Aksu, F., Weber, H.-P., Bakkeren, J.A.J.M., Gabreëls, F.J.M., Bluestone, D., Barron, T.F., Beauvais, P., Rabier, D., Santos, C.R., Umansky, R., and Lehnert, W.

Abstract

Contains fulltext : 25009___.PDF (publisher's version ) (Open Access)

Published
1997

29. Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 → q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay

Author

Barbi, G., Spaich, Ch., Adolph, S., Rossier, E., and Kehrer‐Sawatzki, H.

Abstract

We report on a 5.5‐year‐old girl with dysmorphic features and psychomotoric developmental delay with a mitotically stable supernumerary marker chromosome. The origin of the marker was identified by microdissection and reverse painting of marker DNA as the pericentromeric region of chromosome 1. Fine mapping by FISH with selected YAC or BAC clones identified no p‐arm material on the marker. The marker has retained its original centromere and euchromatin from 1q21.1‐q21.3 but only small remnants of the 1q12 heterochromatin. Furthermore, some FISH clones presented single signals on the marker and others presented double signals indicating a partial duplication within the marker. These observations suggest a multi‐step origin of the marker most probably with ring formation as the first step. © 2005 Wiley‐Liss, Inc.

Published
2005
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32. Studies on the immunogenicity of virus-infected lymphocytes for the production of antilymphocyte serum

Author

Rossier E

Subjects
Human lymphocyte, Immunochemistry, Immunogenicity, Immunology, General Medicine, Biology, Cytotoxicity Tests, Immunologic, biology.organism_classification, Applied Microbiology and Biotechnology, Microbiology, Virology, Vesicular stomatitis Indiana virus, Virus, Cell Line, Neutralization Tests, Vesicular stomatitis virus, Genetics, Animals, Humans, Lymphocytes, Rabbits, Molecular Biology, Cells, Cultured, Antilymphocyte Serum
Abstract

The possibility of enhancing the immunogenicity of human lymphoid cells by infection with vesicular stomatitis virus (V.S.V.) was investigated. V.S.V. infected, purified peripheral human lymphocytes, as well as lymphoblastic cells from the R.P.M.I. series 1788 and 7249, were used to raise antilymphocyte sera in rabbits. The sera were then tested for cytotoxicity and viral neutralization.As compared with uninfected, control lymphoid cells, V.S.V. infection did not enhance the immunogenicity of either type of lymphoid cells. Furthermore, there was no correlation between cytotoxicity and neutralization titers.

Published
1973
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33. Comparison of immunoblotting with other serological methods and virus isolation for the early detection of primary cytomegalovirus infection in allograft recipients

Author

Miller, H, McCulloch, B, Landini, M P, and Rossier, E

Abstract

Sequential specimens from nine allograft recipients were examined by using a variety of methods to detect primary cytomegalovirus (CMV) infection as rapidly as possible posttransplantation. Sera were examined for immunoglobulin G (IgG) and IgM antibodies by immunoblotting, enzyme immunoassay, and immunofluorescence and also by complement fixation, latex agglutination, and an immunofluorescence test for antibody to CMV early antigen. Urine and occasionally blood, tissue, and other specimens were centrifuged onto cell cultures to enhance CMV infectivity. Eight of the nine patients showed laboratory evidence of primary CMV infection, and CMV was isolated from seven of the eight: in no case was virus isolated before seroconversion had become evident. However, serological tests differed in their abilities to detect antibody response to CMV infection in different patients; while immunoblotting, latex agglutination, and enzyme immunoassay for IgG antibodies generally detected seroconversion before complement fixation, this was not invariably the case. At present, optimal laboratory detection of CMV infections in these patients can be achieved only by a combination of serological methods and virus isolation.

Published
1989
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34. Comparison of five methods of cytomegalovirus antibody screening of blood donors

Author

Phipps, P H, Grégoire, L, Rossier, E, and Perry, E

Abstract

A group of 120 sera from blood donors was screened by complement fixation and commercially available immunofluorescence, solid-phase fluorescence immunoassay, enzyme-linked immunosorbent assay, and indirect hemagglutination tests. Twenty-four of the sera were positive by three or more of the five tests and judged to be true positives; 89 were negative by three or more of the tests and considered to be true negatives. The tests were ranked for accuracy, sensitivity, specificity, false-positive rate, and false-negative rate. The indirect hemagglutination test scored best, followed by enzyme-linked immunosorbent assay, solid-phase fluorescence immunoassay, complement fixation, and immunofluorescence, in that order. When the tests were ranked on the basis of technical demands, turnaround time, requirement for special equipment, and subjectivity in reading, the indirect hemagglutination test again scored best, followed by solid-phase fluorescence immunoassay, enzyme-linked immunosorbent assay, immunofluorescence, and complement fixation in that order. Our findings suggest that the indirect hemagglutination test is the most reliable and effective commercially available test for the identification of those donors who are very unlikely to transmit cytomegalovirus to recipients.

Published
1983
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35. Microcarriers in combination with enzyme immunofiltration and immunofluroescence for the detection of herpes simplex virus antigens in culture

Author

Rossier, E, Scalia, V, Phipps, P H, Kennedy, D A, and Brodeur, B

Abstract

A microcarrier culture system in combination with enzyme immunofiltration with a herpes simplex virus (HSV) group monoclonal antibody was found to be as sensitive as immunofluorescence for the detection of HSV type 1 (HSV-1) in cell cultures and to give specific identification at the same time as the appearance of the cytopathic effect with very high infectious inocula and within 10 to 24 h of the appearance of the cytopathic effect with very high infectious inocula and within 10 to 24 h of the appearance of the cytopathic effect with low to high inocula. Multiplicities of infection from 10(-5) to 10(1) were tested at 8 to 96 h postinfection. When applied to the identification of HSV-1 and HSV-2 in cultures of clinical samples, the system detected HSV antigens in 50% of the samples after 2 days and in 100% of the samples after 3 days. With 2 ml of microcarrier suspension and with 50 to 300 microliter per sample, several portions are available for replicate and sequential sampling without destroying the culture. The system requires only that 2 X 10(5) microcarriers be added to the culture tube at the time or before it is seeded with cells, at an extra cost of 6 cents (U.S.) per tube and little extra labor.

Published
1985
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36. Mycoplasma pneumoniae infections in a rural setting in Canada

Author

Dular, R, Lambert, M, Bruce, B W, Phipps, P H, Rossier, E, and Kasatiya, S

Subjects
Adult, Ontario, Rural Population, Adolescent, Child, Preschool, Pneumonia, Mycoplasma, Humans, Seasons, Middle Aged, Child, Research Article, Disease Outbreaks, Mycoplasma pneumoniae
Abstract

Mycoplasma pneumoniae infection was monitored in patients with symptoms of acute respiratory tract infection in a village in southeastern Ontario from April 1983 to April 1984. M. pneumoniae was isolated from 51 (48%) of the 106 patients. The incidence began to increase in May 1983, reached a peak in July and declined to normal by mid-August. During the epidemic period M. pneumoniae was detected in 36 of the 43 symptomatic patients. The most prominent features of the outbreak were the considerable intrafamilial attack rate and the high frequency of pneumonia among infected patients. Treatment with tetracyclines and erythromycin reduced the duration of the illness and accelerated the resolution of symptoms.

Published
1987

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