Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Breckpot, J"'
Autor:
Verheije R; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., Kupchik GS; Division of Medical Genetics, Infants and Children's Hospital of Brooklyn, Maimonides Medical Center, Brooklyn, NY, USA., Isidor B; CHU Nantes, Service de génétique médicale, Nantes, France.; INSERM UMR 1238, Sarcomes osseux et remodelage des tissus calcifiés, Université Bretagne Loire, Nantes, France., Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Lynch SA; Departments of Clinical Genetics, Children's University Hospital Temple Street, Dublin, Ireland., Hawkes L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Spires Cleft Service, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Gelb BD; The Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Ghoumid J; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., D'Amours G; Service de génétique médicale, CHU Sainte-Justine, Département de Pédiatrie, Université de Montréal, Montréal, QC, Canada., Chandler K; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Dubourg C; Laboratoire de Génétique Moléculaire, CHU Pontchaillou, Rennes, France., Loddo S; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy., Tümer Z; Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark., Shaw-Smith C; Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, UK., Nizon M; CHU Nantes, Service de génétique médicale, Nantes, France., Shevell M; Department of Pediatrics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada., Van Hoof E; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA., Cerbone G; Division of Medical Genetics, 'S.G. Moscati' Hospital, Avellino, Italy., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Cogné B; CHU Nantes, Service de génétique médicale, Nantes, France., Corre P; Service de Stomatologie, CHU Nantes, Nantes, France., Corveleyn A; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., De Borre M; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., Hjortshøj TD; Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark., Fradin M; Service de Génétique Médicale, Centre de Reference Anomalies du Développement, CHU Rennes, Rennes, France., Gewillig M; Pediatric and Congenital Cardiology, UZ Leuven, Leuven, Belgium., Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hens G; Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium., Lemyre E; Service de génétique médicale, CHU Sainte-Justine, Département de Pédiatrie, Université de Montréal, Montréal, QC, Canada., Journel H; Service de Génétique Médicale, Centre de Reference Anomalies du Développement, CHU Rennes, Rennes, France., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Spires Cleft Service, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Le Caignec C; CHU Nantes, Service de génétique médicale, Nantes, France.; INSERM UMR 1238, Sarcomes osseux et remodelage des tissus calcifiés, Université Bretagne Loire, Nantes, France., Novelli A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy., Odent S; Service de Génétique Médicale, Centre de Reference Anomalies du Développement, CHU Rennes, Rennes, France., Petit F; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Strom TM; Institute for Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute for Human Genetics, Technische Universitat Munchen, Munich, Germany., van Binsbergen E; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Devriendt K; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., Breckpot J; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium. Jeroen.Breckpot@uzleuven.be.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Feb; Vol. 27 (2), pp. 278-290. Date of Electronic Publication: 2018 Oct 05.
Autor:
Breckpot J; Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium., Anderlid BM; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey., Blyth M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK., Brahimi A; Centre de Génétique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France., Duban-Bedu B; Centre de Génétique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France., Gozé O; Service Pédiatrie, Centre Hospitalier de Valenciennes, Valenciennes, France., Firth H; Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Yakicier MC; Department of Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey., Hens G; ENT Department, University Hospitals Leuven, Leuven, Belgium., Rayyan M; Neonatology Unit, University Hospitals Leuven, Leuven, Belgium., Legius E; Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium., Vermeesch JR; Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium., Devriendt K; Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Jan; Vol. 24 (1), pp. 51-8. Date of Electronic Publication: 2015 May 06.
Autor:
Herman SB; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA., Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2012 Nov; Vol. 158A (11), pp. 2781-7. Date of Electronic Publication: 2012 Oct 03.
Autor:
Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.
Publikováno v:
Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, ' Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability ', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290 . https://doi.org/10.1038/s41431-018-0281-5
European Journal of Human Genetics, 27(2), 278. Nature Publishing Group
Eur. J. Hum. Genet. 27, 278-290 (2019)
European Journal of Human Genetics, 27(2), 278. Nature Publishing Group
Eur. J. Hum. Genet. 27, 278-290 (2019)
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2579d855b96e7c1ca9b154f65da5fdce
https://europepmc.org/articles/PMC6336847/
https://europepmc.org/articles/PMC6336847/