Zobrazeno 1 - 10
of 2 984
pro vyhledávání: '"Scambler, PJ"'
Autor:
van Haelst, M.M., Maiburg, M., Baujat, G., Jadeja, S., Monti, E., Bland, E., Pearce, K., Hennekam, R.C., Scambler, P.J.
Publikováno v:
American Journal of Medical Genetics. Part A; September 2008, Vol. 146 Issue: 17 p2252-2257, 6p
Publikováno v:
American Journal of Medical Genetics. Part A; December 2007, Vol. 143 Issue: 24 p3194-3203, 10p
Autor:
Dykes IM; Liverpool John Moores University, Byrom St, Liverpool L3 3AF, United Kingdom. Electronic address: i.m.dykes@ljmu.ac.uk., van Bueren KL; Institute of Child Health, University College London, 30 Guilford St, London WC1N 1EH, United Kingdom., Scambler PJ; Institute of Child Health, University College London, 30 Guilford St, London WC1N 1EH, United Kingdom.
Publikováno v:
Journal of molecular and cellular cardiology [J Mol Cell Cardiol] 2023 Oct; Vol. 183, pp. 102. Date of Electronic Publication: 2023 Jul 28.
Autor:
Stathopoulou A; Developmental Biology of Birth Defects, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Wang P; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.; School of Medical Imaging, Tianjin Medical University, Tianjin, China., Thellier C; Aix-Marseille University, CNRS UMR 7288, IBDM, Marseille, France., Kelly RG; Aix-Marseille University, CNRS UMR 7288, IBDM, Marseille, France., Zheng D; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.; Departments of Neurology and Neurosciences, Albert Einstein College of Medicine, Bronx, NY, USA., Scambler PJ; Developmental Biology of Birth Defects, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Publikováno v:
Cardiovascular research [Cardiovasc Res] 2023 Sep 05; Vol. 119 (11), pp. 2089-2105.
Autor:
Cai A; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Ye G; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Placier S; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Frère P; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Surin B; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Vandermeersch S; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Kormann R; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Xu-Dubois YC; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Genest M; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Lannoy M; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Chadjichristos CE; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Dussaule JC; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Scambler PJ; UCL Great Ormond Street Institute of Child Health, London, UK., Chatziantoniou C; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France., Calmont A; Sorbonne Université, INSERM, Unité mixte de Recherche 1155, Kidney Research Centre, AP-HP, Hôpital Tenon, Paris, France. Electronic address: amelie.calmont@inserm.fr.
Publikováno v:
Kidney international [Kidney Int] 2022 Apr; Vol. 101 (4), pp. 720-732. Date of Electronic Publication: 2022 Jan 26.
Autor:
Ridge LA; Developmental Biology of Birth Defects, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Kewbank D; Developmental Biology of Birth Defects, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Schütz D; Institute of Pharmacology and Toxicology, Jena University Hospital, Friedrich Schiller University Jena, Jena 07747, Germany., Stumm R; Institute of Pharmacology and Toxicology, Jena University Hospital, Friedrich Schiller University Jena, Jena 07747, Germany., Scambler PJ; Developmental Biology of Birth Defects, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Ivins S; Developmental Biology of Birth Defects, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. Electronic address: s.ivins@ucl.ac.uk.
Publikováno v:
Cell reports [Cell Rep] 2021 Aug 24; Vol. 36 (8), pp. 109610.
Autor:
Jafree DJ; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.; Faculty of Medical Sciences, University College London, London, UK., Long DA; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK., Scambler PJ; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK., Ruhrberg C; UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK. c.ruhrberg@ucl.ac.uk.
Publikováno v:
Angiogenesis [Angiogenesis] 2021 May; Vol. 24 (2), pp. 271-288. Date of Electronic Publication: 2021 Apr 06.
Autor:
Paz-y-Miño, César1 (AUTHOR) genetica_medica@cesarpazymino.com, Vargas-Vera, Ramón Miguel2 (AUTHOR) dr.ramonvargasvera@hotmail.com, Placencia-Ibadango, Martha Verónica3 (AUTHOR), Vargas-Silva, Kalid Stefano4 (AUTHOR), García-Hernández, Juan Luis5 (AUTHOR), Balarezo-Díaz, Thalía6 (AUTHOR), Leone, Paola E.7 (AUTHOR)
Publikováno v:
Molecular Cytogenetics (17558166). 10/31/2024, Vol. 17 Issue 1, p1-9. 9p.
Autor:
Schmidts, M, Hou, Y, Cortés, CR, Mans, DA, Huber, C, Boldt, K, Patel, M, Van Reeuwijk, J, Plaza, JM, Van Beersum, SEC, Yap, ZM, Letteboer, SJF, Taylor, SP, Herridge, W, Johnson, CA, Scambler, PJ, Ueffing, M, Kayserili, H, Krakow, D, King, SM, Beales, PL, Al-Gazali, L, Wicking, C, Cormier-Daire, V, Roepman, R, Mitchison, HM, Witman, GB, UK 10K
Publikováno v:
Nature Communications
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcae279bd67f8ff912be717746482a7c
https://www.repository.cam.ac.uk/handle/1810/277468
https://www.repository.cam.ac.uk/handle/1810/277468
