King's College London

Research portal

Research Outputs

  1. 2015
  2. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

    Ganetzky, R., Finn, E., Bagchi, A., Zollo, O., Conlin, L., Deardorff, M., Harr, M., Simpson, M. A., McGrath, J. A., Zackai, E., Lemmon, M. A. & Sondheimer, N., Sep 2015, In : Molecular genetics & genomic medicine. 3, 5, p. 452-8 7 p.

    Research output: Contribution to journalArticle

  3. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

    Takeichi, T., Sugiura, K., Hsu, C-K., Tanahashi, K., Takama, H., Simpson, M. A., McGrath, J. A. & Akiyama, M., Sep 2015, In : Journal of Dermatological Science. 79, 3, p. 317-9 3 p.

    Research output: Contribution to journalArticle

  4. Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

    Petrof, G., Lwin, S. M., Martinez-Queipo, M., Abdul-Wahab, A., Tso, S., Mellerio, J. E., Slaper-Cortenbach, I., Boelens, J. J., Tolar, J., Veys, P., Ofuya, M., Peacock, J., Martinez, A. E. & McGrath, J. A., Sep 2015, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalLetter

  5. Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

    Geyer, M. B., Radhakrishnan, K., Giller, R., Umegaki, N., Harel, S., Kiuru, M., Morel, K. D., LeBoeuf, N., Kandel, J., Bruckner, A., Fabricatore, S., Chen, M., Woodley, D., McGrath, J., Baxter-Lowe, L., Uitto, J., Christiano, A. M. & Cairo, M. S., Sep 2015, In : Journal of pediatrics. 167, 3, p. 765-9.e1

    Research output: Contribution to journalArticle

  6. Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures

    De Bundel, D., Fafouri, A., Csaba, Z., Loyens, E., Lebon, S., El Ghouzzi, V., Peineau, S., Vodjdani, G., Kiagiadaki, F., Aourz, N., Coppens, J., Walrave, L., Portelli, J., Vanderheyden, P., Chai, S. Y., Thermos, K., Bernard, V., Collingridge, G., Auvin, S., Gressens, P. & 2 others, Smolders, I. & Dournaud, P., 26 Aug 2015, In : Journal of Neuroscience. 35, 34, p. 11960-75 16 p.

    Research output: Contribution to journalArticle

  7. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

    Mellerio, J. E., Robertson, S. J., Bernardis, C., Diem, A., Fine, J. D., George, R., Goldberg, D., Halmos, G. B., Harries, M., Jonkman, M. F., Lucky, A., Martinez, A. E., Maubec, E., Morris, S., Murrell, D. F., Palisson, F., Pillay, E. I., Robson, A., Salas-Alanis, J. C. & McGrath, J. A., 24 Aug 2015, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  8. Activating CARD14 Mutations are Associated with Generalised Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris

    Berki, D. M., Liu, L., Choon, S-E., David Burden, A., Griffiths, C. E., Navarini, A. A., Tan, E. S., Irvine, A. D., Ranki, A., Ogo, T., Petrof, G., Mahil, S. K., Duckworth, M., Allen, M. H., Vito, P., Trembath, R., McGrath, J., Smith, C. H., Capon, F. & Barker, J. N., 13 Aug 2015, In : Journal of Investigative Dermatology. 135, p. 2964–297

    Research output: Contribution to journalArticle

  9. Altered cytokine profiles in children with indeterminate quantiferon results and common infections

    Jeljeli, M., Guérin-El Khourouj, V., de Lauzanne, A., Armand, M., Chhor, V., Pédron, B., Dauger, S., Viala, J., Gressens, P., Faye, A. & Sterkers, G., Aug 2015, In : The Journal of infection. 71, 2, p. 250-7 8 p.

    Research output: Contribution to journalArticle

  10. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2

    Fong, K., Takeichi, T., Liu, L., Pramanik, R., Lee, J., Akiyama, M. & McGrath, J. A., 1 Jul 2015, In : Clinical and Experimental Dermatology. 40, 5, p. 529-532 4 p.

    Research output: Contribution to journalArticle

  11. Familial frontal fibrosing alopecia

    Tziotzios, C., Fenton, D. A., Stefanato, C. M. & McGrath, J. A., Jul 2015, In : Journal of the American Academy of Dermatology. 73, 1, p. e37

    Research output: Contribution to journalLetter

  12. Pathophysiology and neuroprotection of global and focal perinatal brain injury: lessons from animal models

    Titomanlio, L., Fernández-López, D., Manganozzi, L., Moretti, R., Vexler, Z. S. & Gressens, P., Jun 2015, In : Pediatric Neurology. 52, 6, p. 566-84 19 p.

    Research output: Contribution to journalArticle

  13. Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3

    Agarwala, M. K., George, R., Pramanik, R. & McGrath, J. A., 19 May 2015, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  14. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

    Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., McLean, W. H. I., Munro, C. S. & Zamiri, M., 12 May 2015, In : British Journal of Dermatology. 173, 5

    Research output: Contribution to journalLetter

  15. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

    Takeichi, T., Nanda, A., Aristodemou, S., McMillan, J. R., Lee, J., Akiyama, M., Al-Ajmi, H., Simpson, M. A. & McGrath, J. A., 1 May 2015, In : British Journal of Dermatology. 172, 5, p. 1407-1411 5 p.

    Research output: Contribution to journalArticle

  16. Anti-ictogenic and antiepileptogenic properties of brivaracetam in mature and immature rats

    Dupuis, N., Matagne, A., Staelens, L., Dournaud, P., Desnous, B., Gressens, P. & Auvin, S., May 2015, In : Epilepsia. 56, 5, p. 800-5 6 p.

    Research output: Contribution to journalArticle

  17. Inflammation-induced sensitization of the brain in term infants

    Fleiss, B., Tann, C. J., Degos, V., Sigaut, S., Van Steenwinckel, J., Schang, A-L., Kichev, A., Robertson, N. J., Mallard, C., Hagberg, H. & Gressens, P., Apr 2015, In : Developmental Medicine and Child Neurology. 57, S3, p. 17-28 12 p.

    Research output: Contribution to journalArticle

  18. Novel TGM5 mutations in acral peeling skin syndrome

    van der Velden, J. J. A. J., van Geel, M., Nellen, R. G. L., Jonkman, M. F., McGrath, J. A., Nanda, A., Sprecher, E., van Steensel, M. A. M., McLean, W. H. I. & Cassidy, A. J., Apr 2015, In : Experimental Dermatology. 24, 4, p. 285-9 5 p.

    Research output: Contribution to journalArticle

  19. Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ)

    Takeichi, T., Hsu, C. -K., Yang, H. -S., Chen, H. -Y., Wong, T. -W., Tsai, W. -L., Chao, S. -C., Lee, J. Y. -Y., Akiyama, M., Simpson, M. A. & McGrath, J. A., Apr 2015, In : British Journal of Dermatology. 172, 4, p. 1111-1115 5 p.

    Research output: Contribution to journalArticle

  20. The three-body problem of therapy with induced pluripotent stem cells

    Tolar, J. & McGrath, J. A., 20 Feb 2015, In : Genome medicine. 7, 1, p. 15

    Research output: Contribution to journalArticle

  21. Blood-brain barrier dysfunction in disorders of the developing brain

    Moretti, R., Pansiot, J., Bettati, D., Strazielle, N., Ghersi-Egea, J-F., Damante, G., Fleiss, B., Titomanlio, L. & Gressens, P., 17 Feb 2015, In : Frontiers in Neuroscience. 9, 15 p., 40.

    Research output: Contribution to journalArticle

  22. Transplanted bone marrow-derived circulating PDGFRα+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft

    Iinuma, S., Aikawa, E., Tamai, K., Fujita, R., Kikuchi, Y., Chino, T., Kikuta, J., McGrath, J. A., Uitto, J., Ishii, M., Iizuka, H. & Kaneda, Y., 15 Feb 2015, In : Journal of Immunology. 194, 4, p. 1996-2003 8 p.

    Research output: Contribution to journalArticle

  23. Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

    Takeichi, T., Nanda, A., Liu, L., Aristodemou, S., McMillan, J. R., Sugiura, K., Akiyama, M., Al-Ajmi, H., Simpson, M. A. & McGrath, J. A., Feb 2015, In : British Journal of Dermatology. 172, 2, p. 527-31 5 p.

    Research output: Contribution to journalArticle

  24. Most individuals with either segmental or non-segmental vitiligo display evidence of bilateral cochlear dysfunction

    Anbar, T. S., El-Badry, M. M., McGrath, J. A. & Abdel-Azim, E. S., Feb 2015, In : British Journal of Dermatology. 172, 2, p. 406-11 6 p.

    Research output: Contribution to journalArticle

  25. Desmosomal Proteins and Their Role in Epidermolysis Bullosa

    McGrath, J. A., 1 Jan 2015, Blistering Diseases: Clinical Features, Pathogenesis, Treatment. Springer Berlin Heidelberg, p. 49-54 6 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  26. Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures

    Salam, A. & McGrath, J. A., Jan 2015, In : Journal of Investigative Dermatology. 135, 1, p. 17-9 3 p.

    Research output: Contribution to journalComment/debate

  27. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

    Takeichi, T., Liu, L., Fong, K., Ozoemena, L., McMillan, J. R., Salam, A., Campbell, P., Akiyama, M., Mellerio, J. E., McLean, W. H. I., Simpson, M. A. & McGrath, J. A., Jan 2015, In : British Journal of Dermatology. 172, 1, p. 94-100 7 p.

    Research output: Contribution to journalArticle

  28. A Critical Review of Models of Perinatal Infection

    Dean, J. M., Shi, Z., Fleiss, B., Gunn, K. C., Groenendaal, F., van Bel, F., Derrick, M., Juul, S. E., Tan, S., Gressens, P., Mallard, C., Bennet, L. & Gunn, A. J., 2015, In : Developmental Neuroscience. 16 p.

    Research output: Contribution to journalArticle

  29. Does Caspase-6 Have a Role in Perinatal Brain Injury?

    Baburamani, A. A., Miyakuni, Y., Vontell, R., Supramaniam, V. G., Svedin, P., Rutherford, M., Gressens, P., Mallard, C., Takeda, S., Thornton, C. & Hagberg, H., 2015, In : Developmental Neuroscience. 17 p.

    Research output: Contribution to journalArticle

  30. Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

    Dupuis, N., Fafouri, A., Bayot, A., Kumar, M., Lecharpentier, T., Ball, G., Edwards, D., Bernard, V., Dournaud, P., Drunat, S., Vermelle-Andrzejewski, M., Vilain, C., Abramowicz, M., Désir, J., Bonaventure, J., Gareil, N., Boncompain, G., Csaba, Z., Perez, F., Passemard, S. & 2 others, Gressens, P. & El Ghouzzi, V., 2015, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  31. Lipoid proteinosis

    Mcgrath, J. A., 2015, In : Handbook of clinical neurology. 132, p. 317-22 6 p.

    Research output: Contribution to journalArticle

  32. Nitric Oxide Pathway and Proliferation of Neural Progenitors in the Neonatal Rat

    Phan Duy, A., Pham, H., Pansiot, J., Gressens, P., Charriaut-Marlangue, C. & Baud, O., 2015, In : Developmental Neuroscience. 11 p.

    Research output: Contribution to journalArticle

  33. Regiospecific synthesis of neuroprotective 1,4-benzoxazine derivatives through a tandem oxidation-Diels-Alder reaction

    Nguyen, K. M. H., Schwendimann, L., Gressens, P. & Largeron, M., 2015, In : Organic & biomolecular chemistry. 8 p.

    Research output: Contribution to journalArticle

  34. Systems approach to the study of brain damage in the very preterm newborn

    Leviton, A., Gressens, P., Wolkenhauer, O. & Dammann, O., 2015, In : Frontiers in systems neuroscience. 9, p. 58

    Research output: Contribution to journalArticle

  35. The Anti-Inflammatory Effects of the Small Molecule Pifithrin-µ on BV2 Microglia

    Fleiss, B., Chhor, V., Rajudin, N., Lebon, S., Hagberg, H., Gressens, P. & Thornton, C., 2015, In : Developmental Neuroscience. 13 p.

    Research output: Contribution to journalArticle

  36. The role of inflammation in perinatal brain injury

    Hagberg, H., Mallard, C., Ferriero, D. M., Vannucci, S. J., Levison, S. W., Vexler, Z. S. & Gressens, P., 2015, In : Nature reviews. Neurology. 17 p.

    Research output: Contribution to journalArticle

  37. 2014
  38. Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

    Kumar, M., Csaba, Z., Peineau, S., Srivastava, R., Rasika, S., Mani, S., Gressens, P. & El Ghouzzi, V., Dec 2014, In : Annals of Clinical and Translational Neurology. 1, 12, p. 968-981 14 p.

    Research output: Contribution to journalArticle

  39. Lipoid proteinosis: rare case confirmed by ECM1 mutation detection

    Almeida, T. F., Soares, D. C., Quaio, C. R., Honjo, R. S., Bertola, D. R., McGrath, J. A. & Kim, C. A., Dec 2014, In : International Journal of Pediatric Otorhinolaryngology. 78, 12, p. 2314-5 2 p.

    Research output: Contribution to journalArticle

  40. Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome

    Tziotzios, C., Petrof, G., Liu, L., Verma, A., Wedgeworth, E. K., Mellerio, J. E. & McGrath, J. A., Nov 2014, In : British Journal of Dermatology. 171, 5, p. 1211-1214 4 p.

    Research output: Contribution to journalArticle

  41. HIP/PAP prevents excitotoxic neuronal death and promotes plasticity

    Haldipur, P., Dupuis, N., Degos, V., Moniaux, N., Chhor, V., Rasika, S., Schwendimann, L., le Charpentier, T., Rougier, E., Amouyal, P., Amouyal, G., Dournaud, P., Bréchot, C., El Ghouzzi, V., Faivre, J., Fleiss, B., Mani, S. & Gressens, P., Oct 2014, In : Annals of Clinical and Translational Neurology. 1, 10, p. 739-754 16 p.

    Research output: Contribution to journalArticle

  42. Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

    Petrof, G., Nanda, A., Howden, J., Takeichi, T., McMillan, J. R., Aristodemou, S., Ozoemena, L., Liu, L., South, A. P., Pourreyron, C., Dafou, D., Proudfoot, L. E., Al-Ajmi, H., Akiyama, M., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 4 Sep 2014, In : American Journal of Human Genetics. 95, 3, p. 308-314 7 p.

    Research output: Contribution to journalArticle

  43. Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa

    Shipman, A. R., Liu, L., Lai-Cheong, J. E., McGrath, J. A. & Heagerty, A., Sep 2014, In : JAMA dermatology. 150, 9, p. 1025-7 3 p.

    Research output: Contribution to journalArticle

  44. Familial carotenaemia and carotenoderma

    Chattopadhyay, M., Pramanik, R., McGrath, J. A. & Burrows, N. P., Aug 2014, In : Clinical and Experimental Dermatology. 39, 6, p. 771-2 2 p.

    Research output: Contribution to journalArticle

  45. Maternal inflammation modulates infant immune response patterns to viral lung challenge in a murine model

    Gleditsch, D. D., Shornick, L. P., Van Steenwincke, J., Gressens, P., Weisert, R. P. & Koenig, J. M., Jul 2014, In : Pediatric Research. 76, 1, p. 33-40 8 p.

    Research output: Contribution to journalArticle

  46. Pharmacokinetics of dexmedetomidine combined with therapeutic hypothermia in a piglet asphyxia model

    Ezzati, M., Broad, K., Kawano, G., Faulkner, S., Hassell, J., Fleiss, B., Gressens, P., Fierens, I., Rostami, J., Maze, M., Sleigh, J. W., Anderson, B., Sanders, R. D. & Robertson, N. J., Jul 2014, In : ACTA ANAESTHESIOLOGICA SCANDINAVICA. 58, 6, p. 733-742 10 p.

    Research output: Contribution to journalArticle

Previous 1 2 3 4 5 6 7 8 ...19 Next

Export:RIS BibTex Word PDF - will at most contain 500 items

Refine results Clear filters

Language

Language

Publication year

Full text

Full text

Meeting and poster abstracts

Authors

© 2018 King's College London | Strand | London WC2R 2LS | England | United Kingdom | Tel +44 (0)20 7836 5454