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Research Outputs

  1. 2010
  2. Progress in Epidermolysis Bullosa Research: Toward Treatment and Cure

    Uitto, J., McGrath, J. A., Rodeck, U., Bruckner-Tuderman, L. & Robinson, E. C., Jul 2010, In : Journal of Investigative Dermatology. 130, 7, p. 1778 - 1784 7 p.

    Research output: Contribution to journalLiterature review

  3. Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa

    Almaani, N., Nagy, N., Liu, L., Dopping-Hepenstal, P. J. C., Lai-Cheong, J. E., Clements, S. E., Techanukul, T., Tanaka, A., Mellerio, J. E. & McGrath, J. A., Jul 2010, In : Journal of Investigative Dermatology. 130, 7, p. 1937 - 1940 4 p.

    Research output: Contribution to journalLetter

  4. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

    El-Kamah, G. Y., Fong, K., El-Ruby, M., Affifi, H. H., Clements, S. E., Lai-Cheong, J. E., Amr, K., El-Darouti, M. & McGrath, J. A., Jul 2010, In : British Journal of Dermatology. 163, 1, p. 213 - 215 3 p.

    Research output: Contribution to journalLetter

  5. Systemic inflammation sensitizes the neonatal brain to excitotoxicity through a pro-/anti-inflammatory imbalance: key role of TNFalpha pathway and protection by etanercept

    Adén, U., Favrais, G., Plaisant, F., Winerdal, M., Felderhoff-Mueser, U., Lampa, J., Lelièvre, V. & Gressens, P., Jul 2010, In : Brain Behavior and Immunity. 24, 5, p. 747-758 12 p., N/A.

    Research output: Contribution to journalArticle

  6. Neuroprotective effect of inhaled nitric oxide on excitotoxic-induced brain damage in neonatal rat

    Pansiot, J., Loron, G., Olivier, P., Fontaine, R., Charriaut-Marlangue, C., Mercier, J-C., Gressens, P. & Baud, O., 1 Jun 2010, In : PLoS ONE. 5, 6, p. N/A 7 p., e10916.

    Research output: Contribution to journalArticle

  7. A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

    Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B. & McGrath, J. A., Jun 2010, In : Journal of Investigative Dermatology. 130, 6, p. 1551 - 1557 7 p.

    Research output: Contribution to journalArticle

  8. Animal models of epidermolysis bullosa: update 2010

    Bruckner-Tuderman, L., McGrath, J. A., Robinson, E. C. & Uitto, J., Jun 2010, In : Journal of Investigative Dermatology. 130, 6, p. 1485-1488 4 p., N/A.

    Research output: Contribution to journalArticle

  9. Crises fébriles: mécanismes, conséquences et prise en charge

    Auvin, S., Desnous, B., Bellavoine, V., Gressens, P. & Boespflug-Tanguy, O., Jun 2010, In : Archives De Pediatrie. 17, 6, p. 686-687 2 p., N/A.

    Research output: Contribution to journalArticle

  10. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa

    Fassihi, H., Liu, L., Renwick, P. J., Braude, P. R. & McGrath, J. A., Jun 2010, In : British Journal of Dermatology. 162, 6, p. 1330 - 1336 7 p.

    Research output: Contribution to journalArticle

  11. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

    Cabral, R. M., Liu, L., Hogan, C., Dopping-Hepenstal, P. J. C., Winik, B. C., Asial, R. A., Dobson, R., Mein, C. A., Baselaga, P. A., Mellerio, J. E., Nanda, A., Boente, M. D. C., Kelsell, D. P., McGrath, J. A. & South, A. P., Jun 2010, In : Journal of Investigative Dermatology. 130, 6, p. 1543 - 1550 8 p.

    Research output: Contribution to journalArticle

  12. Identification of a Homozygous Deletion Mutation in C16orf57 in a Family With Clericuzio-Type Poikiloderma With Neutropenia

    Tanaka, A., Morice-Picard, F., Lacombe, D., Nagy, N., Hide, M., Taieb, A. & McGrath, J., Jun 2010, In : American Journal of Medical Genetics. Part A. 152A, 6, p. 1347 - 1348 2 p.

    Research output: Contribution to journalLetter

  13. Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin

    Beltrand, J., Lahlou, N., Le Charpentier, T., Sebag, G., Leka, S., Polak, M., Tubiana-Rufi, N., Lacombe, D., de Kerdanet, M., Huet, F., Robert, J-J., Chevenne, D., Gressens, P. & Lévy-Marchal, C., Jun 2010, In : European journal of endocrinology / European Federation of Endocrine Societies. 162, 6, p. 1083-1091 9 p., N/A.

    Research output: Contribution to journalArticle

  14. Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A

    Nagy, N., Wedgeworth, E., Hamada, T., White, J. M., Hashimoto, T. & McGrath, J. A., Jun 2010, In : Journal of Dermatological Science. 58, 3, p. 220 - 222 3 p.

    Research output: Contribution to journalLetter

  15. Evaluation of inhaled .NO in a model of rat neonate brain injury caused by hypoxia-ischaemia

    Joriot-Chekaf, S., Sfeir, R., Riou, Y., Gressens, P., Vallée, L., Bordet, R. & Vamecq, J., May 2010, In : Injury. 41, 5, p. 517-521 5 p., N/A.

    Research output: Contribution to journalArticle

  16. Neuronal damage in the preterm baboon: impact of the mode of ventilatory support

    Verney, C., Rees, S., Biran, V., Thompson, M., Inder, T. & Gressens, P., May 2010, In : Journal of Neuropathology and Experimental Neurology. 69, 5, p. 473-482 10 p., N/A.

    Research output: Contribution to journalArticle

  17. The molecular skin pathology of familial primary localized cutaneous amyloidosis

    Tanaka, A., Lai-Cheong, J. E., van den Akker, P. C., Nagy, N., Millington, G., Diercks, G. F. H., Vader, P. C. V. V., Clements, S. E., Almaani, N., Techanukul, T., Hide, M., South, A. P. & McGrath, J. A., May 2010, In : Experimental Dermatology. 19, 5, p. 416 - 423 8 p.

    Research output: Contribution to journalArticle

  18. Prenatal Diagnosis of Epidermolysis Bullosa

    Fassihi, H. & McGrath, J. A., Apr 2010, In : Dermatologic clinics. 28, 2, p. 231 - + 7 p.

    Research output: Contribution to journalArticle

  19. Many roads lead to primary autosomal recessive microcephaly

    Kaindl, A. M., Passemard, S., Kumar, P., Kraemer, N., Issa, L., Zwirner, A., Gerard, B., Verloes, A., Mani, S. & Gressens, P., Mar 2010, In : Progress in Neurobiology. 90, 3, p. 363-383 21 p., N/A.

    Research output: Contribution to journalArticle

  20. Characterization of the postconditioning effect of dexmedetomidine in mouse organotypic hippocampal slice cultures exposed to oxygen and glucose deprivation

    Dahmani, S., Rouelle, D., Gressens, P. & Mantz, J., Feb 2010, In : Anesthesiology. 112, 2, p. 373-383 11 p., N/A.

    Research output: Contribution to journalArticle

  21. Réflexions sur le recrutement des universitaires en pédiatrie

    Sarles, J., Aujard, Y., Bensman, A., Blanche, S., Clément, A., Cochat, P., Dalle, J-H., Entz-Werlé, N., Gressens, P., Labbé, A., Legall, E., Lienhardt, A., Mallet, E., Motte, J. & Tardieu, M., Feb 2010, In : Archives De Pediatrie. 17, 2, p. 109-111 3 p., N/A.

    Research output: Contribution to journalArticle

  22. Blistering skin diseases: a bridge between dermatopathology and molecular biology

    Nagy, N. & McGrath, J. A., Jan 2010, In : Histopathology. 56, 1, p. 91 - 99 9 p.

    Research output: Contribution to journalLiterature review

  23. Ectodermal dysplasia-skin fragility syndrome

    McGrath, J. A. & Mellerio, J. E., Jan 2010, In : Dermatologic clinics. 28, 1, p. 125-129 5 p., N/A.

    Research output: Contribution to journalArticle

  24. Kindler Syndrome

    Lai-Cheong, J. E. & McGrath, J. A., Jan 2010, In : Dermatologic clinics. 28, 1, p. 119 - + 6 p.

    Research output: Contribution to journalArticle

  25. Lethal Acantholytic Epidermolysis Bullosa

    McGrath, J. A., Bolling, M. C. & Jonkman, M. F., Jan 2010, In : Dermatologic clinics. 28, 1, p. 131 - + 5 p.

    Research output: Contribution to journalArticle

  26. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation

    Clements, S. E., Techanukul, T., Coman, D., Mellerio, J. E. & McGrath, J. A., Jan 2010, In : British Journal of Dermatology. 162, 1, p. 201 - 207 7 p.

    Research output: Contribution to journalArticle

  27. Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

    Lin, M-W., Lee, D-D., Liu, T-T., Lin, Y-F., Chen, S-Y., Huang, C-C., Weng, H-Y., Liu, Y-F., Tanaka, A., Arita, K., Lai-Cheong, J., Palisson, F., Chang, Y-T., Wong, C-K., Matsuura, I., McGrath, J. A. & Tsai, S-F., Jan 2010, In : European Journal of Human Genetics. 18, 1, p. 26 - 32 7 p.

    Research output: Contribution to journalArticle

  28. Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

    Wagner, J. E., Ishida-Yamamoto, A., McGrath, J. A., Hordinsky, M., Keene, D. R., Riddle, M. J., Osborn, M. J., Lund, T., Dolan, M., Blazar, B. R. & Tolar, J., 2010, In : New England Journal of Medicine. 363, 7, p. 629 - 639 11 p.

    Research output: Contribution to journalArticle

  29. Clericuzio-type poikiloderma with neutropenia resulting from a homozygous internal deletion mutation, c.179delC, in the C16orf57 gene

    Tanaka, A., Morice-Picard, F., Rezvani, H. R., Hide, M., Taieb, A. & McGrath, J. A., 2010, In : Journal of Investigative Dermatology. 130, p. S88 - S88

    Research output: Contribution to journalMeeting abstract

  30. Dermal fibroblast expression profiling implicates tumour microenvironment in the development of aggressive squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa

    Ng, Y. Z., Pourreyron, C., Proby, C., Salas, J., Murrell, D. F., McGrath, J. A., Lane, E. B., Leigh, I. M. & South, A. P., 2010, In : British Journal of Dermatology. 162, 4, p. 948 - 948 1 p.

    Research output: Contribution to journalMeeting abstract

  31. Invited Speaker 4 Abstract New inherited diseases of hemidesmosomes and desmosomes

    McGrath, J. A., 2010, In : Experimental Dermatology. 19, 11, p. 1030 - 1030 1 p.

    Research output: Contribution to journalMeeting abstract

  32. Matrix Metalloproteinase (MMP)-7 Activates Heparin-binding EGF-like Growth Factor in Squamous Cell Carcinomas Complicating Recessive Dystrophic Epidermolysis Bullosa

    Kivisaari, A., Kallajoki, M., Ala-aho, R., McGrath, J., Bauer, J., Koenigova, R., Medvecz, M., Beckert, W., Grenman, R. & Kahari, V-M., 2010, In : Journal of Investigative Dermatology. 130, p. S50 - S50

    Research output: Contribution to journalMeeting abstract

  33. Novel mutation of COL7A1 gene in a family with epidermolysis bullosa pruriginosa

    Lee, A. D., Almaani, N., McGrath, J. A. & Yosipovitch, G., 2010, In : Journal of Investigative Dermatology. 130, p. S87 - S87

    Research output: Contribution to journalMeeting abstract

  34. Polo-like kinase 1 inhibitors hold potential as targeted therapies for squamous cell carcinoma

    Watt, S., Pourreyron, C., Foerster, J., Hogan, C., Purdie, K., Bruckner-Tuderman, L., Proby, C., McGrath, J., Leigh, I. & South, A., 2010, In : Journal of Investigative Dermatology. 130, p. S51 - S51

    Research output: Contribution to journalMeeting abstract

  35. Regulation of epidermal differentiation evidenced by gene silencing of extracellular matrix protein 1

    Hamada, T., Ishii, N., Oyama, N., Yasumoto, S., McGrath, J. & Hashimoto, T., 2010, In : Journal of Investigative Dermatology. 130, p. S27 - S27

    Research output: Contribution to journalMeeting abstract

  36. Revertant mosaicism in recessive dystrophic epidermolysis bullosa due to intragenic crossover in the COL7A1 gene

    Almaani, N., Nagy, N., Liu, L., Dopping-Hepenstal, P. D. C., Lai-Cheong, J. E., Clements, S., Techanukul, T., Tanaka, A., Mellerio, J. E. & McGrath, J. A., 2010, In : British Journal of Dermatology. 162, 4, p. 940 - 940 1 p.

    Research output: Contribution to journalMeeting abstract

  37. Skin grafts recruit bone marrow-derived mesenchymal stem cells through SDF-1 alpha/CXCR4 interaction to enhance tissue regeneration

    Iinuma, S., Tamai, K., Chino, T., McGrath, J. A., Uitto, J., Umegaki, N., Katayama, I., Iizuka, H. & Kaneda, Y., 2010, In : Journal of Investigative Dermatology. 130, p. S75 - S75

    Research output: Contribution to journalMeeting abstract

  38. The Inversa Type of Recessive Dystrophic Epidermolysis Bullosa is Caused by Specific Arginine and Glycine Substitutions in Type VII Collagen

    van den Akker, P., Mellerio, J., Martinez, A., Liu, L., Dopping-Hepenstal, P., van Essen, A., Scheffer, H., Hofstra, R., McGrath, J. & Jonkman, M., 2010, In : Journal of Investigative Dermatology. 130, p. S78 - S78

    Research output: Contribution to journalMeeting abstract

  39. 2009
  40. Epidermolysis bullosa pruriginosa in association with lichen planopilaris

    Almaani, N., Liu, L., Perez, A., Robson, A., Mellerio, J. E. & McGrath, J. A., Dec 2009, In : Clinical and Experimental Dermatology. 34, 8, p. E825 - E828

    Research output: Contribution to journalArticle

  41. New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis

    Tanaka, A., Arita, K., Lai-Cheong, J. E., Palisson, F., Hide, M. & McGrath, J. A., Dec 2009, In : British Journal of Dermatology. 161, 6, p. 1217 - 1224 8 p.

    Research output: Contribution to journalLiterature review

  42. Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema

    Nagy, N., Greaves, M. W., Tanaka, A., McGrath, J. A. & Grattan, C. E., Oct 2009, In : Journal of Dermatological Science. 56, 1, p. 62 - 64 3 p.

    Research output: Contribution to journalLetter

  43. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

    Passemard, S., Titomanlio, L., Elmaleh, M., Afenjar, A., Alessandri, J-L., Andria, G., de Villemeur, T. B., Boespflug-Tanguy, O., Burglen, L., Del Giudice, E., Guimiot, F., Hyon, C., Isidor, B., Mégarbané, A., Moog, U., Odent, S., Hernandez, K., Pouvreau, N., Scala, I., Schaer, M. & 3 others, Gressens, P., Gerard, B. & Verloes, A., 22 Sep 2009, In : Neurology. 73, 12, p. 962-969 8 p., N/A.

    Research output: Contribution to journalArticle

  44. Melatonin promotes oligodendroglial maturation of injured white matter in neonatal rats

    Olivier, P., Fontaine, R. H., Loron, G., Van Steenwinckel, J., Biran, V., Massonneau, V., Kaindl, A., Dalous, J., Charriaut-Marlangue, C., Aigrot, M-S., Pansiot, J., Verney, C., Gressens, P. & Baud, O., 22 Sep 2009, In : PLoS ONE. 4, 9, p. N/A 13 p., e7128.

    Research output: Contribution to journalArticle

  45. Autosomal recessive primary microcephalies (MCPH)

    Kaindl, A. M., Passemard, S. & Gressens, P., Sep 2009, In : JOURNAL TITLE?. 13, 5, p. 458-458 1 p., N/A.

    Research output: Contribution to journalArticle

  46. Conséquences obstétricales et pédiatriques de la consommation de cocaïne pendant la grossesse

    Lejeune, C., Simonpoli, A-M. & Gressens, P., Sep 2009, In : Archives De Pediatrie. 16, Suppl 1, p. S56-S63 8 p., N/A.

    Research output: Contribution to journalArticle

  47. Molecular mechanisms involved in injury to the preterm brain

    Kaindl, A. M., Favrais, G. & Gressens, P., Sep 2009, In : Journal of Child Neurology. 24, 9, p. 1112-1118 7 p., N/A.

    Research output: Contribution to journalArticle

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