المؤلفون: Lauren Kerry Knight, MBChB (UCT), MSc (Med), FCDERM, MMed (Derm), John McGrath, MD, FRCP, FmedSci, Linda Ozoemena, BSc Hons, PhD, Riyaadh Roberts, MBChB, MMed (UCT), FCPath(SA) Anat, Carol Hlela, MBChB, FCDerm, MMed (Derm), MSc GHS, DPhil (Oxon)

المصدر: JAAD Case Reports, Vol 35, Iss , Pp 22-24 (2023)

مصطلحات موضوعية: congenital ichthyosiform erythroderma, genodermatoses, hystrix, ichthyosis, keratin 10, pediatric dermatology., Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512623000723; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/7a4a67c5f55041e6bfa241c74768fd1f

المؤلفون: Jemima E. Mellerio, Martin Laimer, William Moore, Subhanitthaya Chottianchaiwat, Lu Liu, John A. McGrath, Gabriela Petrof, Christine Prodinger, Linda Ozoemena, Anna E. Martinez

المصدر: Pediatric dermatologyREFERENCES. 38(5)

مصطلحات موضوعية: Larynx, medicine.medical_specialty, Anemia, Dermatology, Conjunctival Diseases, Laryngeal Diseases, medicine, Humans, Laryngo-onycho-cutaneous syndrome, Child, Skin, business.industry, Symblepharon, medicine.disease, Natural history, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Skin Abnormalities, Female, Epidermolysis bullosa, Laryngeal Stenosis, business, Epidermolysis Bullosa, Junctional, Junctional epidermolysis bullosa (veterinary medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dc7bc146698f1ad7462957e8382f5cc
https://pubmed.ncbi.nlm.nih.gov/34514630

المؤلفون: John T. Anim, Jemima E. Mellerio, Linda Ozoemena, Arti Nanda, Hejab Al-Ajmi, Lu Liu, Qasem A. Alsaleh, Suad AlFadhli, John A. McGrath

المصدر: International Journal of Dermatology. 57:1058-1067

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Collagen Type VII, Dystonin, Biopsy, Genes, Recessive, Dermatology, Consanguinity, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Humans, Exome, Exome sequencing, Genes, Dominant, Skin, Sanger sequencing, Transglutaminases, medicine.diagnostic_test, Molecular pathology, business.industry, Integrin beta4, Keratin-14, High-Throughput Nucleotide Sequencing, medicine.disease, Immunohistochemistry, 030104 developmental biology, Desmoplakins, Kuwait, Skin biopsy, symbols, Keratin-5, Female, gamma Catenin, Epidermolysis bullosa, Epidermolysis Bullosa, business, Cell Adhesion Molecules, Transglutaminase 5

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1669c6cb04aeff4fc224f25c85419d4c
https://doi.org/10.1111/ijd.14099

المؤلفون: Linda Ozoemena, Raquel Senra, Claudia C. Branco, Luisa Mota-Vieira, Ângela Reis-Rego, Zoe Argyropoulou, Lu Liu

المصدر: BMC Dermatology, Vol 18, Iss 1, Pp 1-5 (2018)
BMC Dermatology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Alopecia Areata, Nonsense mutation, Case Report, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, Epidermolysis bullosa simplex, Exon, 0302 clinical medicine, medicine, lcsh:Dermatology, Humans, Muscular dystrophy, Epidermolysis bullosa, Child, Azores, integumentary system, business.industry, Homozygote, Alopecia, Plectin, lcsh:RL1-803, medicine.disease, Muscle atrophy, 030104 developmental biology, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Codon, Nonsense, Clinical dermatology, Epidermolysis Bullosa Simplex, Scalp, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df9277ab079de7dbc8f3fe95c1fb71a
http://link.springer.com/article/10.1186/s12895-018-0069-x

المؤلفون: Anna E. Martinez, Jemima E. Mellerio, Linda Ozoemena, John A. McGrath, Lin Liu, S. O'Sullivan

المصدر: Clinical and Experimental Dermatology. 45:1091-1092

مصطلحات موضوعية: Hypopigmentation, Parents, Heterozygote, media_common.quotation_subject, Calcium-Binding Proteins, Afghanistan, Skin Diseases, Genetic, Keratosis, Dermatology, Art, Skin Diseases, Diagnosis, Differential, Nail Diseases, Cheilitis, Codon, Nonsense, Child, Preschool, Exome Sequencing, Humans, Female, Humanities, media_common, Penny

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5319b1f148682f4346373f2a545debf
https://doi.org/10.1111/ced.14417

المؤلفون: Emanuele de Rinaldis, Dusko Ilic, Magdalena Martinez-Queipo, Sabrina Zeddies, Alka Saxena, Ineke Slaper-Cortenbach, Sophia Aristodemou, Lu Liu, Su M. Lwin, James R. McMillan, Anna E. Martinez, Chrysanthi Ainali, John A. McGrath, Kasper Westinga, Gabriela Petrof, Alyson Guy, Marcel P. H. van den Broek, Rashida Pramanik, Francesco Dazzi, Venu Pullabhatla, Rosamund Nuamah, Linda Ozoemena, Salma Ayis, John B. Mee, Sonia Serrano, Clarisse Maurin, Jemima E. Mellerio, Ellie Rashidghamat, Alexandros Onoufriadis, Tendai Kadiyirire

المصدر: Journal of the American Academy of Dermatology. 83(2)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Stromal cell, Adolescent, Dermatology, Placebo, Mesenchymal Stem Cell Transplantation, Gastroenterology, Severity of Illness Index, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Transplantation, Homologous, Prospective Studies, Adverse effect, Infusions, Intravenous, Aged, Wound Healing, business.industry, Pruritus, Mesenchymal stem cell, Middle Aged, medicine.disease, Epidermolysis Bullosa Dystrophica, medicine.anatomical_structure, Treatment Outcome, 030220 oncology & carcinogenesis, Quality of Life, Female, Epidermolysis bullosa, Bone marrow, Stem cell, Wound healing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b74d22bd28e320030194731978211b
https://pubmed.ncbi.nlm.nih.gov/31786163

المؤلفون: Michael Antoniou, Sophia Aristodemou, Alain Hovnanian, Christos Georgiadis, Mei Chen, Su M. Lwin, M. Titeux, S. Miskinyte, Rashida Pramanik, Waseem Qasim, Lucas Chan, Rachel Phillips, Jakub Tolar, Wei Li Di, John A. McGrath, Adrian J. Thrasher, Christos Tziotzios, Linda Ozoemena, Alyson Guy, Alya Abdul-Wahab, Fiona Reid, James R. McMillan, Magdalena Martinez-Queipo, Lu Liu, Fernando Larcher, Jemima E. Mellerio, Johann W. Bauer, Patricia A. Lovell, Marcela Del Rio, Sonia Serrano, Clarisse Maurin, Anastasia Petrova, Farhatullah Syed, Alexandros Onoufriadis, Tendai Kadiyirire, Ellie Rashidghamat, Maria Elstad, Racheal Rowles, Farzin Farzaneh, John B. Mee, Elizabeth Orrin

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Genetic enhancement, Research & Experimental Medicine, law.invention, 0302 clinical medicine, law, COL7A1, REAL-TIME PCR, General Medicine, Middle Aged, Epidermolysis Bullosa Dystrophica, Treatment Outcome, medicine.anatomical_structure, Medicine, Research & Experimental, 030220 oncology & carcinogenesis, Recombinant DNA, Female, Life Sciences & Biomedicine, Genetic diseases, Adult, CELL THERAPY, EXPRESSION, medicine.medical_specialty, VII COLLAGEN, Collagen Type VII, Transgene, Dermatology, DIAGNOSIS, 03 medical and health sciences, Gene therapy, In vivo, Complementary DNA, Anchoring fibrils, medicine, Genetics, Humans, Fibroblast, Basement membrane, Science & Technology, business.industry, TRANSPLANTATION, Lentivirus, KERATINOCYTES, Genetic Therapy, Fibroblasts, 030104 developmental biology, Clinical Medicine, INJECTION, business, SKIN

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3df16e09632564610c72d70991aa6380
http://hdl.handle.net/10044/1/74451

المؤلفون: Sophia Aristodemou, W.H. Irwin McLean, Dimitra Dafou, Lu Liu, Hejab Al-Ajmi, Masashi Akiyama, James R. McMillan, John A. McGrath, Jake Howden, Linda Ozoemena, Celine Pourreyron, Arti Nanda, Michael A. Simpson, Gabriela Petrof, Laura E. Proudfoot, Takuya Takeichi, Maddy Parsons, Andrew P. South

المصدر: The American Journal of Human Genetics. 95:308-314

مصطلحات موضوعية: Male, Ectodermal dysplasia, Blotting, Western, Genes, Recessive, Consanguinity, Biology, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Cell morphology, Exon, Ectodermal Dysplasia, Intellectual Disability, Report, Genetics, medicine, Humans, Genetics(clinical), RNA, Messenger, Child, Genetics (clinical), Skin, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Exons, Syndrome, medicine.disease, Pedigree, Cleft Palate, DNA-Binding Proteins, Hypodontia, Phenotype, Palmoplantar keratoderma, Female, Syndactyly, Haploinsufficiency, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed7c5ff70079bc47c2dac5cdbdd6c5ea
https://doi.org/10.1016/j.ajhg.2014.08.001

المؤلفون: Sophia Aristodemou, John A. McGrath, John Y.W. Lee, Anna E. Martinez, Linda Ozoemena, Celia Moss, Chao Kai Hsu, Jemima E. Mellerio, Malobi Ogboli, Lu Liu

المصدر: Lee, J Y W, Liu, L, Hsu, C-K, Aristodemou, S, Ozoemena, L, Ogboli, M, Moss, C, Martinez, A E, Mellerio, J E & McGrath, J A 2017, ' Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex ', Journal of Investigative Dermatology, vol. 137, no. 6, pp. 1378-1380 . https://doi.org/10.1016/j.jid.2017.01.004

مصطلحات موضوعية: keratin 14, 0301 basic medicine, Adult, Male, Keratin 14, Dermatology, ubiquitination, Biochemistry, Molecular heterogeneity, genetic heterogeneity, Cohort Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, Epidermolysis bullosa simplex, 0302 clinical medicine, KLHL24, Biopsy, Medicine, Humans, Genetic Predisposition to Disease, Child, Molecular Biology, Genetics, medicine.diagnostic_test, business.industry, Genetic heterogeneity, Biopsy, Needle, Cell Biology, medicine.disease, Prognosis, Immunohistochemistry, Pedigree, Repressor Proteins, 030104 developmental biology, Child, Preschool, Epidermolysis Bullosa Simplex, Mutation (genetic algorithm), Mutation, Female, Epidermolysis bullosa, mutation, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80331fbf70588e98a219e27c21a0c533
https://pubmed.ncbi.nlm.nih.gov/28532758

المؤلفون: Celia Moss, Malobi Ogboli, Dharshini Sathishkumar, Lu Liu, Jemima E. Mellerio, Linda Ozoemena, A. Terron-Kwiatkowski, Anna E. Martinez, F. Browne, Elizabeth Orrin, Susannah Hoey, John A. McGrath, D. Baty

المصدر: Sathishkumar, D, Orrin, E, Terron-Kwiatkowski, A, Browne, F, Martinez, A E, Mellerio, J E, Ogboli, M, Hoey, S, Ozoemena, L, Liu, L, Baty, D, McGrath, J A & Moss, C 2015, ' The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex ', Journal of Investigative Dermatology . https://doi.org/10.1016/j.jid.2015.11.024

مصطلحات موضوعية: 0301 basic medicine, Male, Keratin 14, DNA Mutational Analysis, Mutation, Missense, Dermatology, Biochemistry, Sampling Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, Epidermolysis bullosa simplex, 0302 clinical medicine, Cause of Death, medicine, Humans, Survival rate, Molecular Biology, Cause of death, Genetics, business.industry, Infant, Newborn, Keratin-14, Infant, Cell Biology, medicine.disease, Prognosis, Keratin 5, Survival Rate, 030104 developmental biology, Child, Preschool, Epidermolysis Bullosa Simplex, Mutation (genetic algorithm), Keratin-5, Female, Epidermolysis bullosa, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82c50e302a3ded5d5c2d00f5447c5777
https://pubmed.ncbi.nlm.nih.gov/26743602