نتائج البحث - "Ruud G. L. Nellen"

1

Novel TGM5 mutations in acral peeling skin syndrome

المؤلفون: Maurice A.M. van Steensel, Eli Sprecher, W.H. Irwin McLean, Michel van Geel, Arti Nanda, Marcel F. Jonkman, Jaap J A J van der Velden, John A. McGrath, Ruud G. L. Nellen, Andrew Cassidy

المساهمون: Translational Immunology Groningen (TRIGR), MUMC+: MA Dermatologie (9), Dermatologie, RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy

المصدر: Experimental dermatology, 24(4), 285-289. Blackwell Publishing Ltd
Experimental Dermatology, 24(4), 285-289. Wiley

مصطلحات موضوعية: Male, Pathology, Stratum granulosum, DNA Mutational Analysis, medicine.disease_cause, Biochemistry, INDEL Mutation, Missense mutation, Child, Cells, Cultured, Netherlands, Mutation, integumentary system, ENCODING CYSTATIN-A, Recombinant Proteins, FAMILY, Europe, medicine.anatomical_structure, Kuwait, Child, Preschool, Female, TGM5, medicine.medical_specialty, In silico, Molecular Sequence Data, Mutation, Missense, Dermatology, Biology, Transfection, Skin Diseases, MISSENSE MUTATION, Stratum corneum, medicine, CSTA, Humans, Amino Acid Sequence, Molecular Biology, Gene, Transglutaminases, acral peeling skin syndrome, Sequence Homology, Amino Acid, Alternative splicing, Infant, GENE, Alternative Splicing, HEK293 Cells, Amino Acid Substitution, Mutant Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3447d61d2685c49f21000159332986
https://doi.org/10.1111/exd.12650

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2

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1

المؤلفون: Marcel F. Jonkman, P.M. Steijlen, Ivo F. Nagtzaam, A. Jeannette M. Hoogeboom, Ruud G. L. Nellen, Reno S. Bladergroen, Michel van Geel, Maurice A.M. van Steensel

المساهمون: Dermatology, Clinical Genetics, Dermatologie, MUMC+: MA Dermatologie (9), RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Translational Immunology Groningen (TRIGR)

المصدر: Experimental Dermatology, 24(11), 883-885. Wiley-Blackwell Publishing Ltd
Experimental Dermatology, 24(11), 883-885. Wiley
Experimental dermatology, 24(11), 883-885. Blackwell Publishing Ltd

مصطلحات موضوعية: Genetics, Functional evaluation, medicine.medical_specialty, KERATIN 1, Hyperkeratosis, Dermatology, Biology, palmoplantar keratoderma, medicine.disease, Biochemistry, Phenotype, Palmoplantar keratoderma, Epidermolytic ichthyosis, Epidermolytic Ichthyosis, Mutation (genetic algorithm), medicine, KRT1, Molecular Biology, keratin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5065f9fc52c60a6b81040a6834e4b4
https://doi.org/10.1111/exd.12786

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3

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent

المؤلفون: Jayadev Betkerur, P.M. Steijlen, Tijs Claessens, Ranugha Subramaniam, Michel van Geel, Ruud G. L. Nellen, Akila Prashanth

المساهمون: Dermatologie, MUMC+: MA Dermatologie (9), RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy

المصدر: Journal of Dermatological Science, 80(1), 76-78. Elsevier Ireland Ltd

مصطلحات موضوعية: Genetics, Dermatology, Biology, Biochemistry, Diffuse palmoplantar keratoderma, Indian subcontinent, RNA Splice Sites, SLURP1, Mutation (genetic algorithm), Mutation, In patient, Molecular Biology, Novel mutation, Mal de Meleda

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3dab82383337390afcaa288aa3d958
https://doi.org/10.1016/j.jdermsci.2015.07.013

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Full Text via ClinicalKey

4

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

المؤلفون: Jorge Frank, Maaike Vreeburg, Ruud G. L. Nellen, Maurice A.M. van Steensel, Michel van Geel, P.M. Steijlen

المساهمون: Promovendi ODB, Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (3), MUMC+: MA AIOS Dermatologie (9), MUMC+: MA Dermatologie (9), MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Human Mutation, 38(4), 343-356. Wiley

مصطلحات موضوعية: 0301 basic medicine, RETICULUM CA2+-ATPASE MUTANTS, Intracellular Space, Disease, computer.software_genre, medicine.disease_cause, 030207 dermatology & venereal diseases, 0302 clinical medicine, Darier Disease, Databases, Genetic, Missense mutation, CHINESE PATIENTS, Genetics (clinical), Skin, Mutation, CA2+ PUMP, Database, HUMAN INHERITED DISEASE, ATP2C1, 3. Good health, Hailey–Hailey disease, acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis, Pemphigus, Benign Familial, Hailey-Hailey disease, SPCA1, NEUROPSYCHIATRIC ASPECTS, Calcium-Transporting ATPases, Biology, genotype-phenotype correlation, Sarcoplasmic Reticulum Calcium-Transporting ATPases, 03 medical and health sciences, locus-specific database, MISSENSE MUTATION, ATP2A2, Genetics, medicine, Humans, ACROKERATOSIS VERRUCIFORMIS, Darier disease, CLINICAL-FEATURES, medicine.disease, ISRAEL COMBINED EVALUATION, CULTURED KERATINOCYTES, SERCA2, 030104 developmental biology, Calcium, Leiden Open Variation Database, computer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ba30977cc3543d31d529ab32970b1cc
https://cris.maastrichtuniversity.nl/en/publications/9cd50d6c-907f-4c50-9bce-043c13e5b05c

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5

Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects'

المؤلفون: K. M. L. Huijbregts, Ruud G. L. Nellen, M. van Geel

المساهمون: Promovendi ODB, Dermatologie, MUMC+: MA Dermatologie (9), Genetica & Celbiologie, RS: FHML non-thematic output, RS: GROW - School for Oncology and Reproduction, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Psychiatry, EMGO - Mental health

المصدر: Nellen, R G L, Van Geel, M & Huijbregts, K M L 2016, ' Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects' ', British Journal of Dermatology, vol. 175, no. 1, pp. 223-224 . https://doi.org/10.1111/bjd.14536
British Journal of Dermatology, 175(1), 223-224. Wiley
British Journal of Dermatology, 175(1), 223-224. Wiley-Blackwell

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Collaborative Care, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Darier Disease, ATP2A2, Humans, Medicine, Israel, business, Psychiatry, Depression (differential diagnoses)