المؤلفون: Milestone, LM, Fleckman, P, Leachman, SA, Leigh, IM, Paller, AS, van Steensel, MA, Swartling, Carl

المصدر: Symp Proc. 10(1):18-20

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-22182

المؤلفون: van Steensel Ma

المصدر: Expert opinion on emerging drugs. 12(4)

مصطلحات موضوعية: Pharmacology, medicine.medical_specialty, Heterogeneous group, Molecular Structure, Ichthyosis, business.industry, Keratolytic, Imidazoles, Tretinoin, medicine.disease, Dermatology, Talarozole, chemistry.chemical_compound, Keratolytic Agents, chemistry, Drug Design, medicine, Animals, Humans, Pharmacology (medical), business, Retinoic acid metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5cf3bac1c9d1278cdf7006b5e02c8ab
https://pubmed.ncbi.nlm.nih.gov/17979605

المؤلفون: Thomas Ruzicka, Schneider Jj, van Steensel Ma, Ortrud K. Steinlein, Walter H.C. Burgdorf, Michael J. Flaig, Sattler Ec, Lang Mu, van Geel M

المصدر: Acta Dermato Venereologica. 92:187-188

مصطلحات موضوعية: Skin manifestations, business.industry, Late onset, Dermatology, General Medicine, Lipoma, medicine.disease, Birt–Hogg–Dubé syndrome, Tumor suppressor proteins, Mutation (genetic algorithm), medicine, Cancer research, Proto-Oncogene Proteins, Folliculin, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6d39323a0b7f179213138348262edac3
https://doi.org/10.2340/00015555-1236

المؤلفون: van Steensel Ma, Steijlen Pm, Wolf P, Glatz M, van Geel M

المصدر: Acta Dermato Venereologica. 91:714-715

مصطلحات موضوعية: Genetics, Erythrokeratodermia variabilis, business.industry, Mutation (genetic algorithm), medicine, Missense mutation, Dermatology, General Medicine, medicine.disease, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae3c86104f6d9e552850014e4bf6e127
https://doi.org/10.2340/00015555-1135

المؤلفون: Celli J, van Bokhoven Jh, Han G. Brunner, van Steensel Ma

المصدر: European Journal of Human Genetics, 7, pp. 910-919
European Journal of Human Genetics, 7, 910-919

مصطلحات موضوعية: Candidate gene, Databases, Factual, Genetics, Medical, Clinical description and delineation of genetic syndromes, Gene Expression, Classificatie van genodermatosen, Biology, Mice, Gene expression, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Gene, Klinische beschrijving en moleculaire definiëring van genetische syndromen, Genetics (clinical), Gene knockout, Hypopigmentation, Mice, Knockout, Internet, Housekeeping gene, Gene expression database, Classification of genodermatoses, Identification (biology), medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8275135ecad294fd02497d125bbce87
https://repository.ubn.ru.nl/handle/2066/274178

المؤلفون: Nellen RG; Departments of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., Steijlen PM; Departments of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., van Steensel MA; Departments of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.; Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Vreeburg M; Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Frank J; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany., van Geel M; Departments of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.; Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

مؤلفون مشاركون: European Professional Contributors; Departments of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.

المصدر: Human mutation [Hum Mutat] 2017 Apr; Vol. 38 (4), pp. 343-356. Date of Electronic Publication: 2017 Feb 15.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Calcium/*metabolism , Calcium-Transporting ATPases/*genetics , Darier Disease/*genetics , Pemphigus, Benign Familial/*genetics , Sarcoplasmic Reticulum Calcium-Transporting ATPases/*genetics, Darier Disease/metabolism ; Databases, Genetic ; Humans ; Intracellular Space/metabolism ; Pemphigus, Benign Familial/metabolism ; Skin/pathology

المؤلفون: Zeeuwen PL; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Patrick.Zeeuwen@Radboudumc.nl., Ederveen TH; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; NIZO Food Research B.V., Ede, The Netherlands., van der Krieken DA; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Niehues H; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Boekhorst J; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; NIZO Food Research B.V., Ede, The Netherlands., Kezic S; Coronel Institute of Occupational Health, Academic Medical Center, Amsterdam, The Netherlands., Hanssen DA; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Otero ME; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van Vlijmen-Willems IM; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Rodijk-Olthuis D; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Falcone D; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van den Bogaard EH; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Kamsteeg M; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Koning HD; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Zeeuwen-Franssen ME; Department of Dermatology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands., van Steensel MA; Division of Cancer Science, School of Medicine and Division of Biological Chemistry and Drug Development, School of Life Sciences, University of Dundee, Dundee, United Kingdom; Institute of Medical Biology, A*STAR, Singapore., Kleerebezem M; Wageningen University, Host-Microbe Interactomics Group, Wageningen, The Netherlands., Timmerman HM; NIZO Food Research B.V., Ede, The Netherlands., van Hijum SA; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; NIZO Food Research B.V., Ede, The Netherlands., Schalkwijk J; Department of Dermatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Joost.Schalkwijk@Radboudumc.nl.

المصدر: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2017 Apr; Vol. 139 (4), pp. 1368-1371. Date of Electronic Publication: 2016 Oct 08.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Gram-Positive Cocci*, Intermediate Filament Proteins/*deficiency , Skin/*microbiology, Filaggrin Proteins ; Humans ; Microbiota

المؤلفون: van Steensel MA; Genetic Dermatology, School of Medicine and School of Life Sciences, University of Dundee, Dundee, UK.; Institute of Medical Biology, Singapore city, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore city, Singapore.

المصدر: Experimental dermatology [Exp Dermatol] 2017 Mar; Vol. 26 (3), pp. 225-226.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9301549 Publication Model: Print Cited Medium: Internet ISSN: 1600-0625 (Electronic) Linking ISSN: 09066705 NLM ISO Abbreviation: Exp Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Apoptosis* , TNF-Related Apoptosis-Inducing Ligand*, Humans

المؤلفون: de Vos IJ; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht, The Netherlands.; Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center+, Maastricht, The Netherlands., Koek GH; Department of Internal Medicine, Division of Gastroenterology and Hepatology, Maastricht University Medical Center+, Maastricht, The Netherlands., van Steensel MA; Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.; School of Medicine and School of Life Sciences, University of Dundee, Dundee, United Kingdom.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Feb; Vol. 173 (2), pp. 338-351. Date of Electronic Publication: 2016 Oct 28.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Hemangioma, Cavernous, Central Nervous System/*diagnosis , Hemangioma, Cavernous, Central Nervous System/*genetics, Biopsy ; Carrier Proteins/genetics ; DNA Mutational Analysis ; Female ; Genetic Testing ; Genotype ; Humans ; KRIT1 Protein ; Magnetic Resonance Imaging ; Male ; Microtubule-Associated Proteins/genetics ; Pedigree ; Phenotype ; Proto-Oncogene Proteins/genetics

SCR Disease Name: Familial cerebral cavernous malformation

المؤلفون: van Steensel MA; School of Medicine and School of Life Sciences, University of Dundee, Dundee, UK.; Institute of Medical Biology, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore.

المصدر: Experimental dermatology [Exp Dermatol] 2017 Jan; Vol. 26 (1), pp. 22-23.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9301549 Publication Model: Print Cited Medium: Internet ISSN: 1600-0625 (Electronic) Linking ISSN: 09066705 NLM ISO Abbreviation: Exp Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: RNA* , RNA, Messenger*, Humans ; Up-Regulation