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1دورية أكاديمية
المؤلفون: Alfaro-Sepúlveda D; Department of Dermatology, Faculty of Medicine, Universidad de Los Andes, Santiago, Chile., Salinas PP; Faculty of Medicine, Universidad de Chile, Santiago, Chile., Valenzuela F; Department of Dermatology, Faculty of Medicine, Universidad de Chile, Santiago, Chile.; Department of Dermatology, Clínica Universidad de los Andes, Santiago, Chile., Gonzalez CG; Department of Dermatology, Clínica MEDS, Santiago, Chile., Burckhardt-Bravo V; Faculty of Medicine, Universidad de los Andes, Santiago, Chile., Ferrari-Sande D; Faculty of Medicine, Universidad de los Andes, Santiago, Chile.
المصدر: The Australasian journal of dermatology [Australas J Dermatol] 2024 Jun; Vol. 65 (4), pp. 305-310. Date of Electronic Publication: 2024 Feb 13.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Australia NLM ID: 0135232 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-0960 (Electronic) Linking ISSN: 00048380 NLM ISO Abbreviation: Australas J Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Self Report* , Quality of Life* , Papillon-Lefevre Disease*, Humans ; Male ; Female ; Adult ; Cross-Sectional Studies ; Adolescent ; Child ; Middle Aged ; Young Adult ; Child, Preschool ; Brazil ; Colombia ; Treatment Outcome ; Mexico ; Argentina ; Retinoids/therapeutic use ; Hyperhidrosis/therapy ; Nail Diseases/therapy
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2تقرير
المؤلفون: Hsieh CY; Department of Dermatology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan., Lin YC; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Cheng HC; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Chang CY; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Tu WT; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Hsu CK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Tsai TF; Department of Dermatology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
المصدر: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2024 May; Vol. 38 (5), pp. e410-e412. Date of Electronic Publication: 2023 Nov 20.
نوع المنشور: Letter; Case Reports
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 9216037 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-3083 (Electronic) Linking ISSN: 09269959 NLM ISO Abbreviation: J Eur Acad Dermatol Venereol Subsets: MEDLINE
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3دورية أكاديميةRecalcitrant skin ulcers in a patient with Papillon-Lefèvre syndrome: an unusual novel presentation.
المؤلفون: Malhi K; Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Singh S; Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Mustari AP; Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Bishnoi A; Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Machhua S; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Jindal AK; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
المصدر: Clinical and experimental dermatology [Clin Exp Dermatol] 2024 Apr 23; Vol. 49 (5), pp. 512-513.
نوع المنشور: Case Reports; Letter; Journal Article
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Papillon-Lefevre Disease*/complications, Humans ; Male ; Skin Ulcer/pathology ; Skin Ulcer/etiology ; Young Adult ; Adult
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4دورية أكاديمية
المؤلفون: Haghgoo R; Department of Pediatric Dentistry, Faculty of Dentistry, Shahed University, Tehran, Iran., Mehran M; Department of Pediatric Dentistry, Faculty of Dentistry, Shahed University, Tehran, Iran., Banakar M; Department of Pediatric Dentistry, Faculty of Dentistry, Shahed University, Tehran, Iran. Dr.mbanakar@gmail.com.; Dental Research Center, Dentistry Research Institute, Tehran University of Medical Sciences, Tehran, Iran. Dr.mbanakar@gmail.com.
المصدر: Evidence-based dentistry [Evid Based Dent] 2024 Mar; Vol. 25 (1), pp. 3-5. Date of Electronic Publication: 2023 Sep 07.
نوع المنشور: Journal Article; Systematic Review
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100883603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5446 (Electronic) Linking ISSN: 14620049 NLM ISO Abbreviation: Evid Based Dent
مواضيع طبية MeSH: Papillon-Lefevre Disease*/diagnosis , Papillon-Lefevre Disease*/therapy , Papillon-Lefevre Disease*/complications, Humans ; Periodontitis/therapy ; Periodontitis/diagnosis ; Anti-Bacterial Agents/therapeutic use ; Female ; Male ; Adult ; Child ; Oral Hygiene ; Treatment Outcome ; Tooth Extraction
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5دورية أكاديمية
المؤلفون: Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abouzaid MR; Oro-dental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Mostafa MI; Oro-dental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ahmed NE; Oro-dental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. Electronic address: nermeenkandel@gmail.com.
المصدر: Archives of oral biology [Arch Oral Biol] 2024 Feb; Vol. 158, pp. 105869. Date of Electronic Publication: 2023 Dec 06.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 0116711 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1506 (Electronic) Linking ISSN: 00039969 NLM ISO Abbreviation: Arch Oral Biol Subsets: MEDLINE
مواضيع طبية MeSH: Papillon-Lefevre Disease*/genetics , Glaucoma*, Humans ; Cathepsin C/chemistry ; Cathepsin C/genetics ; Egypt ; Mutation, Missense ; Syndrome
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6دورية أكاديمية
المؤلفون: Vályi P; Department of Oral Diagnostics, Faculty of Dentistry, Semmelweis University, Szentkirályi u 47, Budapest, H1085, Hungary. valyi.peter@dent.semmelweis-univ.hu., Wirth R; Department of Biotechnology, University of Szeged, Közép fasor 52, Szeged, H6726, Hungary.; Institute of Plant Biology, Biological Research Center, Temesvári krt 62, Szeged, H6726, Hungary., Minárovits J; Department of Oral Biology and Experimental Dental Research, Faculty of Dentistry, University of Szeged, Tisza L. krt 64, Szeged, H6720, Hungary., Strang O; Department of Biotechnology, University of Szeged, Közép fasor 52, Szeged, H6726, Hungary., Maróti G; Department of Biotechnology, University of Szeged, Közép fasor 52, Szeged, H6726, Hungary.; Institute of Plant Biology, Biological Research Center, Temesvári krt 62, Szeged, H6726, Hungary., Kovács KL; Department of Biotechnology, University of Szeged, Közép fasor 52, Szeged, H6726, Hungary.; Institute of Biophysics, Biological Research Center, Temesvári krt 62, Szeged, H6726, Hungary.
المصدر: BMC oral health [BMC Oral Health] 2024 Jan 31; Vol. 24 (1), pp. 158. Date of Electronic Publication: 2024 Jan 31.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101088684 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6831 (Electronic) Linking ISSN: 14726831 NLM ISO Abbreviation: BMC Oral Health Subsets: MEDLINE
مواضيع طبية MeSH: Papillon-Lefevre Disease* , Periodontitis*/therapy, Humans ; Health Status
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7دورية أكاديمية
المؤلفون: Aghdassi AA; Department of Medicine A, University Medicine Greifswald, Greifswald, Germany., Pham C; Division of Rheumatology, Washington University in St. Louis, St. Louis, MO, USA., Zierke L; Department of Medicine A, University Medicine Greifswald, Greifswald, Germany., Mariaule V; Microbiota Interaction with Human and Animal Team (MIHA), Micalis Institute, AgroParisTech, University of Paris-Saclay, INRAE, Jouy-en-Josas, France., Korkmaz B; INSERM UMR-1100, 'Research Center for Respiratory Diseases' and University of Tours, 37032, Tours, France., Rhimi M; Microbiota Interaction with Human and Animal Team (MIHA), Micalis Institute, AgroParisTech, University of Paris-Saclay, INRAE, Jouy-en-Josas, France. Electronic address: moez.rhimi@inrae.fr.
المصدر: Biochimie [Biochimie] 2024 Jan; Vol. 216, pp. 175-180. Date of Electronic Publication: 2023 Sep 26.
نوع المنشور: Journal Article; Review
بيانات الدورية: Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 1264604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1638-6183 (Electronic) Linking ISSN: 03009084 NLM ISO Abbreviation: Biochimie Subsets: MEDLINE
مواضيع طبية MeSH: Papillon-Lefevre Disease*/genetics , Papillon-Lefevre Disease*/drug therapy , Lung Diseases*, Humans ; Cathepsin C/genetics ; Myeloblastin ; Mutation ; Neutrophils
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8دورية أكاديمية
المؤلفون: Sakai A; Divisions of Dermatology., Shinkuma S; Divisions of Dermatology.; Department of Dermatology, Nara Medical University, Kashihara, Japan., Miura N; Bioinformatics, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-Dori, Chuo-Ku, Niigata, Japan.; Institute for Glyco-core Research (iGCORE), Nagoya University, Furo-cho, Chikusa-ku, Nagoya, Japan., Deguchi T; Divisions of Dermatology., Oginezawa M; Divisions of Dermatology., Nakajima M; Divisions of Dermatology., Katsumi T; Divisions of Dermatology., Hayashi R; Divisions of Dermatology., Abe R; Divisions of Dermatology.
المصدر: The British journal of dermatology [Br J Dermatol] 2024 Jan 23; Vol. 190 (2), pp. 272-274.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Papillon-Lefevre Disease*/pathology , Skin Diseases*, Humans ; Cathepsin C ; Seasons
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9دورية أكاديميةCathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.
المؤلفون: McCarthy RL; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, The Royal London Hospital, Barts Health NHS Trust, London, UK., Gnanappiragasam D; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester, UK., Scorer M; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester, UK., Taylor M; Department of Dermatology, Epsom and St Helier University Hospitals NHS Trust, Surrey, UK., O'Toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, The Royal London Hospital, Barts Health NHS Trust, London, UK.
المصدر: Clinical and experimental dermatology [Clin Exp Dermatol] 2023 Oct 25; Vol. 48 (11), pp. 1298-1300.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Papillon-Lefevre Disease*/genetics , Acro-Osteolysis*, Humans ; Cathepsin C/genetics ; Mutation
SCR Disease Name: Keratosis palmoplantaris with periodontopathia and onychogryposis
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10دورية أكاديمية
المؤلفون: Chitsamankhun C; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand., Siritongtaworn N; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand., Fournier BPJ; Dental Faculty, Oral Biology Department, Reference Center of Oral and Dental Rare Diseases, Rothschild Hospital, Université Paris Cité, Paris, France., Sriwattanapong K; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand., Theerapanon T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand., Samaranayake L; Faculty of Dentistry, University of Hong Kong, Hospital Road, Hong Kong, Hong Kong.; Office of Research Affairs, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand. thantrira.p@chula.ac.th.; Graduate Program in Geriatric and Special Patients Care, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand. thantrira.p@chula.ac.th.
المصدر: Journal of translational medicine [J Transl Med] 2024 Aug 20; Vol. 22 (1), pp. 777. Date of Electronic Publication: 2024 Aug 20.
نوع المنشور: Journal Article; Review
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE
مواضيع طبية MeSH: Cathepsin C*/metabolism , Cathepsin C*/genetics , COVID-19*, Humans ; Animals ; Papillon-Lefevre Disease/genetics ; SARS-CoV-2 ; Health