المؤلفون: Steffann J; UMR1163, Institut Imagine Unité, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., De Oliveira Santos J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Zelbin AL; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Hadj-Rabia S; UMR1163, Institut Imagine Unité, Université Paris Cité, Paris, France.; Service de Dermatologie, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Charbit-Henrion F; UMR1163, Institut Imagine Unité, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Petit F; Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63591. Date of Electronic Publication: 2024 Mar 27.

نوع المنشور: Case Reports; Journal Article

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: Incontinentia Pigmenti*/genetics , Incontinentia Pigmenti*/pathology , I-kappa B Kinase*/genetics , Mutation*/genetics , Pedigree*, Humans ; Female ; X Chromosome Inactivation/genetics ; Male ; Recurrence ; Phenotype ; Genetic Predisposition to Disease

المؤلفون: Çetinarslan T; Manisa Celal Bayar University, Department of Dermatology and Venereology, Manisa, Turkey. t_sarmis@windowslive.com., Masat AK; Manisa Celal Bayar University, Department of Dermatology and Venereology, Manisa, Turkey., Türel Ermertcan A; Manisa Celal Bayar University, Department of Dermatology and Venereology, Manisa, Turkey., Fölster Holst R; Department of Dermatology-Venereology and Allergology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.

المصدر: Acta dermato-venereologica [Acta Derm Venereol] 2024 Jun 11; Vol. 104, pp. adv40270. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MJS Publishing Country of Publication: Sweden NLM ID: 0370310 Publication Model: Electronic Cited Medium: Internet ISSN: 1651-2057 (Electronic) Linking ISSN: 00015555 NLM ISO Abbreviation: Acta Derm Venereol Subsets: MEDLINE

مواضيع طبية MeSH: Incontinentia Pigmenti*/pathology , Incontinentia Pigmenti*/complications , Incontinentia Pigmenti*/genetics , Dermoscopy* , Alopecia*/pathology, Humans ; Female ; Cicatrix/pathology ; Cicatrix/etiology ; Predictive Value of Tests

المؤلفون: Yin L; Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China., Li Z; Department of Imaging, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), Xi'an, 86-710003, Shaanxi, People's Republic of China., Zhan W; Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China., Kang Y; Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China., Tian Q; Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China., Li D; Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China. li_dan6397@163.com., Zhang H; Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China. langhua_crystal@stu.xjtu.edu.cn.

المصدر: BMC neuroscience [BMC Neurosci] 2024 May 21; Vol. 25 (1), pp. 25. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100966986 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2202 (Electronic) Linking ISSN: 14712202 NLM ISO Abbreviation: BMC Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Incontinentia Pigmenti*/pathology , Incontinentia Pigmenti*/genetics, Humans ; Infant ; Female ; Retrospective Studies ; Male ; China ; Infant, Newborn ; Magnetic Resonance Imaging ; Brain/pathology ; Brain/diagnostic imaging ; Child, Preschool ; East Asian People

المؤلفون: Guo Y; Department of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China., Bu W; Department of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China., Jia W; Department of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China., Zhang Y; Department of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China., Li C; Department of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 351-353. Date of Electronic Publication: 2023 Oct 18.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Ectodermal Dysplasia*/genetics , Immunologic Deficiency Syndromes*/genetics , Incontinentia Pigmenti*/diagnosis , Incontinentia Pigmenti*/genetics , Incontinentia Pigmenti*/pathology, Female ; Humans ; I-kappa B Kinase/genetics ; Mutation ; Skin/pathology

المؤلفون: Herlin LK; Department of Dermatology, Aarhus University Hospital, Palle Juul Jensens Boulevard 67, Aarhus N, 8200, Denmark. laujoerg@rm.dk.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. laujoerg@rm.dk., Sørensen SB; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Graakjaer JA; Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark., Andersen S; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Schmidt SAJ; Department of Dermatology, Aarhus University Hospital, Palle Juul Jensens Boulevard 67, Aarhus N, 8200, Denmark.; Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark., Sommerlund M; Department of Dermatology, Aarhus University Hospital, Palle Juul Jensens Boulevard 67, Aarhus N, 8200, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Mogensen TH; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark.

المصدر: Journal of clinical immunology [J Clin Immunol] 2024 May 25; Vol. 44 (6), pp. 136. Date of Electronic Publication: 2024 May 25.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Incontinentia Pigmenti*/genetics , Incontinentia Pigmenti*/diagnosis , X Chromosome Inactivation* , NF-kappa B*/metabolism, Humans ; Female ; Recurrence ; I-kappa B Kinase/genetics ; I-kappa B Kinase/metabolism

المؤلفون: Zhang LW; Department of Dermatovenereology, Chengdu Second People's Hospital, Chengdu, Sichuan, China., Wu J; Sexually Transmitted Disease Institute, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.

المصدر: Journal of cutaneous medicine and surgery [J Cutan Med Surg] 2024 Mar-Apr; Vol. 28 (2), pp. 210. Date of Electronic Publication: 2024 Jan 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Publications Country of Publication: United States NLM ID: 9614685 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-7109 (Electronic) Linking ISSN: 12034754 NLM ISO Abbreviation: J Cutan Med Surg Subsets: MEDLINE

مواضيع طبية MeSH: Incontinentia Pigmenti*/diagnosis, Humans

المؤلفون: Çetinarslan T; Department of Dermatology, Manisa Celal Bayar University, Manisa, Turkey., Fölster-Holst R; Department of Dermatology, Venereology and Allergology, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany., Van Gysel D; Department of Pediatrics, OLV Hospital Aalst, Aalst, Belgium.; Interdisciplinary Unit of Pediatric Dermatology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium., Buchner M; Department of Dermatology, Venereology and Allergology, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany., Happle R; Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2024 Jan-Feb; Vol. 41 (1), pp. 182-183.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Incontinentia Pigmenti*/diagnosis , Incontinentia Pigmenti*/pathology, Infant, Newborn ; Humans ; Male ; Skin/pathology ; Blister/pathology ; Eosinophils/pathology ; Rare Diseases/pathology

المؤلفون: Acos RLC; Department of Dermatology, Philippine General Hospital, University of the Philippines Manila, Philippines., Chang YH; Department of Dermatology.; Education Center., Lin YC; Department of Dermatology.; International Center for Wound Repair and Regeneration (iWRR)., Salazar-Paras DKR; Department of Dermatology, Philippine General Hospital, University of the Philippines Manila, Philippines., Fujimura Y; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.; Department of Dermatology, KKR Sapporo Medical Center, Sapporo, Japan., Nakano H; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan., Akasaka E; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan., Natsuga K; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan., Guevara BEK; Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines., McGrath JA; St John's Institute of Dermatology, School of Basic & Medical Biosciences, King's College London, London, UK., Hsu CK; Department of Dermatology, Philippine General Hospital, University of the Philippines Manila, Philippines.; International Center for Wound Repair and Regeneration (iWRR).; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

المصدر: Clinical and experimental dermatology [Clin Exp Dermatol] 2024 Feb 14; Vol. 49 (3), pp. 298-301.

نوع المنشور: 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: Incontinentia Pigmenti*/genetics, Humans ; Male ; Female ; Mosaicism ; Phenotype ; I-kappa B Kinase/genetics

المؤلفون: Sonoda M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, 812-8582, Fukuoka, Japan., Ishimura M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, 812-8582, Fukuoka, Japan. ishimura.masataka.048@m.kyushu-u.ac.jp., Ogata R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, 812-8582, Fukuoka, Japan.; Department of Pediatrics, National Hospital Organization Kokura Medical Center, Kokura, Japan., Oda H; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Cologne Excellence Cluster On Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.; Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, 812-8582, Fukuoka, Japan.

المصدر: Journal of clinical immunology [J Clin Immunol] 2023 Nov; Vol. 43 (8), pp. 1743-1746. Date of Electronic Publication: 2023 Jul 11.

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

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Immunologic Deficiency Syndromes*/complications , Immunologic Deficiency Syndromes*/diagnosis , Immunologic Deficiency Syndromes*/genetics , Incontinentia Pigmenti*/diagnosis , Incontinentia Pigmenti*/genetics, Humans ; Male

المؤلفون: Mou W; Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Zhao Z; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Gao L; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Fu L; Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Li J; Department of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China., Jiao A; Department of Interventional Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Peng Y; Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Yu T; Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Guo Y; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Chen L; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Wang H; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Liu J; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Qin Q; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Xu B; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China., Liu X; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China. liuxiu_yun@126.com., He J; Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China. hejianxin1970@126.com., Gui J; Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. guijingang@bch.com.cn.

المصدر: Journal of clinical immunology [J Clin Immunol] 2023 Nov; Vol. 43 (8), pp. 2165-2180. Date of Electronic Publication: 2023 Oct 13.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Immunologic Deficiency Syndromes* , Incontinentia Pigmenti*/diagnosis , Incontinentia Pigmenti*/genetics, Child ; Female ; Humans ; Young Adult ; HEK293 Cells ; I-kappa B Kinase/genetics ; Leukocytes, Mononuclear ; Lipopolysaccharides ; Mutation, Missense ; Tumor Necrosis Factor-alpha