المؤلفون: Zhang Y; Henan Provincial Key Laboratory for Pediatric Epilepsy and Immunomedicine, Henan Provincial Clinical Diagnosis and Treatment Center for Children's Neurological Diseases, Children's Hospital of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. whlek6527@126.com., Chen Z, Wang J, Wei G, Niu J, Wang Y, Wang H

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 May 10; Vol. 41 (5), pp. 591-595.

نوع المنشور: Journal Article; Case Reports; English Abstract

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Adenosine Deaminase*/genetics , Developmental Disabilities*/genetics , Pedigree* , Pigmentation Disorders*/genetics , Pigmentation Disorders*/congenital , RNA-Binding Proteins*/genetics, Adult ; Child, Preschool ; Female ; Humans ; Male ; China ; East Asian People/genetics ; Exome Sequencing ; Mutation

SCR Disease Name: Dyschromatosis symmetrica hereditaria 1

عنوان ترانسليتريتد: Hétérochromie irienne causée par le syndrome de Waardenburg chez un nourrisson de 2 mois.

المؤلفون: Lin PA; Services d'ophtalmologie (Lin, Hung, Huang) et de médecine génomique (Hung), Hôpital de l'Université nationale Cheng Kung, École de médecine, Université nationale Cheng Kung; Institut de médecine clinique (Hung), École de médecine, Université nationale Cheng Kung, Tainan, Taiwan., Hung JH; Services d'ophtalmologie (Lin, Hung, Huang) et de médecine génomique (Hung), Hôpital de l'Université nationale Cheng Kung, École de médecine, Université nationale Cheng Kung; Institut de médecine clinique (Hung), École de médecine, Université nationale Cheng Kung, Tainan, Taiwan., Huang YH; Services d'ophtalmologie (Lin, Hung, Huang) et de médecine génomique (Hung), Hôpital de l'Université nationale Cheng Kung, École de médecine, Université nationale Cheng Kung; Institut de médecine clinique (Hung), École de médecine, Université nationale Cheng Kung, Tainan, Taiwan. jackhyh@gmail.com.

المصدر: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne [CMAJ] 2024 May 05; Vol. 196 (17), pp. E610-E611. Date of Electronic Publication: 2024 May 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Canadian Medical Association Country of Publication: Canada NLM ID: 9711805 Publication Model: Electronic Cited Medium: Internet ISSN: 1488-2329 (Electronic) Linking ISSN: 08203946 NLM ISO Abbreviation: CMAJ Subsets: MEDLINE

مواضيع طبية MeSH: Waardenburg Syndrome*/diagnosis , Pigmentation Disorders*/chemically induced , Pigmentation Disorders*/diagnosis , Pigmentation Disorders*/etiology, Humans ; Infant ; Iris Diseases/diagnosis ; Male ; Female

SCR Disease Name: Heterochromia iridis

المؤلفون: Silva EV; Oral Pathology, Department of Stomatology, Public Oral Health, and Forensic Dentistry, Ribeirão Preto Dental School (FORP/USP), University of São Paulo, Ribeirão Preto, Brazil., Martins KH; Oral Pathology, Department of Stomatology, Public Oral Health, and Forensic Dentistry, Ribeirão Preto Dental School (FORP/USP), University of São Paulo, Ribeirão Preto, Brazil., Reyes MRT; Oral Pathology, Department of Stomatology, Public Oral Health, and Forensic Dentistry, Ribeirão Preto Dental School (FORP/USP), University of São Paulo, Ribeirão Preto, Brazil., da Silva ATF; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School (FMRP/USP), University of São Paulo, Ribeirão Preto, Brazil., Dominguete MHL; School of Dentistry, Universidade Vale Do Rio Verde (UninCor), Três Corações, Brazil., Ferreira AC; Centro de Saúde III Dr. Renato Palma Rocha, Santa Rosa de Viterbo, Brazil., León JE; Oral Pathology, Department of Stomatology, Public Oral Health, and Forensic Dentistry, Ribeirão Preto Dental School (FORP/USP), University of São Paulo, Ribeirão Preto, Brazil.; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School (FMRP/USP), University of São Paulo, Ribeirão Preto, Brazil.

المصدر: Journal of cutaneous pathology [J Cutan Pathol] 2024 May; Vol. 51 (5), pp. 348-352. Date of Electronic Publication: 2024 Feb 21.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 0425124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0560 (Electronic) Linking ISSN: 03036987 NLM ISO Abbreviation: J Cutan Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Tattooing* , Pigmentation Disorders*/pathology , Fibroma*/diagnosis , Fibroma*/pathology, Male ; Female ; Humans ; Aged ; Middle Aged ; Mouth Mucosa/pathology ; Giant Cells/pathology

المؤلفون: Cao S; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial, Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China., Liu Y; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial, Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China., Chen S; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial, Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China., Zhao Q; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial, Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China., Xue X; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial, Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China., Huai P; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial, Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China., Zhang F; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial, Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China.

المصدر: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2024 May; Vol. 38 (5), pp. e388-e390. Date of Electronic Publication: 2023 Nov 16.

نوع المنشور: Letter; Case Reports; Journal Article

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

مواضيع طبية MeSH: Pigmentation Disorders*/drug therapy , Janus Kinase 1*/antagonists & inhibitors, Humans ; Purpura/drug therapy ; Male ; Female ; Janus Kinase Inhibitors/therapeutic use ; Middle Aged

SCR Disease Name: Pigmented purpuric eruption

المؤلفون: Moumen M, McMichael AJ

المصدر: Journal of drugs in dermatology : JDD [J Drugs Dermatol] 2024 Feb 01; Vol. 23 (2), pp. 100-102.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Physicians Continuing Education Corporation Country of Publication: United States NLM ID: 101160020 Publication Model: Print Cited Medium: Internet ISSN: 1545-9616 (Print) Linking ISSN: 15459616 NLM ISO Abbreviation: J Drugs Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Hypopigmentation*/diagnosis , Hypopigmentation*/ethnology , Pigmentation Disorders*/diagnosis , Pigmentation Disorders*/ethnology, Aged ; Female ; Humans ; Middle Aged ; Young Adult ; Skin ; Racial Groups

المؤلفون: Jdid R; Chanel Parfums Beauté, Innovation Recherche et Développement, Pantin, France., Pedrazzani M; DAMAE Medical, Application Departement, Paris, France., Lejeune F; Chanel Parfums Beauté, Innovation Recherche et Développement, Pantin, France., Fischman S; DAMAE Medical, Application Departement, Paris, France., Cazorla G; Chanel Parfums Beauté, Innovation Recherche et Développement, Pantin, France., Forestier S; Chanel Parfums Beauté, Innovation Recherche et Développement, Pantin, France., Khalifa YB; Chanel Parfums Beauté, Innovation Recherche et Développement, Pantin, France.

المصدر: Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) [Skin Res Technol] 2024 Feb; Vol. 30 (2), pp. e13623.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Country of Publication: England NLM ID: 9504453 Publication Model: Print Cited Medium: Internet ISSN: 1600-0846 (Electronic) Linking ISSN: 0909752X NLM ISO Abbreviation: Skin Res Technol Subsets: MEDLINE

مواضيع طبية MeSH: Melanins* , Pigmentation Disorders*, Female ; Humans ; Infant, Newborn ; Tomography, Optical Coherence ; Skin/diagnostic imaging ; Epidermis/diagnostic imaging

المؤلفون: Dobroshi K; Alma Mater Europaea College of Medical Sciences 'Rezonanca', Prishtina, Kosovo.

المصدر: Journal of cosmetic dermatology [J Cosmet Dermatol] 2024 Apr; Vol. 23 Suppl 1, pp. 27-32.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: England NLM ID: 101130964 Publication Model: Print Cited Medium: Internet ISSN: 1473-2165 (Electronic) Linking ISSN: 14732130 NLM ISO Abbreviation: J Cosmet Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Pigmentation Disorders*/radiotherapy , Intense Pulsed Light Therapy*, Humans ; Treatment Outcome ; Retrospective Studies ; Patient Satisfaction

المؤلفون: Khazaeli M; Department of Pathology, University at Buffalo, Buffalo, New York, USA., Maruthi VK; Department of Pathology, University at Buffalo, Buffalo, New York, USA., See S; Department of Dermatology, Section of Dermatopathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Ondracek T; Department of Pathology, University at Buffalo, Buffalo, New York, USA., Gerami P; Department of Dermatology, Section of Dermatopathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

المصدر: Journal of cutaneous pathology [J Cutan Pathol] 2024 Apr; Vol. 51 (4), pp. 280-283. Date of Electronic Publication: 2023 Dec 19.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 0425124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0560 (Electronic) Linking ISSN: 03036987 NLM ISO Abbreviation: J Cutan Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Paget's Disease, Mammary*/pathology , Breast Neoplasms*/pathology , Melanoma*/diagnosis , Melanoma*/pathology , Pigmentation Disorders*/pathology, Humans ; Female ; Diagnosis, Differential ; Melanocytes/pathology ; Pigmentation

عنوان ترانسليتريتد: Schlechtes Zeichen: Ein Baby mit verschiedenfarbigen Augen.

المؤلفون: Heyer C; Springer Medizin Verlag GmbH, Aschauer Str. 30, 81549, München, Deutschland.

المصدر: MMW Fortschritte der Medizin [MMW Fortschr Med] 2024 Apr; Vol. 166 (6), pp. 24.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 100893959 Publication Model: Print Cited Medium: Internet ISSN: 1613-3560 (Electronic) Linking ISSN: 14383276 NLM ISO Abbreviation: MMW Fortschr Med Subsets: MEDLINE

مواضيع طبية MeSH: Iris Diseases* , Pigmentation Disorders*, Infant ; Humans

SCR Disease Name: Heterochromia iridis

عنوان ترانسليتريتد: Síndrome de Noonan con múltiples lentigos.

المؤلفون: Martinez-Molina M; Servicio de Dermatología, Hospital Universitari Germans Trias i Pujol, Universidad Autónoma de Barcelona, Barcelona, España. Electronic address: manel.martmol@gmail.com., Fabregat-Pratdepadua M; Servicio de Dermatología, Hospital Universitari Germans Trias i Pujol, Universidad Autónoma de Barcelona, Barcelona, España., Bielsa Marsol I; Servicio de Dermatología, Hospital Universitari Germans Trias i Pujol, Universidad Autónoma de Barcelona, Barcelona, España.

المصدر: Actas dermo-sifiliograficas [Actas Dermosifiliogr] 2024 Apr; Vol. 115 (4), pp. 414-416. Date of Electronic Publication: 2022 Oct 21.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier España Country of Publication: Spain NLM ID: 0373062 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1578-2190 (Electronic) Linking ISSN: 00017310 NLM ISO Abbreviation: Actas Dermosifiliogr Subsets: MEDLINE

مواضيع طبية MeSH: LEOPARD Syndrome*/complications , LEOPARD Syndrome*/diagnosis , LEOPARD Syndrome*/genetics , Noonan Syndrome*/complications , Noonan Syndrome*/diagnosis , Noonan Syndrome*/genetics , Pigmentation Disorders*, Humans ; Mutation ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics