المؤلفون: Zhang JC; Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, Chengdu, People's Republic of China; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, People's Republic of China., Liu HQ; Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, Chengdu, People's Republic of China; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, People's Republic of China. Electronic address: hongqian.liu@163.com.

المصدر: Asian journal of surgery [Asian J Surg] 2024 Apr; Vol. 47 (4), pp. 2067-2068. Date of Electronic Publication: 2024 Jan 19.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8900600 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0219-3108 (Electronic) Linking ISSN: 10159584 NLM ISO Abbreviation: Asian J Surg Subsets: MEDLINE

مواضيع طبية MeSH: LEOPARD Syndrome*/complications , LEOPARD Syndrome*/diagnosis , LEOPARD Syndrome*/genetics, Female ; Humans ; Fetus ; Nervous System

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

المؤلفون: Wang T; Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China., Lin Y; Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China., Sun L; Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China., Mao L; Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China., Gao X; Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China., Liu X; Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China., Liu H; Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China.

المصدر: Journal of cosmetic dermatology [J Cosmet Dermatol] 2024 Feb; Vol. 23 (2), pp. 711-713. Date of Electronic Publication: 2023 Sep 16.

نوع المنشور: Letter

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

مواضيع طبية MeSH: LEOPARD Syndrome*/complications , LEOPARD Syndrome*/diagnosis , LEOPARD Syndrome*/genetics , Lentigo*/complications , Lentigo*/diagnosis, Humans

المؤلفون: Palacios-Diaz RD; Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain., Pozuelo-Ruiz M; Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain., De Unamuno-Bustos B; Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain. blancaunamuno@yahoo.es., Llavador-Ros M; Pathology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain., Botella-Estrada R; Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.

المصدر: Acta dermato-venereologica [Acta Derm Venereol] 2024 Jan 08; Vol. 104, pp. adv14720. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: 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: LEOPARD Syndrome*/diagnosis , LEOPARD Syndrome*/genetics , Melanoma*/genetics, Humans ; Mutation ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics

المؤلفون: Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy (E.M., R.A., M.L., M.C., M.G.R., G.L.)., Prosnitz A; Congenital Heart Center, Levine Children's Hospital, Atrium Health, Charlotte, NC (A.P.)., Aiello R; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy (E.M., R.A., M.L., M.C., M.G.R., G.L.)., Lioncino M; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy (E.M., R.A., M.L., M.C., M.G.R., G.L.)., Norrish G; Centre for Pediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Science, University College London, United Kingdom (G.N., J.P.K.).; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom (G.N., J.P.K.)., Caiazza M; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy (E.M., R.A., M.L., M.C., M.G.R., G.L.)., Drago F; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy (F.D., G.C.)., Beattie M; Department of Cardiology and Division of Genetics, Department of Pediatrics, Boston Children's Hospital, MA (M.B., S.D.C., A.E.R.)., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy (M.T.)., Russo MG; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy (E.M., R.A., M.L., M.C., M.G.R., G.L.)., Colan SD; Department of Cardiology and Division of Genetics, Department of Pediatrics, Boston Children's Hospital, MA (M.B., S.D.C., A.E.R.)., Calcagni G; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy (F.D., G.C.)., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY (B.D.G.)., Kaski JP; Centre for Pediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Science, University College London, United Kingdom (G.N., J.P.K.).; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom (G.N., J.P.K.)., Roberts AE; Department of Cardiology and Division of Genetics, Department of Pediatrics, Boston Children's Hospital, MA (M.B., S.D.C., A.E.R.)., Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy (E.M., R.A., M.L., M.C., M.G.R., G.L.).; Institute of Cardiovascular Sciences, University College of London and St Bartholomew's Hospital, United Kingdom (G.L.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Aug; Vol. 16 (4), pp. 350-358. Date of Electronic Publication: 2023 May 18.

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

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: LEOPARD Syndrome*/diagnosis , LEOPARD Syndrome*/genetics , Cardiomyopathy, Hypertrophic*/diagnosis , Cardiomyopathy, Hypertrophic*/genetics , Noonan Syndrome*/diagnosis , Noonan Syndrome*/genetics, Child ; Adult ; Humans ; Infant ; Child, Preschool ; Retrospective Studies ; Ventricular Remodeling

المؤلفون: Östman-Smith I; Institute of Clinical Specialties, Sahlgrenska Academy, Gothenburg University & Children´s Heart Center, Queen Silvia Children´s Hospital, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Aug; Vol. 16 (4), pp. 359-362. Date of Electronic Publication: 2023 Jun 16.

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

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

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

المؤلفون: Velayutham R; Department of Cardiology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), JIPMER Campus Road, Dhanvantari Nagar, Puducherry 605006, India., Ahmed AS; Department of Cardiology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), JIPMER Campus Road, Dhanvantari Nagar, Puducherry 605006, India.

المصدر: QJM : monthly journal of the Association of Physicians [QJM] 2023 May 27; Vol. 116 (5), pp. 375-376.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Published for the Association of Physicians of Great Britain and Ireland by the Oxford University Press Country of Publication: England NLM ID: 9438285 Publication Model: Print Cited Medium: Internet ISSN: 1460-2393 (Electronic) Linking ISSN: 14602393 NLM ISO Abbreviation: QJM Subsets: MEDLINE

مواضيع طبية MeSH: LEOPARD Syndrome*/complications , LEOPARD Syndrome*/diagnosis , Cardiomyopathy, Hypertrophic*/complications , Cardiomyopathy, Hypertrophic*/diagnostic imaging, Humans

المؤلفون: Van den Heurck JJ; Department of Ophthalmology, Antwerp University Hospital, Edegem (Antwerp), Belgium ; and.; Department of Ophthalmology, Sint-Augustinus Hospital, Wilrijk (Antwerp), Belgium ., Boven KB; Department of Ophthalmology, Antwerp University Hospital, Edegem (Antwerp), Belgium ; and., Claes CC; Department of Ophthalmology, Antwerp University Hospital, Edegem (Antwerp), Belgium ; and.; Department of Ophthalmology, Sint-Augustinus Hospital, Wilrijk (Antwerp), Belgium .

المصدر: Retinal cases & brief reports [Retin Cases Brief Rep] 2023 Mar 01; Vol. 17 (2), pp. 212-218. Date of Electronic Publication: 2023 Jan 21.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE

مواضيع طبية MeSH: Optic Disk*/abnormalities , Coloboma*/complications , Coloboma*/diagnosis , Coloboma*/surgery , LEOPARD Syndrome*/complications , LEOPARD Syndrome*/surgery , Retinal Diseases*/complications , Retinal Detachment*/surgery , Eye Abnormalities*/complications , Eye Abnormalities*/diagnosis , Eye Abnormalities*/surgery , Macular Degeneration*/complications , Pigmentation Disorders*/complications, Female ; Humans ; Child ; Vitrectomy/methods ; Tomography, Optical Coherence

SCR Disease Name: Coloboma of optic nerve

المؤلفون: Bajia D; Department of Pediatric Oncology, Hematology and Transplantology, Poznan University of Medical Sciences, Ul. Fredry 10, 61701 Poznan, Poland., Bottani E; Department of Diagnostics and Public Health, Section of Pharmacology, University of Verona, Piazzale L. A. Scuro 10, 37134 Verona, Italy., Derwich K; Department of Pediatric Oncology, Hematology and Transplantology, Poznan University of Medical Sciences, Ul. Fredry 10, 61701 Poznan, Poland.

المصدر: Cells [Cells] 2022 Oct 01; Vol. 11 (19). Date of Electronic Publication: 2022 Oct 01.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: LEOPARD Syndrome*/genetics , Noonan Syndrome*/genetics , Noonan Syndrome*/pathology, Energy Metabolism/genetics ; Germ-Line Mutation ; Humans ; Mitochondria/genetics ; Mitochondria/pathology ; ras Proteins/genetics

المؤلفون: Yi JS; Department of Pharmacology, Yale University School of Medicine, New Haven, CT, 06520, USA. jae-sung.yi@yale.edu., Perla S; Department of Pharmacology, Yale University School of Medicine, New Haven, CT, 06520, USA., Huang Y; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, 06520, USA., Mizuno K; Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Giordano FJ; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, 06520, USA., Vinks AA; Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH, USA., Bennett AM; Department of Pharmacology, Yale University School of Medicine, New Haven, CT, 06520, USA.; Program in Integrative Cell Signaling and Neurobiology of Metabolism, Yale University School of Medicine, New Haven, CT, 06520, USA.

المصدر: Cardiovascular drugs and therapy [Cardiovasc Drugs Ther] 2022 Aug; Vol. 36 (4), pp. 589-604. Date of Electronic Publication: 2021 Mar 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Kluwer Academic For The International Society For Cardiovascular Pharmacotherapy Country of Publication: United States NLM ID: 8712220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7241 (Electronic) Linking ISSN: 09203206 NLM ISO Abbreviation: Cardiovasc Drugs Ther Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Hypertrophic*/drug therapy , Cardiomyopathy, Hypertrophic*/genetics , LEOPARD Syndrome*/drug therapy , LEOPARD Syndrome*/genetics , LEOPARD Syndrome*/metabolism, Animals ; Dasatinib/pharmacology ; Dasatinib/therapeutic use ; Disease Models, Animal ; Mice ; Mutation