المؤلفون: Morán-Álvarez P; Division of Rheumatology, ERN RITA center, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Universidad Alcalá de Henares, Madrid, Spain., Gianviti A; Division of Nephrology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Diomedi-Camassei F; Division of Pathology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Ginevrino M; Laboratory of Medical Genetics, Translational Cytogenomics Reseach Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., de Benedetti F; Division of Rheumatology, ERN RITA center, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy. fabrizio.debenedetti@opbg.net., Bracaglia C; Division of Rheumatology, ERN RITA center, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.

المصدر: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2024 Jan 18; Vol. 22 (1), pp. 17. Date of Electronic Publication: 2024 Jan 18.

نوع المنشور: Review; Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096 (Electronic) Linking ISSN: 15460096 NLM ISO Abbreviation: Pediatr Rheumatol Online J Subsets: MEDLINE

مواضيع طبية MeSH: Loose Anagen Hair Syndrome* , Lupus Erythematosus, Systemic*/complications , Lupus Erythematosus, Systemic*/diagnosis , Lupus Erythematosus, Systemic*/genetics , Lupus Nephritis*/diagnosis , Lupus Nephritis*/genetics , Lupus Nephritis*/complications , Noonan Syndrome*/complications , Noonan Syndrome*/diagnosis , Noonan Syndrome*/genetics, Adolescent ; Humans ; Male

SCR Disease Name: Noonan-Like Syndrome With Loose Anagen Hair

المؤلفون: Fujishige S; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.; Department of Pediatrics, Obihiro Kyokai Hospital, Obihiro, Japan., Ogawa Y; Hokkaido Renal Pathology Center, Sapporo, Japan., Aoyagi H; Department of Pediatrics, Obihiro Kyokai Hospital, Obihiro, Japan., Okamoto T; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.

المصدر: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2023 Jan-Dec; Vol. 65 (1), pp. e15643.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulonephritis, Membranous*/diagnosis , Loose Anagen Hair Syndrome* , Noonan Syndrome*, Humans ; Receptors, Phospholipase A2 ; Autoantibodies

SCR Disease Name: Noonan-Like Syndrome With Loose Anagen Hair

المؤلفون: Randolph MJ; Dr. Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.; Department of Internal Medicine, HCA East Florida Division: Kendall Regional Medical Center, Miami, Florida, USA., Gwillim EC; Dr. Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA., Nguyen B; Dr. Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.; University of California Riverside School of Medicine, Riverside, California, USA., Tosti A; Dr. Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2022 Jul; Vol. 39 (4), pp. 567-569. Date of Electronic Publication: 2022 Apr 16.

نوع المنشور: 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: Hair Diseases*/diagnosis , Loose Anagen Hair Syndrome*/diagnosis, Alopecia ; Child ; Hair ; Humans ; Self-Help Groups

المؤلفون: Maruwaka K; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Nakajima Y; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan., Yamada T; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Tanaka T; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Inagaki H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2246-2250. Date of Electronic Publication: 2022 Mar 25.

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

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: Abnormalities, Multiple*/pathology , Human Growth Hormone*/genetics , Loose Anagen Hair Syndrome*/diagnosis , Loose Anagen Hair Syndrome*/genetics , Loose Anagen Hair Syndrome*/pathology , Megalencephaly*/pathology , Noonan Syndrome*/diagnosis , Noonan Syndrome*/genetics , Noonan Syndrome*/pathology, Hair/pathology ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Japan ; Mutation

المؤلفون: Pottier C; Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France., Eymieux S; IBiSA Electron Microscopy Facility, University Hospital Center of Tours, Tours, France.; University of Tours, INSERM U1259, Tours, France., Blanchard-Laumonnier E; IBiSA Electron Microscopy Facility, University Hospital Center of Tours, Tours, France.; University of Tours, INSERM U1259, Tours, France., Robert J; Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France., Maruani A; Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France.; Universities of Tours and Nantes, INSERM 1246-SPHERE, 37000, Tours, France., Leducq S; Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France.; Universities of Tours and Nantes, INSERM 1246-SPHERE, 37000, Tours, France.

المصدر: The British journal of dermatology [Br J Dermatol] 2022 Oct; Vol. 187 (4), pp. e156. Date of Electronic Publication: 2022 May 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Hair Diseases*/diagnosis , Hair Diseases*/etiology , Loose Anagen Hair Syndrome*, Hair ; Humans

المؤلفون: Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Solman M; Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 Utrecht, The Netherlands., Bonnard AA; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, 75019 Paris, France.; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, 75010 Paris, France., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany., Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Priolo M; UOSD Genetica Medica, Grandeospedale Metropolitano 'Bianchi-Melacrino-Morelli', 89124 Reggio Calabria, Italia., Chandramouli B; Super Computing Applications and Innovation, CINECA, 40033 Bologna, Italy., Coppola S; National Centre Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Zara E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Department of Biology and Biotechnology 'Charles Darwin', Sapienza University of Rome, 00185 Rome, Italy., Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Kayserili H; Genetic Diseases Evaluation Center, Medical Genetics Department, Koç University School of Medicine, İstanbul 34010, Turkey., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy., Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany., Vial Y; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, 75019 Paris, France.; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, 75010 Paris, France., Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany., Thomas-Teinturier C; Department of Pediatric Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France.; INSERM UMR 1018, Cancer and Radiation Team, CESP, 94800 Villejuif, France., Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies du développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, 75015 Paris, France., Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Mazzanti L; Alma Mater Studiorum, University of Bologna, 40125 Bologna, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.; Department of Woman and Child Health and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy., Chillemi G; Department for Innovation in Biological, Agro-food and Forest systems, Università della Tuscia, 01100 Viterbo, Italy.; Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale delle Ricerche, 70126 Bari, Italy., Zenker M; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany., Cavé H; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, 75019 Paris, France.; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, 75010 Paris, France., den Hertog J; Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 Utrecht, The Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.

المصدر: Human molecular genetics [Hum Mol Genet] 2022 Aug 23; Vol. 31 (16), pp. 2766-2778.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Intracellular Signaling Peptides and Proteins*/genetics , Loose Anagen Hair Syndrome*/genetics, Humans ; Phenotype ; ras Proteins/genetics ; ras Proteins/metabolism

المؤلفون: Wilson P; Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA., Abdelmoti L; Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA., Norcross R; Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA., Jang ER; Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA., Palayam M; Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA., Galperin E; Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA.

المصدر: Journal of cell science [J Cell Sci] 2021 Nov 01; Vol. 134 (21). Date of Electronic Publication: 2021 Nov 05.

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

بيانات الدورية: Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE

مواضيع طبية MeSH: Loose Anagen Hair Syndrome* , MAP Kinase Signaling System*/genetics , Noonan Syndrome*/genetics , Ubiquitin-Specific Peptidase 7*/genetics, Humans ; Intracellular Signaling Peptides and Proteins ; Signal Transduction ; Tumor Suppressor Proteins ; Ubiquitin-Protein Ligases

SCR Disease Name: Noonan-Like Syndrome With Loose Anagen Hair

المؤلفون: Jerjen R; Sinclair Dermatology, East Melbourne, VIC, Australia., Koh WL; Sinclair Dermatology, East Melbourne, VIC, Australia.; Department of Dermatology, Changi General Hospital, Singapore., Sinclair R; Sinclair Dermatology, East Melbourne, VIC, Australia., Bhoyrul B; Sinclair Dermatology, East Melbourne, VIC, Australia.

المصدر: The British journal of dermatology [Br J Dermatol] 2021 May; Vol. 184 (5), pp. 977-978. Date of Electronic Publication: 2021 Feb 18.

نوع المنشور: Letter

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Loose Anagen Hair Syndrome* , Minoxidil*, Child ; Hair ; Humans

المؤلفون: Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Chinton J; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gomez A; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gravina LP; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1256-1260. Date of Electronic Publication: 2021 Jan 25.

نوع المنشور: Case Reports

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 Predisposition to Disease*, Loose Anagen Hair Syndrome/*genetics , Noonan Syndrome/*genetics , Protein Phosphatase 1/*genetics, Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Loose Anagen Hair Syndrome/pathology ; Male ; Mutation/genetics ; Noonan Syndrome/pathology ; Pedigree ; Phenotype

المؤلفون: Zhou P; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Zhu L; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Fan Q; Department of Pediatric, Xinqiao Hospital, Army Medical University, Chongqing, China., Liu Y; Division of Clinical Nutrition, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhang T; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Yang T; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Chen J; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Cheng Q; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Li T; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China., Chen L; Growth, Development, and Mental health of Children and Adolescence Center, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Health and Nutrition, Chongqing, China.; Ministry of Education Key Laboratory of Child Development and Disorder, Chongqing, China.; China International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, China.; National Clinical Research Center for Child Health and Disorders (Chongqing), Chongqing, China.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Aug; Vol. 182 (8), pp. 1967-1971. Date of Electronic Publication: 2020 Jun 01.

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

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: Human Growth Hormone/*administration & dosage , Loose Anagen Hair Syndrome/*drug therapy , Noonan Syndrome/*drug therapy , Protein Phosphatase 1/*genetics, Adult ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/drug therapy ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Humans ; Loose Anagen Hair Syndrome/complications ; Loose Anagen Hair Syndrome/genetics ; Loose Anagen Hair Syndrome/pathology ; Male ; Noonan Syndrome/complications ; Noonan Syndrome/genetics ; Noonan Syndrome/pathology ; Phenotype