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المؤلفون: F. U. Basmanav, David J. P. Ferguson, Guy Serre, Aline Büchner, Susannah Mary Creighton George, Damian J. Ralser, H. Wiegmann, Vinzenz Oji, Sabrina Wolf, F. Valentin, Ulrike Blume-Peytavi, Eli Sprecher, Anette Bygum, Laura Cau, Henning Hamm, Peter Nuernberg, Marie-Claire Méchin, Aylar Tafazzoli, Regina C. Betz, Maria Teresa Romano, Nicola Wagner, Arzu Kiliç, N. Garcia Bartels, Lisa Weibel, Michel Simon, Anne Huchenq, Paul Farrant, Janine Altmueller, Ramon Grimalt, Holger Thiele
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Abstracts Collection, Uncombable hair syndrome, Hair shaft, Genetics, medicine, Biology, medicine.disease, Gene, Genetics (clinical), Cell biology
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المؤلفون: Sugirthan Sivalingam, Sheetal Kumar, Karl Heinz Grzeschik, Fabian Hauck, Xiujuan Sun, Armand Bottani, Janine Altmüller, Shangzhi Dai, Peter M. Kroisel, Fanny Kortüm, Aytaj Humbatova, Scott D. Walter, Yuan Wu, Wen Qin, Xinwu Niu, Mingyang Lee, Regina C. Betz, Gianluca Tadini, Kerstin Kutsche, Andreas Buness, Katta M. Girisha, Songmei Geng, Maria Teresa Romano, Huijun Wang, Yuanxiang Liu, Lin Ma, Susanne Motameny, Shuxia Yang, Nicole Cesarato, Zhimiao Lin, Xiaopeng Wang, Ran Mo, Anne Marie Calza, Dorothea Bornholdt
المصدر: Am J Hum Genet
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Chromosomal translocation, Biology, Article, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Transcription (biology), Keratin, Genetics, medicine, Humans, Child, Gene, Transcription factor, Genetics (clinical), chemistry.chemical_classification, Arthrogryposis, integumentary system, Genetic disorder, Keratosis, Middle Aged, medicine.disease, Molecular biology, Sterol regulatory element-binding protein, Pedigree, 030104 developmental biology, Phenotype, chemistry, Gene Expression Regulation, Child, Preschool, Mutation, Hypotrichosis, Female, Sterol Regulatory Element Binding Protein 1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9680a4ec39a1ad19d3c325026208f5
https://europepmc.org/articles/PMC7332643/ -
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المؤلفون: A. Humbatova, P Kokordelis, N. Nouri, Aylar Tafazzoli, Maria Teresa Romano, Sabrina Wolf, Mansour Salehi, Jorge Frank, N. Dilaver, M. Behnam, Regina C. Betz, Reza Maroofian
المصدر: British Journal of Dermatology. 178:e265-e267
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ectodermal dysplasia, Mutagenesis (molecular biology technique), Heterozygote advantage, Dermatology, Consanguinity, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, LACRIMAL DUCT OBSTRUCTION, Nail (anatomy), medicine, Insertion
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المؤلفون: Liron, Malki, Ofer, Sarig, Maria-Teresa, Romano, Marie-Claire, Méchin, Alon, Peled, Mor, Pavlovsky, Emily, Warshauer, Liat, Samuelov, Laura, Uwakwe, Valeria, Briskin, Janan, Mohamad, Andrea, Gat, Ofer, Isakov, Tom, Rabinowitz, Noam, Shomron, Noam, Adir, Michel, Simon, Amy, McMichael, Ncoza C, Dlova, Regina C, Betz, Eli, Sprecher
المصدر: The New England journal of medicine. 380(9)
مصطلحات موضوعية: Adult, Heterozygote, Chi-Square Distribution, Scalp, Adolescent, Alopecia, Sequence Analysis, DNA, Middle Aged, Pedigree, Black or African American, Cicatrix, Protein-Arginine Deiminase Type 3, Mutagenesis, Mutation, Protein-Arginine Deiminases, Humans, Exome, Female, Genetic Predisposition to Disease, Age of Onset, Hair
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المؤلفون: Regina C. Betz, Ofer Isakov, Maria-Teresa Romano, Laura N Uwakwe, L. Malki, Emily Warshauer, Noam Adir, Valeria Briskin, Michel Simon, Amy J. McMichael, Eli Sprecher, Alon Peled, Ofer Sarig, Marie-Claire Méchin, Ncoza C. Dlova, J. Mohamad, Andrea Gat, Tom Rabinowitz, M. Pavlovsky, Liat Samuelov, Noam Shomron
المساهمون: CARBILLET, Véronique, Tel Aviv Sourasky Medical Center [Te Aviv], Sackler Faculty of Medicine, Tel Aviv University (TAU), Institut für Genetik - Universität Bonn / Institute of Genetics - University of Bonn, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Wake Forest Baptist Medical Center, Schulich faculty of chemistry, Technion - Israel Institute of Technology [Haifa], University of KwaZulu-Natal [Durban, Afrique du Sud] (UKZN), Tel Aviv University [Tel Aviv], University of KwaZulu-Natal (UKZN)
المصدر: New England Journal of Medicine
New England Journal of Medicine, 2019, 380 (9), pp.833-841. ⟨10.1056/NEJMoa1816614⟩
New England Journal of Medicine, Massachusetts Medical Society, 2019, 380 (9), pp.833-841. ⟨10.1056/NEJMoa1816614⟩مصطلحات موضوعية: Central centrifugal cicatricial alopecia, medicine.medical_specialty, MESH: Sequence Analysis, DNA, MESH: Mutation, MESH: Protein-Arginine Deiminase Type 3, MESH: Chi-Square Distribution, MESH: Pedigree, MESH: Age of Onset, Scarring alopecia, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Alopecia / genetics, medicine, 030212 general & internal medicine, skin and connective tissue diseases, MESH: Heterozygote, MESH: Mutagenesis, MESH: Adolescent, MESH: African Americans / genetics, MESH: Exome, MESH: Humans, MESH: Middle Aged, integumentary system, business.industry, MESH: Genetic Predisposition to Disease, MESH: Adult, General Medicine, MESH: Protein-Arginine Deiminases / metabolism, MESH: Scalp / pathology, medicine.disease, Dermatology, 3. Good health, stomatognathic diseases, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Protein-Arginine Deiminases / genetics, MESH: Cicatrix / genetics, MESH: Alopecia / ethnology, business, MESH: Female, MESH: Hair / growth & development
وصف الملف: application/pdf
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المؤلفون: Alessandra Paoloni, Mauro Montanari, Valentina De Nava, Andrea Onetti Muda, Guglielmo Trua, Luisa Strocchio, Costantino Damico, Antonio Cappelli, Francesco Lamura, Alessandra Bernardi, Elisabetta Cicchetti, Maria Teresa Romano, Pierpaolo Berti, Katia Girardi, Laila Costantino
المصدر: Blood. 134:1173-1173
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine.medical_treatment, Immunology, Non malignant, Cell Biology, Hematology, Hematopoietic stem cell transplantation, medicine.disease, Biochemistry, Chemotherapy regimen, Hospital experience, Transplantation, Platelet transfusion, Acute lymphocytic leukemia, medicine, Platelet, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::59d471e6515dc45d185ef82dece4a1f9
https://doi.org/10.1182/blood-2019-129132 -
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المؤلفون: Noam Shomron, Ofer Sarig, Eli Sprecher, Ncoza C. Dlova, Marie-Claire Méchin, Maria Teresa Romano, L. Malki, Regina C. Betz, Amy J. McMichael, Michel Simon
المصدر: Journal of Investigative Dermatology. 139:S263
مصطلحات موضوعية: Pathogenesis, Central centrifugal cicatricial alopecia, Pathology, medicine.medical_specialty, business.industry, medicine, Cell Biology, Dermatology, medicine.disease, business, Molecular Biology, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6ab179a8c9db81a01183a7d8efc6e7a
https://doi.org/10.1016/j.jid.2019.07.285 -
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المؤلفون: Jorge Frank, Jürgen Ellwanger, Alessandra Baumer, Peter Nürnberg, P Kokordelis, Alexander Rupp, Sabrina Wolf, Maria Teresa Romano, Aylar Tafazzoli, Dieter Metze, Reto Gambon, Sugirthan Sivalingam, Marta Bertolini, Ralf Paus, Stefan Holdenrieder, Janine Altmüller, Dieter Lütjohann, Regina C. Betz, Holger Thiele, Maximilian Mattern, Nicolai Kohlschmidt, Matthias Geyer
المساهمون: University of Zurich, Betz, Regina C
المصدر: Romano, M-T, Tafazzoli, A, Mattern, M, Sivalingam, S, Wolf, S, Rupp, A, Thiele, H, Altmüller, J, Nürnberg, P, Ellwanger, J, Gambon, R, Baumer, A, Kohlschmidt, N, Metze, D, Holdenrieder, S, Paus, R, Lütjohann, D, Frank, J, Geyer, M, Bertolini, M, Kokordelis, P & Betz, R C 2018, ' Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex ', American Journal of Human Genetics, vol. 103, no. 5, pp. 777-785 . https://doi.org/10.1016/j.ajhg.2018.09.011
مصطلحات موضوعية: Keratinocytes, Male, 0301 basic medicine, 10039 Institute of Medical Genetics, Mutant, Endoplasmic Reticulum, Hypotrichosis, 030207 dermatology & venereal diseases, 0302 clinical medicine, Mutant protein, Intramolecular Transferases, Genetics (clinical), integumentary system, LSS, cholesterol biosynthetic pathway, Pedigree, 3. Good health, Body hair, Cholesterol, medicine.anatomical_structure, Female, Adult, 2716 Genetics (clinical), Adolescent, 610 Medicine & health, Genes, Recessive, Biology, Young Adult, 03 medical and health sciences, 1311 Genetics, hypothrichosis, Report, Genetics, medicine, Humans, Allele, Gene, Alleles, whole, Alopecia, Hair follicle, medicine.disease, Molecular biology, 030104 developmental biology, Hair loss, Mutation, biology.protein, 570 Life sciences, biology, lanosterol synthase, Hair Diseases, exome sequencing, Hair, Lanosterol synthase
وصف الملف: 1_s2.0_S0002929718303227_main.pdf - application/pdf; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfe08d17f75ece1351c9c37bcce8672
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المؤلفون: Julia Yu-Yun Lee, John A. McGrath, Arti Nanda, Michael A. Simpson, Christos Tziotzios, Hsin Yu Huang, Regina C. Betz, John Y.W. Lee, Chankiat Songsantiphap, Maria Teresa Romano, Chao Kai Hsu, Hejab Al-Ajmi, Ellie Rashidghamat
المصدر: Hsu, C K, Romano, M T, Nanda, A, Rashidghamat, E, Lee, J Y W, Huang, H Y, Songsantiphap, C, Lee, J Y Y, Al-Ajmi, H, Betz, R C, Simpson, M A, McGrath, J A & Tziotzios, C 2017, ' Congenital Anonychia and Uncombable Hair Syndrome : Coinheritance of Homozygous Mutations in RSPO4 and PADI3 ', Journal of Investigative Dermatology, vol. 137, no. 5, pp. 1176-1179 . https://doi.org/10.1016/j.jid.2016.12.015
مصطلحات موضوعية: 0301 basic medicine, Genetics, Family health, Ectodermal dysplasia, Uncombable hair syndrome, Wild type, Cell Biology, Dermatology, Biology, medicine.disease, Biochemistry, Phenotype, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), medicine, Anonychia, PADI3, Molecular Biology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da220271149a0109821b4807c41d8ec5
https://kclpure.kcl.ac.uk/en/publications/6dc43094-002d-4344-bf99-35a8d001e21b -
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المؤلفون: Giuseppe Milano, Letizia Pomponia Brescia, Caterina Giovanna Valentini, Maria Teresa Romano, Franco Locatelli, Stefano Ceccarelli, Sergio Rutella
مصطلحات موضوعية: Adult, Graft Rejection, Male, medicine.medical_specialty, Childhood leukemia, Adolescent, medicine.medical_treatment, education, Graft vs Host Disease, Disease, Graft-versus-host disease, fluids and secretions, Photopheresis, Solid organ transplantation, immune system diseases, Extracorporeal Photopheresis, Medicine, Humans, Intensive care medicine, Child, Paediatric patients, business.industry, Stem cell transplantation, Hematology, Organ Transplantation, medicine.disease, Lymphoma, Lymphoma, T-Cell, Cutaneous, Clinical trial, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Acute Disease, Chronic Disease, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f30414073017582a79ca1aead06cfe
https://hdl.handle.net/10807/242598