نتائج البحث - "Maria Teresa Romano"

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fca6fd94efe61efaaddb948f936eac1
https://ut3-toulouseinp.hal.science/hal-03180564

Find this article in full text from ProQuest

6

Two Different Platelet Thresholds for Bleeding Prophylaxis in Children with Malignancies or Non-Malignant Disorders: The Bambino Gesù Children's Hospital Experience

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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284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia

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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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

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

9

Congenital Anonychia and Uncombable Hair Syndrome:Coinheritance of Homozygous Mutations in RSPO4 and PADI3

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

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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Extracorporeal photopheresis for paediatric patients experiencing graft-versus-host disease (GVHD)

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

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