المؤلفون: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1376447/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3fe63f5679824882a78a685fa671eea6

المؤلفون: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

المصدر: Frontiers in Neurology, Vol 13 (2023)

مصطلحات موضوعية: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1072256/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/8ddb7b61f9a94a7d98d8b68e6ba8ddab

المؤلفون: Marco Zecca, Barbara Gardella, Elena Grossi, Roberto Giorda, Elisa Fazzi, Simona Orcesi, Anna Cavallini, Livio Provenzi, Renato Borgatti, Pierangelo Veggiotti, Serena Grumi, Giacomo Biasucci, Renza Bonini, Lidia Decembrino, Bruno Drera, Rossana Falcone, Roberta Giacchero, Renata Nacinovich, Camilla Pisoni, Federico Prefumo, Barbara Scelsa, Maria Valentina Spartà, Patrizia Accorsi, Rossana Bucci, Elisa Cavalleri, Laura Malerba, Paola Martelli, Mario Motta, Sonia Zatti, Emanuela Bertazzoli, Giovanna Centinaio, Maria Roberta Longo, Benedetta Chiara Pietra, Caterina Sabatini, Alberto Chiara, Giuliana Del Campo, Luisa Magnani, Dario Pantaleo, Arsenio Spinillo, Giulia Bensi, Cristiana Pavesi, Daniela Russo, Gaia Kullmann

المصدر: BMJ Open, Vol 10, Iss 12 (2020)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/10/12/e044585.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/140886049d5a49c88b0ffb8705d7f57d

المؤلفون: Giulia Tanzi, Ramona Bertoni, Gioachino Caresana, Giuseppina Ferrero, Bruno Drera, Elena Varotti, Marco Ungari, Monica Trombatore, Marino Daniel Gusolfino, Laura Manotti, Marta Claudia Frittoli

المصدر: The American Journal of dermatopathology. 43(3)

مصطلحات موضوعية: Systemic disease, Pathology, medicine.medical_specialty, Remission, Spontaneous, Dermatology, Asymptomatic, Skin Diseases, Pathology and Forensic Medicine, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Langerhans cell histiocytosis, Medicine, Humans, Skin Findings, business.industry, Infant, Newborn, Papule, General Medicine, medicine.disease, Multisystem disease, Histiocytosis, Langerhans-Cell, Solitary lesion, Female, medicine.symptom, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24ac395da5038e76f4154598b0af282c
https://pubmed.ncbi.nlm.nih.gov/32769549

المؤلفون: Livio Provenzi, Camilla Pisoni, Alberto Chiara, Barbara Scelsa, Federico Prefumo, Bruno Drera, Dario Pantaleo, Roberto Giorda, Maria Valentina Spartà, Elisa Fazzi, Simona Orcesi, Giacomo Biasucci, Anna Cavallini, Roberta Giacchero, Lidia Decembrino, Rossana Falcone, Renata Nacinovich, Renza Bonini, Barbara Gardella, Maria Luisa Magnani

المساهمون: Provenzi, L, Giorda, R, Biasucci, G, Bonini, R, Cavallini, A, Chiara, A, Decembrino, L, Drera, B, Falcone, R, Fazzi, E, Gardella, B, Giacchero, R, Magnani, M, Nacinovich, R, Pantaleo, D, Pisoni, C, Scelsa, B, Sparta, M, Prefumo, F, Orcesi, S

المصدر: Psychoneuroendocrinology

مصطلحات موضوعية: Pregnancy, Coronavirus disease 2019 (COVID-19), business.industry, Endocrine and Autonomic Systems, media_common.quotation_subject, Endocrinology, Diabetes and Metabolism, prenatal exposure, Disease, medicine.disease, Psychiatry and Mental health, Maternal sensitivity, Endocrinology, Prenatal stress, Medicine, Temperament, Epigenetics, FKBP5, protocol, business, Covid-19, Biological Psychiatry, Clinical psychology, media_common

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1340dd907a31de6b472e1c6a42b65f07
https://hdl.handle.net/10281/402497

المؤلفون: Bruno Drera, Carlo Poggiani

مصطلحات موضوعية: Male, medicine.medical_specialty, Megaureter, Prenatal diagnosis, Case Report, Vesicoureteral reflux, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Internal Medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Hydronephrosis, Ultrasonography, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Infant, Newborn, General Medicine, medicine.disease, Urinoma, Surgery, Amniocentesis, Complication, business, Urinary tract obstruction, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e5494bb28d6f02cbac24b1063c130a
https://europepmc.org/articles/PMC5845932/

المؤلفون: Elisa, Milanesi, Cristina, Loda, Bruno, Drera, Carlo, Poggiani

المصدر: Minerva pediatrica. 68(4)

مصطلحات موضوعية: Nephrocalcinosis, Hypothermia, Induced, Hypercalcemia, Infant, Newborn, Subcutaneous Fat, Humans, Female, Fat Necrosis, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e0ef0b64f7d91310bf3d3e3a93dab63
https://pubmed.ncbi.nlm.nih.gov/27277205

المؤلفون: Daniela Ferrari, Carlo Poggiani, Pietro Cavalli, Bruno Drera

المصدر: Clinical Case Reports

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, Asphyxiating thoracic dystrophy, Jeune syndrome, Oligohydramnios, Case Reports, urologic and male genital diseases, Ciliopathies, renal cyst, Nephronophthisis, medicine, business.industry, dwarphism, General Medicine, medicine.disease, Phenotype, Ciliopathy, Low birth weight, ciliopathy, Dysplasia, nephronophthisis, medicine.symptom, business, oligohydramnios

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb7c3269161540a75e26195ac3c9108
http://europepmc.org/articles/PMC4184654

المؤلفون: Piergiacomo Calzavara-Pinton, Marco Ritelli, Gianluca Tadini, Bruno Drera, Marina Venturini, Sergio Barlati, Marina Colombi, Nicoletta Zoppi

المصدر: Journal of Dermatological Science. 53:222-225

مصطلحات موضوعية: Type VII Collagen, dystrophic epidermolysis bullosa, splicing mutation, Dermatology, Bone matrix, Biology, Biochemistry, Molecular biology, Dystrophic epidermolysis bullosa, Type VII collagen, RNA splicing, Mutation (genetic algorithm), COL7A1 Gene, Missense mutation, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b28f99d1b843539eab79bfebb1f13b2
https://doi.org/10.1016/j.jdermsci.2008.09.005

المؤلفون: Giovanna Floriddia, Daniele Castiglia, Giovanna Zambruno, Cristina Pedicelli, Marina Colombi, Sergio Barlati, Nicoletta Zoppi, N. De Luca, Gianluca Tadini, Bruno Drera, Rita Gardella

المصدر: Clinical Genetics. 70:339-347

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Collagen Type VII, mutation detection, Adolescent, Genes, Recessive, medicine.disease_cause, Pathogenesis, DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA, Genetics, medicine, COL7A1, dermal–epidermal junction, dystrophic epidermolysis bullosa pruriginosa, Humans, Child, Gene, Genetics (clinical), Genes, Dominant, Skin, Dermoepidermal junction, Mutation, business.industry, Immunoglobulin E, Dermatology, Phenotype, Epidermolysis Bullosa Dystrophica, Italy, Itching, Female, medicine.symptom, Age of onset, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd00a9bbf6ce6f0242cc994309ed3e1
https://doi.org/10.1111/j.1399-0004.2006.00679.x