المؤلفون: Gaia Roversi, Elisa Adele Colombo, Ivana Magnani, Cristina Gervasini, Giuseppe Maggiore, Mauro Paradisi, Lidia Larizza

المصدر: Genetics and Molecular Biology, Vol 44, Iss 3 (2021)

مصطلحات موضوعية: POIKTMP, FAM111B pathogenic variants, chromosomal instability, cancer predisposition, pancreatic carcinoma, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000400101&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/f355c2d615214ae2a034fac99a1ecd9f

المؤلفون: Liliana Guerra, Fabio Bergamo, Maria Rosaria D'Apice, Francesco Angelucci, Stefano di Girolamo, Letizia Camerota, Rosanna Monetta, Giorgio Annessi, Daniele Castiglia, Giuseppe Novelli, Mauro Paradisi, Francesco Brancati

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 12, Pp 1192-1194 (2019)

مصطلحات موضوعية: connexin 26, gjb2, palmoplantar keratoderma, mucocutaneous, deafness, syndrome, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3291; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

URL الوصول: https://doaj.org/article/5d19b1bd99194a1c91b73384cc4ca428

المؤلفون: Sabrina Caporali, Biagio Didona, Mauro Paradisi, Alessandro Mauriello, Elena Campione, Mattia Falconi, Federico Iacovelli, Marilena Minieri, Massimo Pieri, Sergio Bernardini, Alessandro Terrinoni

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 13, p 6901 (2021)

مصطلحات موضوعية: EPPK, NEPPK, keratins, genodermatosis, mosaic, keratin structure, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/13/6901; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/3362e80f82a14702a4b2d51456a033ef

المؤلفون: Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino

المصدر: PLoS ONE, Vol 13, Iss 4, p e0195792 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e5e15db75b7049cbbcdcd92bfb17bf13

المؤلفون: Alessandro Mauriello, Biagio Didona, Federico Iacovelli, Elena Campione, Sabrina Caporali, Massimo Pieri, Marilena Minieri, Alessandro Terrinoni, Mattia Falconi, Sergio Bernardini, Mauro Paradisi

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 6901, p 6901 (2021)
Volume 22
Issue 13

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Skin Neoplasms, Protein Conformation, Biopsy, DNA Mutational Analysis, Fluorescent Antibody Technique, Keratin 16, medicine.disease_cause, 030207 dermatology & venereal diseases, 0302 clinical medicine, Keratin, Biology (General), KIF, Spectroscopy, Sequence Deletion, chemistry.chemical_classification, Mutation, integumentary system, Settore BIO/12, General Medicine, Immunohistochemistry, Computer Science Applications, Chemistry, medicine.anatomical_structure, keratins, Keratinocyte, genodermatosis, QH301-705.5, Hyperkeratosis, Biology, Epidermolytic hyperkeratosis, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Structure-Activity Relationship, Germline mutation, NEPPK, medicine, Humans, Protein Interaction Domains and Motifs, Amino Acid Sequence, Physical and Theoretical Chemistry, keratin structure, QD1-999, Molecular Biology, Nevus, EPPK, Base Sequence, Organic Chemistry, Keratin-10, medicine.disease, Keratin 1, Molecular biology, 030104 developmental biology, chemistry, mosaic, Protein Multimerization, Keratin-1

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d5b39882e495101d3a37f2c49c01e9
https://pubmed.ncbi.nlm.nih.gov/34199056

المؤلفون: Giuseppe Novelli, Fabio Bergamo, Maria Rosaria D'Apice, Mauro Paradisi, Daniele Castiglia, Francesco Angelucci, Rosanna Monetta, Giorgio Annessi, Liliana Guerra, Letizia Camerota, Francesco Brancati, Stefano Di Girolamo

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 12, Pp 1192-1194 (2019)

مصطلحات موضوعية: medicine.medical_specialty, Hardware_MEMORYSTRUCTURES, mucocutaneous, business.industry, Mucocutaneous zone, Dermatology, General Medicine, connexin 26, palmoplantar keratoderma, lcsh:RL1-803, medicine.disease, syndrome, Gjb2 gene, Palmoplantar keratoderma, Settore MED/03, deafness, lcsh:Dermatology, Medicine, business, Keratoderma, gjb2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71c6df32354c6333b02dac6e3d639cd8
https://doaj.org/article/5d19b1bd99194a1c91b73384cc4ca428

المؤلفون: Cristina Gervasini, Ivana Magnani, Lidia Larizza, Mauro Paradisi, Gaia Roversi, Elisa Colombo, Giuseppe Maggiore

المساهمون: Roversi, G, Colombo, E, Magnani, I, Gervasini, C, Maggiore, G, Paradisi, M, Larizza, L

المصدر: Genetics and Molecular Biology
Genetics and Molecular Biology v.44 n.3 2021
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 44, Iss 3 (2021)
Genetics and Molecular Biology, Volume: 44, Issue: 3, Article number: e20200332, Published: 06 AUG 2021

مصطلحات موضوعية: Pathology, medicine.medical_specialty, chromosomal instability, pancreatic carcinoma, cancer predisposition, Poikiloderma, Biology, QH426-470, medicine.disease, FAM111B pathogenic variants, Fibrosis, Chromosome instability, Pancreatic cancer, Pulmonary fibrosis, Human and Medical Genetics, POIKTMP, medicine, Genetics, Expressivity (genetics), FAM111B pathogenic variant, Differential diagnosis, medicine.symptom, Myopathy, Molecular Biology

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd8dd9627e6862afb8b9eebc3a9af1dc
https://pubmed.ncbi.nlm.nih.gov/34358284

المؤلفون: May El Hachem, Cristina Rota, Andrea Diociaiuti, Mauro Paradisi, Cristina Russo, Luana Coltella, Diana Menis, Simona Giancristoforo

المصدر: Giornale Italiano di Dermatologia e Venereologia. 154

مصطلحات موضوعية: business.industry, Virus Activation, Medicine, Dermatology, business, medicine.disease, Acute generalized exanthematous pustulosis, Virology, Epstein–Barr virus infection

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::388d77dbc14a9bec37a73b1dc9a6325a
https://doi.org/10.23736/s0392-0488.17.05613-9

المؤلفون: Francesco Ricci, Damiano Abeni, Mauro Paradisi, Giorgio Annessi, Andrea Paradisi

المصدر: European journal of dermatology : EJD. 27(1)

مصطلحات موضوعية: medicine.medical_specialty, Skin Neoplasms, Dermatology, Neoplasms, Multiple Primary, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Nevus, Epithelioid and Spindle Cell, medicine, Humans, Buttocks, skin and connective tissue diseases, Child, Scalp, integumentary system, business.industry, Torso, Extremities, Neoplasms, Second Primary, medicine.disease, Spitz nevus, medicine.anatomical_structure, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04cdea2b662e4c6a546b8df5be9ce1fd
https://pubmed.ncbi.nlm.nih.gov/27758761

المؤلفون: Y. Zhang, G Ferranti, B P Wordsworth, Marco Castori, Mauro Paradisi

مصطلحات موضوعية: Adult, Male, Melorheostosis, Molecular Sequence Data, Biology, medicine.disease_cause, Germline, Bone and Bones, Variable Expression, Buschke–Ollendorff syndrome, Genetics, medicine, Humans, Family history, Child, Connective Tissue Diseases, Genetics (clinical), Germ-Line Mutation, Osteopoikilosis, Skin, Mutation, Base Sequence, Membrane Proteins, Nuclear Proteins, Sequence Analysis, DNA, Syndrome, medicine.disease, Osteochondrodysplasia, DNA-Binding Proteins, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a0a79bcd59ecaa8a34ef0517b72af59
https://doi.org/10.1111/j.1399-0004.2009.01177.x