المؤلفون: Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Secondary peripheral chondrosarcoma, Malignant degeneration, Multiple osteochondromas, Rare skeletal disorders, Histological evaluation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/39630631ea254982b0c1ea691e0ae7c2

المؤلفون: Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Secondary peripheral chondrosarcoma (SPC), Solitary osteochondroma, Prognostic factors, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/45965d4def734b6fb07d33073a0c9492

المؤلفون: Maria Gnoli, Evelise Brizola, Morena Tremosini, Elena Pedrini, Margherita Maioli, Massimiliano Mosca, Alessandra Bassotti, Paola Castronovo, Cecilia Giunta, Luca Sangiorgi

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: COL1, collagen, collagen type I, overlap, clinical signs, musculoskeletal diseases, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.640558/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/dddc35148b444a1bb6d96359be781641

المؤلفون: Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

مصطلحات موضوعية: COL11A1, early myopia, hearing loss, novel mutation, stickler syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/8e460f872bfd43ac894500d53163cdf5

المؤلفون: Brigitte Mueller, Raoul Engelbert, Frances Baratta-Ziska, Bart Bartels, Nicole Blanc, Evelise Brizola, Paolo Fraschini, Claire Hill, Caroline Marr, Lisa Mills, Kathleen Montpetit, Verity Pacey, Miguel Rodriguez Molina, Marleen Schuuring, Chantal Verhille, Olga de Vries, Eric Hiu Kwong Yeung, Oliver Semler

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Osteogenesis imperfecta, Physiotherapy, Occupational therapy, Mobility, Rehabilitation, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0905-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/63a7f964372f474a8efedc7d4512fc2c

المؤلفون: Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Osteogenesis imperfecta, Quality of life, Sickness impact profile, Child, Adolescent, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-018-1077-z; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/c94e23e8e0834cea9915c79424aa892c

المؤلفون: Bruna Pinheiro, Marina B. Zambrano, Ana Paula Vanz, Evelise Brizola, Liliane Todeschini de Souza, Têmis Maria Félix

المصدر: Genetics and Molecular Biology, Iss 0 (2019)

مصطلحات موضوعية: Osteogenesis imperfecta, bone fracture, clinical features, pamidronate treatment, compliance, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005019401&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/e6a7455e1eff409a8e274231b935c422

المؤلفون: Antonio Mazzotti, Elena Artioli, Evelise Brizola, Alice Moroni, Morena Tremosini, Alessia Di Cecco, Salvatore Gallone, Cesare Faldini, Luca Sangiorgi, Maria Gnoli

المصدر: Genes ; Volume 15 ; Issue 11 ; Pages: 1490

مصطلحات موضوعية: multiple epiphyseal dysplasia, osteochondritis dissecans, COMP gene, pathogenic mutation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes15111490

الاتاحة: https://doi.org/10.3390/genes15111490

المؤلفون: Brigitte, Mueller, Raoul, Engelbert, Frances, Baratta-Ziska, Bart, Bartels, Nicole, Blanc, Evelise, Brizola, Paolo, Fraschini, Claire, Hill, Caroline, Marr, Lisa, Mills, Kathleen, Montpetit, Verity, Pacey, Miguel, Rodriguez Molina, Marleen, Schuuring, Chantal, Verhille, Olga, de Vries, Eric, Hiu Kwong Yeung, Oliver, Semler, Hogeschool van Amsterdam, Lectoraat Fysiotherapie - Transitie van Zorg bij Complexe Patiënten

المصدر: 13(158)

URL الوصول: https://pure.hva.nl/ws/files/5225099/engelbert_202018_202.pdf
https://research.hva.nl/en/publications/7f00d584-1cca-43ab-8996-69a865f2390b

الاتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=amsterdam_pure:oai:pure.hva.nl:publications/7f00d584-1cca-43ab-8996-69a865f2390b

المؤلفون: Maria Gnoli, Evelise Brizola, Morena Tremosini, Alessia Di Cecco, Luca Sangiorgi

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 11; Pages: 9416

مصطلحات موضوعية: osteogenesis imperfecta, adults, children, vitamin D, measurement, supplementation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms24119416

الاتاحة: https://doi.org/10.3390/ijms24119416

المؤلفون: Evelise Brizola, Marina Bauer Zambrano, Bruna de Souza Pinheiro, Ana Paula Vanz, Têmis Maria Félix

المصدر: Revista Paulista de Pediatria, Vol 35, Iss 2, Pp 171-177

مصطلحات موضوعية: osteogênese imperfeita, fratura óssea, características clínicas, diagnóstico clínico, diagnóstico diferencial, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822017000200171&lng=en&tlng=en; https://doaj.org/toc/1984-0462

URL الوصول: https://doaj.org/article/1b1517fb2f18456fb4d7978b7c845f19

المؤلفون: Luciana Labanca, Evelise Brizola, Deianira Luciani, Giulia Luppi, Luca Sangiorgi, Maria Grazia Benedetti

المصدر: Musculoskeletal Science and Practice. 64:102742

مصطلحات موضوعية: Physical Therapy, Sports Therapy and Rehabilitation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b378bb1f5a3de26a65f399736b5974d1
https://doi.org/10.1016/j.msksp.2023.102742

المؤلفون: Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi

المصدر: Orphanet journal of rare diseases. 17(1)

مصطلحات موضوعية: Male, Osteochondroma, Chondrosarcoma, Humans, Pharmacology (medical), Bone Neoplasms, Female, General Medicine, Prognosis, Genetics (clinical), Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94c97645344101844175047aece6cf0
https://pubmed.ncbi.nlm.nih.gov/35193636

المؤلفون: Paolo Nucci, Morena Tremosini, Sara Bargiacchi, Evelise Brizola, Luca Sangiorgi, Sabrina Giglio, Andrea La Barbera, Maria Gnoli

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Connective Tissue Disorder, medicine.medical_specialty, lcsh:QH426-470, Hearing loss, Hearing Loss, Sensorineural, RNA Splicing, Disease, 030105 genetics & heredity, Collagen Type XI, Clinical Reports, stickler syndrome, COL11A1, 03 medical and health sciences, Genetics, medicine, Humans, Stickler syndrome, Child, Connective Tissue Diseases, Molecular Biology, Genetics (clinical), Exome sequencing, hearing loss, Clinical Report, Genetic heterogeneity, business.industry, Arthritis, Retinal Detachment, medicine.disease, Dermatology, eye diseases, lcsh:Genetics, Phenotype, 030104 developmental biology, Mutation, Mutation (genetic algorithm), medicine.symptom, novel mutation, business, early myopia, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd767fc899a44312b35a759cdbad52a
https://doaj.org/article/8e460f872bfd43ac894500d53163cdf5

المؤلفون: Antonio Percesepe, Elena Pedrini, Evelise Brizola, Flavio Faletra, Agostino Gaudio, Maria Gnoli, Laura Campanacci, Maria Francesca Bedeschi, Annalucia Virdi, Luca Sangiorgi, Fiorella Gurrieri, Salvatore Gallone, Annamaria Milanesi, Morena Tremosini, Teresa Mattina, Iria Neri, Eric Lodewijk Staals

المساهمون: Gnoli M., Staals E.L., Campanacci L., Bedeschi M.F., Faletra F., Gallone S., Gaudio A., Mattina T., Gurrieri F., Percesepe A., Neri I., Virdi A., Tremosini M., Milanesi A., Brizola E., Pedrini E., Sangiorgi L.

المصدر: Calcified tissue international. 105(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Hyperostosis, Pathology, medicine.medical_specialty, Melorheostosis, Adolescent, Endocrinology, Diabetes and Metabolism, LEMD3 gene, Osteopoikilosis, Osteopoikilosis with or without melorheostosis, MAP Kinase Kinase 1, 030209 endocrinology & metabolism, Disease, Gene mutation, Biology, Pathogenesis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Germline mutation, hemic and lymphatic diseases, MAP2K1, medicine, Humans, Point Mutation, Orthopedics and Sports Medicine, Femur, Child, neoplasms, Germ-Line Mutation, Membrane Proteins, Middle Aged, medicine.disease, Melorheostosi, DNA-Binding Proteins, Osteopoikilosi, Italy, Female, 030101 anatomy & morphology

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293a3aa3eefa55be1412cc73d5516d63
https://pubmed.ncbi.nlm.nih.gov/31129707

المؤلفون: Verity Pacey, Brigitte Mueller, Eric Hiu Kwong Yeung, Frances Baratta-Ziska, Nicole Blanc, Chantal Verhille, Bart Bartels, Miguel Rodriguez Molina, Kathleen Montpetit, Claire Hill, Paolo Fraschini, Olga de Vries, Caroline Marr, Evelise Brizola, Oliver Semler, Marleen Schuuring, Lisa Mills, Raoul H.H. Engelbert

المساهمون: Hogeschool van Amsterdam, Lectoraat Fysiotherapie - Transitie van Zorg bij Complexe Patiënten, APH - Aging & Later Life, Rehabilitation medicine, AMS - Restoration & Development, ANS - Neuroinfection & -inflammation

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-14 (2018)
Orphanet Journal of Rare Diseases, 13(158)
Orphanet journal of rare diseases, 13:158. BioMed Central

مصطلحات موضوعية: Statement (logic), medicine.medical_treatment, CHILDHOOD, lcsh:Medicine, Research & Experimental Medicine, MUSCLE STRENGTH, 0302 clinical medicine, Surveys and Questionnaires, Pharmacology (medical), Position Statement, Child, Physiotherapy, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetics & Heredity, Mobility, Rehabilitation, General Medicine, Osteogenesis Imperfecta, IMPAIRMENT, SPONDYLODESIS, Medicine, Research & Experimental, Osteogenesis imperfecta, Child, Preschool, BONE, Life Sciences & Biomedicine, Occupational therapy, musculoskeletal diseases, medicine.medical_specialty, Adolescent, Pharmacology toxicology, education, 030209 endocrinology & metabolism, 03 medical and health sciences, Occupational Therapists, medicine, Humans, In patient, SCOLIOSIS, Science & Technology, business.industry, DISABILITY, lcsh:R, medicine.disease, PERCEIVED COMPETENCE, Physical Therapists, Physical therapy, Quality of Life, Personal experience, business, FOLLOW-UP, 030217 neurology & neurosurgery

وصف الملف: Electronic; image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55091e651f15df6a9a7540dc8cec6703
https://lirias.kuleuven.be/handle/20.500.12942/703532

المؤلفون: Evelise Brizola, Elza Daniel de Mello, Temis Maria Felix, Marina B. Zambrano, Ana Paula Vanz, Bruna Pinheiro

المصدر: Journal of the American College of Nutrition. 35:339-345

مصطلحات موضوعية: Male, medicine.medical_specialty, Nutritional Status, Medicine (miscellaneous), chemistry.chemical_element, Parathyroid hormone, 030209 endocrinology & metabolism, Calcium, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Vitamin D and neurology, Animals, Humans, Vitamin D, Child, Exercise, Bone mineral, Nutrition and Dietetics, business.industry, Osteogenesis Imperfecta, Vitamin D Deficiency, medicine.disease, Skeleton (computer programming), Diet, Cross-Sectional Studies, Milk, Endocrinology, chemistry, Parathyroid Hormone, Osteogenesis imperfecta, Child, Preschool, Dietary Supplements, Sunlight, Alkaline phosphatase, Female, Dairy Products, business, Body mass index

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::611c0d5282ac54909e4d8badc3da6133
https://doi.org/10.1080/07315724.2015.1057776

المؤلفون: Evelise Brizola, Jay R. Shapiro

المصدر: Calcified Tissue International. 97:101-103

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Adolescent, Bone Density Conservation Agents, Diphosphonates, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, MEDLINE, Osteogenesis Imperfecta, Bisphosphonate, medicine.disease, Endocrinology, Osteogenesis imperfecta, medicine, Humans, Orthopedics and Sports Medicine, Child, business, Bisphosphonate treatment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952d4b37ca7e528d77a1c381a0166dd9
https://doi.org/10.1007/s00223-015-0021-6

المؤلفون: Evelise Brizola (6674084), Marina Bauer Zambrano (6798860), Bruna de Souza Pinheiro (10394837), Ana Paula Vanz (6674081), Têmis Maria Félix (6674090)

مصطلحات موضوعية: Paediatrics, osteogenesis imperfecta, bone fracture, clinical features, clinical diagnosis, differential diagnosis

Relation: https://figshare.com/articles/dataset/CLINICAL_FEATURES_AND_PATTERN_OF_FRACTURES_AT_THE_TIME_OF_DIAGNOSIS_OF_OSTEOGENESIS_IMPERFECTA_IN_CHILDREN/14282468

الاتاحة: https://doi.org/10.6084/m9.figshare.14282468.v1

المؤلفون: Sangiorgi, Luca, Brizola, Evelise, Andrea Vianello, Anna Zambrano, Annalisa Scopinaro, Davide Gatti, Elena Pianigiani, Elio Castagnola, Giampiero I Baroncelli, Giovanna Mantovani, Giovanni Adami, Giuseppe Zampino, Laura Ruzzini, Laura Trespidi, Leonardo Panzeri, Lorena Casareto, Luigi A Nasto, Marco Carbone, Maria Beatrice Michelis, Maria Francesca Bedeschi, Maria Luisa Brandi, Mauro Celli, Michaela V Gonfiantini, Paolo Fraschini, Sandro Giannini, Silvio Boero, Stefania Sella, Vittorio Landoni

المساهمون: Luca, Sangiorgi, Evelise, Brizola, Vianello, Andrea, Zambrano, Anna, Scopinaro, Annalisa, Gatti, Davide, Pianigiani, Elena, Castagnola, Elio, I Baroncelli, Giampiero, Mantovani, Giovanna, Adami, Giovanni, Zampino, Giuseppe, Ruzzini, Laura, Trespidi, Laura, Panzeri, Leonardo, Casareto, Lorena, A Nasto, Luigi, Carbone, Marco, Beatrice Michelis, Maria, Francesca Bedeschi, Maria, Luisa Brandi, Maria, Celli, Mauro, V Gonfiantini, Michaela, Fraschini, Paolo, Giannini, Sandro, Boero, Silvio, Sella, Stefania, Landoni, Vittorio

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000584468300001; journal:IRISH JOURNAL OF MEDICAL SCIENCE; http://hdl.handle.net/11577/3355918; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85094911166

الاتاحة: http://hdl.handle.net/11577/3355918
https://doi.org/10.1007/s11845-020-02400-6