Zobrazeno 1 - 10
of 14
pro vyhledávání: '"P M, Pavanello"'
Autor:
M. Pacetti, A. Andaloro, L.A. Nasto, F. Secci, M. Pavanello, A. Consales, A. Cama, G. Piatelli
Publikováno v:
Brain and Spine, Vol 2, Iss , Pp 101479- (2022)
Externí odkaz:
https://doaj.org/article/77213a637bea460aba4e213969657f16
Autor:
Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11995 (2022)
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was abl
Externí odkaz:
https://doaj.org/article/a584738b8a154bf3a5f440be4bc9ce1d
Autor:
Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mu
Externí odkaz:
https://doaj.org/article/b0cb6d4e3d1a46c39a87d324c172427c
Autor:
Gabriella S. P. Hsia, Camila M. Musso, Lucas Alvizi, Luciano A. Brito, Gerson S. Kobayashi, Rita C. M. Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli M. Zechi-Ceide, Debora Bertola, Maria Rita Passos-Bueno
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Repeats in coding and non-coding regions have increasingly been associated with many human genetic disorders, such as Richieri-Costa-Pereira syndrome (RCPS). RCPS, mostly characterized by midline cleft mandible, Robin sequence and limb defects, is an
Externí odkaz:
https://doaj.org/article/80bff2cc0c414e4aa2074f821e695a5d
Publikováno v:
Minerva chirurgica. 51(9)
Thymoma is the most common primary neoplasm of the tymus. The majority of thymomas are encapsulated masses and exhibit benign behavior. Less frequently they may be invasive, or rarely they may metastasize to distant sites. The usual clinical presenta
Publikováno v:
Minerva chirurgica. 51(3)
A case of cystic lymphangioma is reported, located on the mesentery of the jejunum in a fifty-seven year old patient. The lymphangioma is an extremely rare disease and it is often located in the neck and arm pit. An intra abdominal and mediastinal lo
Publikováno v:
Minerva chirurgica. 45(1-2)
Gastro-intestinal foreign bodies are a by no means rare event in surgery and in the USA mortality is about 1500 people per annum. The surgical treatment of foreign bodies in the alimentary tract is reported here. Certain cases of voluntary ingestion
Publikováno v:
Minerva chirurgica. 44(17)
A retrospective study was carried out in 41 over-70 year-olds who had been operated on for gastric cancer in 1984-86 at the General Surgery Division of Imola to see if age is an unfavourable prognostic factor in this situation. Age was not decisive i
Autor:
P M, Pavanello, M, Colombati, M, Pagliari, G, Bellucci, R, Lombardi, C, Cattuto, S, Sepioni, C, Zingaretti
Publikováno v:
Annali italiani di chirurgia. 52(5)
Publikováno v:
Pathologica. 71(1015)