Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Michele CALLEA"'
Publikováno v:
Children, Vol 10, Iss 4, p 672 (2023)
Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and dis
Externí odkaz:
https://doaj.org/article/22cee599a4104935bdcddaf9e311c55a
Publikováno v:
Revista Peruana de Investigación en Salud, Vol 4, Iss 2, Pp 77-82 (2020)
La disqueratosis congénita corresponde la primera entidad genética descrita entre las telomeropatías, cuya forma clásica se caracteriza por presentar la tríada mucocutánea de pigmentación reticulada de encaje en piel, distrofia ungueal y leuco
Externí odkaz:
https://doaj.org/article/c9219c373156406bbe1caa77cfa9d740
Autor:
Michele Callea, Stefano Bignotti, Francesco Semeraro, Francisco Cammarata-Scalisi, Jinia El-Feghaly, Antonino Morabito, Vito Romano, Colin E. Willoughby
Publikováno v:
Children, Vol 9, Iss 9, p 1357 (2022)
The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized
Externí odkaz:
https://doaj.org/article/21aaeb1e098a49159d7df0fb669187fc
Autor:
Francisco Cammarata-Scalisi, Andrea Diociaiuti, Blanca de Guerrero, Colin Eric Willoughby, Michele Callea
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-3 (2020)
Abstract Background Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis is not yet completel
Externí odkaz:
https://doaj.org/article/35d6c9f226474c18a36665824a4cabf1
Autor:
Michele Callea
Publikováno v:
Children, Vol 9, Iss 5, p 592 (2022)
In this Special Issue of Children, we present two articles: one detailing the pathophysiology of atopic dermatitis (AD) and psoriasis and highlighting recommendationsin regard to the implications for management in children [...]
Externí odkaz:
https://doaj.org/article/3376839788384459bc10e1a45d2a1a59
Autor:
Tuğçe N. Pekdemir, Duygu Öztürk, Merve T. Çetindağ, Ebru Akleyn, Cansu O. Sarıyıldız, Michele Callea, İzzet Yavuz
Publikováno v:
Makara Journal of Health Research, Vol 22, Iss 2, Pp 63-68 (2018)
Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal recessive genetic disorder that occurs as a point mutation in the LMNA gene. It is a rare hereditary disorder, with approximately 100 cases reported in the medical literature. These pati
Externí odkaz:
https://doaj.org/article/0c5d039cef514f198c47e20223588647
Autor:
Francisco Cammarata-Scalisi, Antonio Cárdenas-Tadich, Marco Medina, Marcia Vega, Michele Callea
Publikováno v:
Revista Peruana de Investigación en Salud, Vol 4, Iss 3, Pp 132-133 (2020)
Externí odkaz:
https://doaj.org/article/8e3d2cf5720d413391956f27bb68f826
Autor:
María Angelina Lacruz-Rengel, Francisco Cammarata-Scalisi, Michele Callea, Florines Peña Avendaño, María Katheryne Peña Meneses, Gloria Da Silva, Justo Santiago, Santiago Peñaloza, Rafael Colina
Publikováno v:
Avances en Biomedicina, Vol 4, Iss 2, Pp 64-68 (2015)
Resumen (español) El síndrome de Williams-Beuren es un trastorno genético del desarrollo neurológico que incluye diferentes manifestaciones clínicas como retardo en el crecimiento e intelectual, cardiopatía congénita y rasgo facial distintivo
Externí odkaz:
https://doaj.org/article/81312b2e810c4610b9a7d2fd970439bf
Autor:
Francisco Cammarata-Scalisi, Michele Callea, Dianora Araque, María Angelina Lacruz-Rengel, Gloria Da Silva, Rodolfo Josué Ramírez, Fabiola López
Publikováno v:
Avances en Biomedicina, Vol 4, Iss 2, Pp 48-55 (2015)
Resumen (español) El síndrome de Wolf-Hirschhorn es una entidad genética producida por una deleción parcial que abarca la región distal del brazo corto del cromosoma 4 (4p16.3). Las manifestaciones más frecuentes son anomalías craneofaciales,
Externí odkaz:
https://doaj.org/article/19d1675538dc40008a901ddf9a3edbc6
Autor:
Michele Callea
Publikováno v:
Науковий вісник Ужгородського університету Серія Медицина. :95-100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::504428a03387b18d7b0009e6eecf763b
https://doi.org/10.32782/2415-8127.2023.67.17
https://doi.org/10.32782/2415-8127.2023.67.17