Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Francisco Cammarata‐Scalisi"'
Autor:
Nolis Camacho-Camargo, Francisco Cammarata-Scalisi, Gloria Fátima Silva de Arenas, Carmine Lobo-Vielma, Yoselyn Martorelli-Suarez
Publikováno v:
Revista GICOS, Vol 9, Iss 1, Pp 133-142 (2024)
La displasia cleidocraneal (OMIM #119600) es una osteocondrodisplasia de herencia autosómica dominante debida a una mutación en heterocigosis en el gen RUNX2. Su prevalencia es 1 en 1.000.000 individuos. Puede detectarse en pacientes de estatura ba
Externí odkaz:
https://doaj.org/article/fa89da4217c24c08ba731d489441e2f9
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
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
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, 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, 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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Cutis laxa (CL) is a group of rare connective tissue disorders mainly characterized by wrinkled, redundant, inelastic, and sagging skin. Besides skin anomalies, in most CL forms multiple organs are involved, leading to severe mult
Externí odkaz:
https://doaj.org/article/83e40b432db64adcb59920b19fd46844
Autor:
Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez
Publikováno v:
Nefrología, Vol 37, Iss 6, Pp 663-665 (2017)
Externí odkaz:
https://doaj.org/article/82db048b52fa4e1e970fd47d27dc6bee
Autor:
Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez
Publikováno v:
Nefrología (English Edition), Vol 37, Iss 6, Pp 663-665 (2017)
Externí odkaz:
https://doaj.org/article/792bbda1dc9047829b7ea0335219b632
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