Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Cristóbal, Passalacqua"'
Autor:
Cristóbal Passalacqua, Matías García, Elisa Sepúlveda, Diego Toledo, Matías Valencia, Marcelo Arancibia
Publikováno v:
Medwave, Vol 19, Iss 04, Pp e7621-e7621 (2019)
Resumen MOMO es un acrónimo para los términos macrosomía, obesidad, macrocefalia y anomalías oculares. El síndrome fue descrito por primera vez en 1993, con un total de nueve pacientes publicados a la fecha. Todos los casos reportaron discapaci
Externí odkaz:
https://doaj.org/article/126adbbac4e1449fb2e86402a2632abc
Autor:
Diego Toledo, Marcelo Arancibia, Matías García, Elisa Sepúlveda, Cristóbal Passalacqua, Matías Valencia
Publikováno v:
Medwave, Vol 19, Iss 04, Pp e7621-e7621 (2019)
MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f07afb4b31426bca77aad1f5f1283f2
https://doi.org/10.5867/medwave.2019.04.7621
https://doi.org/10.5867/medwave.2019.04.7621
Autor:
Rosa A, Pardo Vargas, Mariana, Aracena, Teresa, Aravena, Carolina, Cares, Fanny, Cortés, Víctor, Faundes, Cecilia, Mellado, Cristóbal, Passalacqua, Patricia, Sanz, Silvia, Castillo Taucher
Publikováno v:
Revista chilena de pediatria. 87(5)
The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5532027837e46539ae5ad3d696311597
https://pubmed.ncbi.nlm.nih.gov/27234469
https://pubmed.ncbi.nlm.nih.gov/27234469
Publikováno v:
American Journal of Medical Genetics Part A. 155:2552-2555
The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f45d522e91ee18b689911a46daf43371
https://doi.org/10.1002/ajmg.a.34204
https://doi.org/10.1002/ajmg.a.34204
Publikováno v:
Revista médica de Chile. 138:1530-1534
Background About 30% of cases of colon cancer (CC) have a family history of CC, and only 5% are hereditary forms. Hereditary forms have an increased risk of CC and other tumors. Aim To report the molecular and genetic study in two families with hered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa8ec8bef389be2942611c9de65b2f20
https://doi.org/10.4067/s0034-98872010001300009
https://doi.org/10.4067/s0034-98872010001300009
Autor:
Ligia Aranibar, Cristóbal Passalacqua, Patricia Sanz, Francisca Rojas, Camila Melo, Luz Maria Martin, Silvia Castillo Taucher
Publikováno v:
American Journal of Medical Genetics Part A. 155:2015-2017
Marshall-Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation, failure to thrive, and dysmorphic facial features. We report a new patient with clinical featur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de4842b23ae0f4e0162963341d3c24d1
https://doi.org/10.1002/ajmg.a.34076
https://doi.org/10.1002/ajmg.a.34076
Autor:
Nejat Akar, Çiğdem Arslan, Ece Akar, Cristóbal Passalacqua, Ayşenur Öztürk, Silvia Castillo Taucher
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 12, No 1 (2011)
Familial Mediterranean fever (FMF) is an autosomal recessive disease which is characterized by recurrent fever and inflammation of serous membranes. A Chilean FMF patient was investigated for MEFV mutations. After DNA extraction, exons 3, 5, 10 and 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d47282be321c8850674561d99be9cf
https://www.ajol.info/index.php/ejhg/article/view/69027
https://www.ajol.info/index.php/ejhg/article/view/69027
Publikováno v:
Revista medica de Chile. 138(12)
About 30% of cases of colon cancer (CC) have a family history of CC, and only 5% are hereditary forms. Hereditary forms have an increased risk of CC and other tumors.To report the molecular and genetic study in two families with hereditary CC.Molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d1e097f63d326f7e63455be7b597cc9a
https://pubmed.ncbi.nlm.nih.gov/21526302
https://pubmed.ncbi.nlm.nih.gov/21526302
Publikováno v:
Revista medica de Chile. 138(6)
Essential hypertension (HTA) is a multifactorial disease and in Chile, its prevalence is 33.7%. There is a genetic predisposition to develop hypertension, whose magnitude is approximately 30 to 50%. At present, some factors are known to increase the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::397c0981f43a305b01ab0d987daad44e
https://pubmed.ncbi.nlm.nih.gov/20919489
https://pubmed.ncbi.nlm.nih.gov/20919489
Publikováno v:
Revista médica de Chile. 138
Essential hypertension (HTA) is a multifactorial disease and in Chile, its prevalence is 33.7%. There is a genetic predisposition to develop hypertension, whose magnitude is approximately 30 to 50%. At present, some factors are known to increase the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e6c7bdf23fb2513ae7ad3f71129994c
https://doi.org/10.4067/s0034-98872010000600016
https://doi.org/10.4067/s0034-98872010000600016