Family inherited, prenatal and perinatal risk factors in Cuban children with primary autism

Autor: Daniel Quintana Hernández, Paulina Araceli Lantigua Cruz, Teddy Osmin Tamargo Barbeito, Yohandra Calixto Robert, Nancy Hernández Hernández

Publikováno v: Revista Habanera de Ciencias Médicas, Vol 21, Iss 4, Pp e4687-e4687 (2022)

Introduction: Primary autism is a heterogeneous neurobehavioral disorder of uncertain etiology in which both genes and the environment contribute to the pathogenesis of the disorder. Objective: To identify family inherited, prenatal and perinatal ri

Externí odkaz: https://doaj.org/article/10d8f6ac773e4ab5b3dc75bfdd4d7a6e

Caracterización clínica del síndrome de Usher. Provincia Holguín

Autor: Elayne Esther Santana Hernández, Paulina Araceli Lantigua Cruz

Publikováno v: Gaceta Médica Espirituana, Vol 18, Iss 3, Pp 22-29 (2016)

Fundamento: El síndrome de Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética; está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompa�

Externí odkaz: https://doaj.org/article/ae140737b3b54d3cba28f82934e5120d

Estrategia comunitaria de prevención primaria y diagnóstico precoz del síndrome Usher en la provincia Holguín

Autor: Elayne Esther Santana, Paulina Araceli Lantigua Cruz, Edilio Silva Velazco, Karelia Godoy Matos, Miquel Leyva Tamayo, Maritza Feria Rodríguez

Publikováno v: Correo Científico Médico, Vol 21, Iss 2 (2017)

Introducción: el síndrome Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética, está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompa�

Externí odkaz: https://doaj.org/article/1927a94a0ec949208a217668a4cbd730

The Global State of the Genetic Counseling Profession

Autor: Marianne Lodahl, Ramona Moldovan, Kunal Sanghavi, Jenna Scott, Deborah M. Lambert, Janice G. Edwards, Anna Middleton, Charlotta Ingvoldstad Malmgren, Ivan Macciocca, Eliza Courtney, Sook-Yee Yoon, Joanne Ngeow, Milena Paneque, Diana Scotcher, Lian-Hua Huang, Hyon J. Kim, Shelley Macaulay, Sahil Kejriwal, Juliana M. H. Lee, Paulina Araceli Lantigua-Cruz, Lamia Alsubaie, Emeline Davoine, Kristine Barlow-Stewart, Kate Gardiner, Christophe Cordier, Beppy Caanen, Åshild Lunde, Tina-Marié Wessels, Sonia Margarit, Yue Guan, Mary Ann R. Abacan, Kelly E. Ormond, Clara Serra Juhé, Alexandra J Obregón-Tito, Catherine Wicklund, Niby J. Elackatt, Shiri Shkedi-Rafid, Karen P. Powell

Publikováno v: Abacan, M, Alsubaie, L, Barlow-stewart, K, Caanen, B, Cordier, C, Courtney, E, Davoine, E, Edwards, J, Elackatt, N J, Gardiner, K, Guan, Y, Huang, L, Malmgren, C I, Kejriwal, S, Kim, H J, Lambert, D, Lantigua-cruz, P A, Lee, J M H, Lodahl, M, Lunde, Å, Macaulay, S, Macciocca, I, Margarit, S, Middleton, A, Moldovan, R, Ngeow, J, Obregon-tito, A J, Ormond, K E, Paneque, M, Powell, K, Sanghavi, K, Scotcher, D, Scott, J, Juhé, C S, Shkedi-rafid, S, Wessels, T, Yoon, S & Wicklund, C 2018, ' The Global State of the Genetic Counseling Profession ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-018-0252-x
Recercat. Dipósit de la Recerca de Catalunya
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The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbee5da386693076b342301e65f343ed
http://hdl.handle.net/10230/37123