Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Hugo Hernán, Abarca Barriga"'
Autor:
Hugo Hernán Abarca-Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-7 (2024)
Abstract Background Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatom
Externí odkaz:
https://doaj.org/article/20d5351d41b24c7cb1a7866292cc8dfd
Publikováno v:
Revista de la Facultad de Medicina Humana, Vol 21, Iss 2, Pp 399-416 (2021)
Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopath
Externí odkaz:
https://doaj.org/article/7928e03455b04186a646e4032a3ead66
Autor:
Hugo Hernán Abarca Barriga, Felix Chavesta Velásquez, Claudia Barletta Carrillo, Abel Paucarmayta Tacuri, Margaret Bazán Hurtado, Tania Vásquez Loarte, Luis Ordoñez Rondón, Marco Ordoñez Linares, Evelina Andrea Rondón Abuhadba
Publikováno v:
Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 79, Iss 2 (2022)
Introducción. Las variantes en el número de copias son un tipo de cambios en el genoma provocan anomalías congénitas. Objetivo. Determinar las variantes en el número de copias y el grado de consanguinidad parental en neonatos con síndromes m
Externí odkaz:
https://doaj.org/article/76eb4748d2b54839a69ec336c9daa275
Publikováno v:
Acta Médica Peruana, Vol 37, Iss 1 (2020)
El tamizaje neonatal de los errores innatos del metabolismo se instauró hace más de 50 años en el mundo. En Latinoamérica, Uruguay, Costa Rica, Chile, Brasil y Colombia han implementado esta política de salud pública de manera sostenida. La tec
Externí odkaz:
https://doaj.org/article/0ffb247939c344fbbcbe3b1471b04478
Autor:
Hugo Hernán Abarca Barriga
Publikováno v:
Revista de Neuro-Psiquiatria. 84:33-50
La inteligencia humana es un rasgo poligénico (~1000 genes) con una influencia de cada gen aproximadamente ascendente al 0,1%. Es un atributo indispensable para el desarrollo personal, familiar, social y económico y tiene, además, una relación di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc9ddda4cfe3a6cfd14d1eef843d75fd
https://doi.org/10.20453/rnp.v84i1.3936
https://doi.org/10.20453/rnp.v84i1.3936
Publikováno v:
Revista de la Facultad de Medicina Humana, Vol 21, Iss 2, Pp 399-416 (2021)
Revista de la Facultad de Medicina Humana; Vol 21 No 2 (2021): Revista de la Facultad de Medicina Humana
Revista de la Facultad de Medicina Humana; Vol. 21 Núm. 2 (2021): Revista de la Facultad de Medicina Humana
Revistas Universidad Ricardo Palma
Universidad Ricardo Palma
instacron:URP
Revista de la Facultad de Medicina Humana; Vol 21 No 2 (2021): Revista de la Facultad de Medicina Humana
Revista de la Facultad de Medicina Humana; Vol. 21 Núm. 2 (2021): Revista de la Facultad de Medicina Humana
Revistas Universidad Ricardo Palma
Universidad Ricardo Palma
instacron:URP
Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1f18d747c701dc87f1e8c8bdf80b11
http://revistas.urp.edu.pe/index.php/RFMH/article/view/3626
http://revistas.urp.edu.pe/index.php/RFMH/article/view/3626
Autor:
Hugo Hernán, Abarca Barriga, Felix, Chavesta Velásquez, Claudia, Barletta Carrillo, Abel, Paucarmayta Tacuri, Margaret, Bazán Hurtado, Tania, Vásquez Loarte, Luis, Ordoñez Rondón, Marco, Ordoñez Linares, Evelina Andrea, Rondón Abuhadba
Publikováno v:
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina). 79(2)
Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. Purpose.To show copy number variants and regions of homozygosity in neonates with malformative syndrome or one congenital a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1f274c90686cf6aa50c8635d51df7d2e
https://pubmed.ncbi.nlm.nih.gov/35700460
https://pubmed.ncbi.nlm.nih.gov/35700460
Autor:
Flor Vásquez Sotomayor, Jorge La Serna Infantes, Tania Vasquez Loarte, Julio Antonio Poterico Rojas, Nathaly Caballero Bedón, Hugo Hernán Abarca Barriga, Milana Trubnykova, Felix Chavesta Velasquez, Bertha Elena Gallardo Jugo, Miguel A. Chavez Pastor
Publikováno v:
Acta Médica Peruana, Vol 37, Iss 2 (2020)
Objetivo: determinar las variantes en el número de copias y regiones de homocigosidad mediante el análisis cromosómico por micromatrices, en niños con diagnóstico de trastorno del neurodesarrollo: retraso del desarrollo psicomotor (RDPM), discap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18e66e943f66fc3fbeebd1ad4aa29b6
https://amp.cmp.org.pe/index.php/AMP/article/view/915
https://amp.cmp.org.pe/index.php/AMP/article/view/915
Autor:
Miguel A. Chavez Pastor, Jorge La Serna-Infantes, Felix Chavesta Velasquez, Milana Trubnykova, Flor Vásquez Sotomayor, Hugo Hernán Abarca Barriga
Publikováno v:
European Journal of Medical Genetics. 61:388-392
Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like intellectual disability, ichthyotic skin and short stature, caused by a homozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b132ccaabd4f9232361509ac97fbab8d
https://doi.org/10.1016/j.ejmg.2018.02.004
https://doi.org/10.1016/j.ejmg.2018.02.004
Autor:
Antonio R. Porras, Meow-Keong Thong, Katta M. Girisha, Miguel Chávez Pastor, Angélica Moresco, Premala Muthukumarasamy, María Gabriela Obregon, Ee Shien Tan, Gary T. K. Mok, Maximilian Muenke, Engela Honey, Cedrik Tekendo-Ngongang, Alec P. Boyle, E.V. Badoe, Laila Bouguenouch, Colleen A. Morris, Rupesh Mishra, Angeline Lai, Bertha Elena Gallardo Jugo, Adebowale Adeyemo, Deise Helena de Souza, Saumya Shekhar Jamuar, María Beatriz de Herreros, Karim Ouldim, Beth A. Kozel, Ashleigh D. Gill, Danilo Moretti-Ferreira, Mieke M. van Haelst, Ivan F M Lo, Vajira H. W. Dissanayake, Pranoot Tanpaiboon, Carlos Ferreira, Nirmala D. Sirisena, Leah Dowsett, Marshall L. Summar, Tommy Hu, Hugo Hernán Abarca Barriga, Dalia Farouk Hussen, Monisha S. Kisling, Milana Trubnykova, Ni-Chung Lee, Victoria Huckstadt, Marius George Linguraru, A. Micheil Innes, Eloise J. Prijoles, Vorasuk Shotelersuk, Khadija Belhassan, Brian H.Y. Chung, Jiin Ying Lim, Paul Kruszka, Anju Shukla, Ramses Badilla-Porras, Roger E. Stevenson, Siddaramappa J. Patil, Yonit A. Addissie, C. Sampath Paththinige, Ambroise Wonkam, Ihssane El Bouchikhi, Engy A. Ashaat, Mona O. El Ruby, Stephanie Lotz-Esquivel, André Mégarbané, Jorge La Serna, Cham Breana Wen-Min, HM Luk, Karen Fieggen, Alison Eaton, Neerja Gupta, Kelly L. Jones
Publikováno v:
American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dad
https://doi.org/10.1002/ajmg.a.38672
https://doi.org/10.1002/ajmg.a.38672