Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Camilo E. Villarroel"'
Autor:
Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina, Sara Frias
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
Abstract Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent wh
Externí odkaz:
https://doaj.org/article/7eee9280a0c74043b0f443ab5f12114a
Autor:
Jorge Román Corona-Rivera, Juan Carlos Zenteno, Leopoldo Gildardo López-Pérez, Emiy Yokoyama-Rebollar, Camilo E. Villarroel, Tania Barragán-Arévalo, Luis Ángel Montes-Almanza, Luz Consuelo Zepeda-Romero, Guadalupe Elena Morales-Domínguez, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera
Publikováno v:
Molecular Syndromology. 14:143-151
Introduction: PACS1-related neurodevelopmental disorder (PACS1-related NDD) is caused by pathogenic variants in the PACS1 gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2018172286f286a15a4d0c3e5434d33
https://doi.org/10.1159/000526975
https://doi.org/10.1159/000526975
Autor:
Renée Barreda Fierro, Camilo E. Villarroel Cortés, Juan Carlos Zenteno, Patricia Herrera Mora
Publikováno v:
Neuromuscular Disorders. 30:986-990
Charcot Marie Tooth disease (CMT) is a progressive motor and sensory polyneuropathy, it is characterized by a very heterogeneous molecular basis and phenotype. MFN2 and GDAP1 participate in mitochondrial energy metabolism and the rare coinheritance o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3cd04a6d8c17d0eecf049610258af5f
https://doi.org/10.1016/j.nmd.2020.10.003
https://doi.org/10.1016/j.nmd.2020.10.003
Autor:
Samuel Gómez, Victoria del Castillo, Consuelo Salas, Bertha Molina, Emiy Yokoyama, Sinhué Diaz, Patricia Pérez-Vera, Camilo E. Villarroel, Sara Frías, Reneé Barreda
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be08269563c8cc1a76889b5e32ffbf21
http://europepmc.org/articles/PMC7487539
http://europepmc.org/articles/PMC7487539
Autor:
Luz María Sánchez Sánchez, Valentina Martinez Montoya, Roberto Sandoval Pacheco, Benjamin Torres Octavo, Diana M. Anaya Castro, Ofelia Padilla de la Torre, Carmen A. Arellano Valdez, Carmen Ávila Rejón, Pedro A. Aguilar Juárez, Martín Espino Pluma, Antonio González Santillanes Cruz, Ekaterina Kazakova, Rosa I. Martinez Segovia, Dorian Olmos Morfin, Pablo Radillo Díaz, Ishar Solís Sánchez, Monica Vázquez del Mercado-Espinosa, Camilo E. Villarroel Cortés, Jesús S. Velarde Félix
Publikováno v:
Revista de Neurología. 75:103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dffc1a0be1f747d3293f2cc7f14b3896
https://doi.org/10.33588/rn.7505.2022227
https://doi.org/10.33588/rn.7505.2022227
Autor:
Mónica Almanza-Monterrubio, Juan Carlos Zenteno, Tania Barragán-Arévalo, Camilo E Villarroel, Oscar F. Chacon-Camacho
Publikováno v:
European Journal of Medical Genetics. 63:103877
Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3c6d814df6c81e3a029179227f8957
https://doi.org/10.1016/j.ejmg.2020.103877
https://doi.org/10.1016/j.ejmg.2020.103877
Autor:
Iván Antonio García-Montalvo, Leopoldo A García-Montaño, Tania Barragán-Arévalo, Jessica Nava-Valdez, Cristina Villanueva-Mendoza, Marisa Cruz-Aguilar, Diana Matías-Pérez, Camilo E Villarroel, Clavel Guadarrama-Vallejo, Rocío Villafuerte-de la Cruz, Oscar F. Chacon-Camacho, Juan Carlos Zenteno
Publikováno v:
Journal of human genetics. 63(11)
Severe congenital eye malformations, particularly microphthalmia and anophthalmia, are one of the main causes of visual handicap worldwide. They can arise from multifactorial, chromosomal, or monogenic factors and can be associated with extensive cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a49c3a1320c1fbb1f907f84c9553acab
https://pubmed.ncbi.nlm.nih.gov/30181649
https://pubmed.ncbi.nlm.nih.gov/30181649
Autor:
Eniko K. Pivnick, Uwe Kornak, Asim F. Choudhri, Leila Pajunen, Camilo E. Villarroel, Paulina Bahena, Stephen P. Robertson, Abigail Loh, Graham D. Wright, Bert Callewaert, Stefan Mundlos, Sara L. Reichert, Irene Stolte-Dijkstra, Nathalie Escande-Beillard, David Meierhofer, Tomasz Zemojtel, Conny M. A. van Ravenswaaij-Arts, Roya Mostafavi, Peter N. Robinson, Mohammed Al Bughaili, Peter H. Byers, Bruno Reversade, Angela E. Lin, Amira Masri, Elisa Rahikkala, Ulrike Schwarze, Inderneel Sahai, Ulrike Krüger, Björn Fischer-Zirnsak, Jaya Ganesh, Jaron Liu, Sofie Symoens, Yu Xuan Tan, Lihadh Al-Gazali
Publikováno v:
The American Journal of Human Genetics
American journal of human genetics, 97(3), 483-492. Cell Press
American Journal of Human Genetics, 97(3), 483-492. CELL PRESS
American journal of human genetics, 97(3), 483-492. Cell Press
American Journal of Human Genetics, 97(3), 483-492. CELL PRESS
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f459c4b4dd1f937061c16ab5898272d
https://doi.org/10.1016/j.ajhg.2015.08.001
https://doi.org/10.1016/j.ajhg.2015.08.001
Autor:
Emiy Yokoyama, Sara Frías, Silvia Sánchez, Victoria del Castillo, Pilar Navarrete-Meneses, Camilo E. Villarroel, José Luis Castrillo, Silvia Avila, Leda Torres, Bertha Molina
Publikováno v:
American Journal of Medical Genetics Part A. 164:824-827
Recently, 2q24.2 deletion syndrome has emerged as a cause ofintellectual disability. Takatsuki et al. [2010] provided the firstreportwithadeletionin2q24.2q24.3,confirmedusingcomparativegenomic hybridization microarray (aCGH) analysis, who had alow-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0f9d06b64778f764abb20d652c10a12
https://doi.org/10.1002/ajmg.a.36347
https://doi.org/10.1002/ajmg.a.36347
Autor:
Carola Durán-McKinster, Camilo E. Villarroel, Irina Nazarenko, Robert J. Desnick, Vanessa Bosch-Canto, Victoria del-Castillo, David E. Cervantes-Barragán, Amy Yang, Alma Medrano-Hernández
Publikováno v:
Journal of medical genetics. 48(10)
Background The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling ‘forceps marks’. Recently, different homozygous T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef487202f54c2bad4a8a786fd5bd76c
https://pubmed.ncbi.nlm.nih.gov/21931173
https://pubmed.ncbi.nlm.nih.gov/21931173