First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations.

Autor: Corona-Rivera JR; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico., López-Pérez LG; Service of Genetics, Hospital of Pediatrics, UMAE, Western National Medical Center, Mexican Social Security Institute (IMSS), Guadalajara, Mexico., Yokoyama-Rebollar E; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Villarroel CE; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Barragán-Arévalo T; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Montes-Almanza LÁ; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zepeda-Romero LC; Service of Ophthalmology, Division of Pediatrics, 'Fray Antonio Alcalde' Civil Hospital of Guadalajara, Guadalajara, Mexico., Morales-Domínguez GE; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Peña-Padilla C; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Bobadilla-Morales L; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico., Corona-Rivera A; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico.

Publikováno v: Molecular syndromology [Mol Syndromol] 2023 Apr; Vol. 14 (2), pp. 143-151. Date of Electronic Publication: 2022 Dec 16.

Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Jalisco, Mexico).

Autor: Corona-Rivera JR; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Mexico., Olvera-Molina S; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Pérez-Molina JJ; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Aranda-Sánchez CI; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Bobadilla-Morales L; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Mexico., Corona-Rivera A; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.; 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Mexico., Peña-Padilla C; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Ruiz-Gómez A; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Morales-Domínguez GE; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.

Publikováno v: Congenital anomalies [Congenit Anom (Kyoto)] 2021 Mar; Vol. 61 (2), pp. 46-54. Date of Electronic Publication: 2020 Nov 05.