| 1 | Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis | 1ᵉʳ autor: Villarroel, CE, Zenteno, JC, Barragán-Arévalo, T, Leal-Anaya, P, et al. | 2024 | REPRODUCTIVE SCIENCES | WoS-id: 001177015000002
Scopus-id: 2-s2.0-85186950928
| 0 | 0 |
| 2 | First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations | Coautor: Villarroel, Camilo E., Roman Corona-Rivera, Jorge, Carlos Zenteno, Juan, Gildardo Lopez-Perez, Leopoldo, et al. | 2023 | Molecular Syndromology | WoS-id: 000900501700001
Scopus-id: 2-s2.0-85145289036
| 0 | 0 |
| 3 | Frequent copy number variants in a cohort of Mexican-Mestizo individuals | Coautor: Villarroel, Camilo, Sanchez, Silvia, Juarez, Ulises, Dominguez, Julieta, et al. | 2023 | MOLECULAR CYTOGENETICS | WoS-id: 000912415900001
Scopus-id: 2-s2.0-85146115748
| 4 | 5 |
| 4 | Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG | 2ᵒ autor: Villarroel, C. E., Gonzalez-Dominguez, C. A., Rodriguez-Morales, M., Manrique-Hernandez, S., et al. | 2021 | Molecular Genetics and Metabolism Reports | WoS-id: 000687300900017
Scopus-id: 2-s2.0-85109003379
| 3 | 3 |
| 5 | UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome | Coautor: Villarroel C.E., Garza-Mayén G., Ulloa-Avilés V., Navarrete-Meneses P., et al. | 2021 | EUROPEAN JOURNAL OF MEDICAL GENETICS | Scopus-id: 2-s2.0-85103317977
| 0 | 6 |
| 6 | Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome | Coautor: Villarroel, Camilo E., Chacon-Camacho, Oscar F., Barragan-Arevalo, Tania, Almanza-Monterrubio, Monica, et al. | 2020 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 000529913000011
Scopus-id: 2-s2.0-85079070554
| 7 | 9 |
| 7 | Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review | 2ᵒ autor: Villarroel, Camilo E., Yokoyama, Emiy, Diaz, Sinhue, DEL CASTILLO, VICTORIA, et al. | 2020 | MOLECULAR CYTOGENETICS | WoS-id: 000571115500001
Scopus-id: 2-s2.0-85091273525
| 3 | 3 |
| 8 | Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: Revealing the genetic basis of clinical manifestations | Coautor: Villarroel-Cortes, C., Salas-Labadia, C., Gomez-Carmona, S., Cruz-Alcivar, R., et al. | 2019 | ORPHANET JOURNAL OF RARE DISEASES | WoS-id: 000497424400002
Scopus-id: 2-s2.0-85075037719
| 17 | 19 |
| 9 | ROLE OF KLOTHO RS9536282 GENE POLYMORPHISM ON BMD IN MEXICAN CHILDREN AND ADOLESCENT WITH TURNER SYNDROME | Coautor: Villaroel, V. C., Altamirano-Bustamante, N. A. B., Torres-Maldonado, L. T. M., Banrrientos-Rios, R. B. R., et al. | 2018 | OSTEOPOROSIS INTERNATIONAL | WoS-id: 000440102404174
| 0 | 0 |
| 10 | Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing | Coautor: Villarroel, Camilo E., Matias-Perez, Diana, Garcia-Montano, Leopoldo A., Cruz-Aguilar, Marisa, et al. | 2018 | JOURNAL OF HUMAN GENETICS | WoS-id: 000448318700008
Scopus-id: 2-s2.0-85053417936
| 19 | 19 |
| 11 | In Search of Candidate Genes Genotype Phenotype Correlation: Role of Klotho Polymorphisms and Vitamin D Receptor in Bone Mineral Density in Mexican Children and Adolescents with Turner Syndrome | Coautor: Villarroel, Camilo, Leon, Adareli, Rios, Rehotbevely, Vazquez, Sara, et al. | 2018 | HORMONE RESEARCH IN PAEDIATRICS | WoS-id: 000453593700002
| 0 | 0 |
| 12 | Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa | Coautor: Villarroel C.E., Fischer-Zirnsak B., Escande-Beillard N., Ganesh J., et al. | 2015 | AMERICAN JOURNAL OF HUMAN GENETICS | WoS-id: 000361084700011
Scopus-id: 2-s2.0-84941024648
| 60 | 68 |
| 13 | Supervivencia prolongada en el síndrome de Casamassima-Morton-Nance. Reporte de caso y revisión de la literatura | 2ᵒ autor y autor de correspondencia: Villarroel-Cortés C., Huerta-Uribe N. | 2015 | ACTA PEDIATRICA DE MEXICO | Scopus-id: 2-s2.0-84930838448
| 0 | 1 |
| 14 | Mielomeningocele y espectro oculoauriculovertebral, coincidencia de entidades en un paciente | 1ᵉʳ autor: Villarroel-Cortés C., Mauricio Rojas-Maruri C. | 2014 | ACTA PEDIATRICA DE MEXICO | Scopus-id: 2-s2.0-84930798544
| 0 | 0 |
| 15 | Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome | Coautor: Villarroel C.E., Nakamura K., Kato M., Osaka H., et al. | 2013 | Neurology | WoS-id: 000330767700014
Scopus-id: 2-s2.0-84884572095
| 169 | 187 |
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