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Melania Abreu-González

Observed names: Abreu González, Melania, M. Abreu-González, M. Abreu‐González, Melania Abreu‐Gonzalez, Melania Abreu‐González
Institution: Centro Médico ABC
ORCID: 0000-0001-8591-0852
Observed ORCID: 0000-0001-8591-0852
OpenAlex ID: A5021707680
Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect
2014 · M. Vela‐Amieva, M. Abreu‐González, et al. · Clinical Genetics · 18
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome
2013 · M. Abreu-González, C. García-Delgado, et al. · Case Reports in Genetics · 11
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ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
2021 · Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, et al. · Frontiers in Genetics · 8
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Loss‐of‐Function Variant in PPP1R12A ‐Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal
2024 · Silvina Noemí Contreras‐Capetillo, Melania Abreu‐González, et al. · American Journal of Medical Genetics Part A · 7
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome
2021 · G. Garza-Mayén, V. Ulloa-Avilés, et al. · European Journal of Medical Genetics · 7
High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation
2024 · Monica Rodriguez‐Valero, Adrian Pastolero, et al. · Laryngoscope Investigative Otolaryngology · 3
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Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
2021 · Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, et al. · Frontiers in Genetics · 1
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Editorial: Inborn errors of carbohydrate metabolism volume II
2026 · José Elías García-Ortíz, Ida Vanessa Doederlein-Schwartz, et al. · Frontiers in Genetics
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Reassessing Benign ASXL1 Variants in Bohring–Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation
2026 · Liliana Fernández-Hernández, Sergio Enríquez-Flores, et al. · Genes
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Limitaciones en el diagnóstico de Niemann-Pick C en México: reporte de caso
2025 · Nayibe G. Martín-Burgos, Erick A. Escalante-Buendía, et al. · Boletín Médico del Hospital Infantil de México
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Editorial: Inborn errors of carbohydrate metabolism
2024 · Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, et al. · Frontiers in Genetics
From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3
2019 · Silvina Noemí Contreras-Capetillo, Melania Abreu-González · Journal of Rare Diseases Research & Treatment
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[Frequency of mucopolysaccharidoses diseases at the Hospital Infantil de México Federico Gómez].
2012 · Griselda Fuentes-Fuentes, Melania Abreu-González, et al. · PubMed
Works count: 14
Citation count: 55
H-index: 5
I10-index: 2
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