Pamela Garcia-Rivero

Mexico City, DIF 14080, Mexico

Last Updated: 09/26/2026

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Found 12 publications

Mycobacterial infections and recurrent osteomyelitis in a patient with an autosomal dominant mutation in IFN-gamma receptor 1 with overexpression of the receptor.

Mycobacterial infections and recurrent osteomyelitis in a patient with an autosomal dominant mutation in IFN-gamma receptor 1 with overexpression of the receptor.

Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Published: May 22, 2026

Development and validation of a predictive model for the lifetime risk of end-stage kidney disease in autosomal dominant polycystic kidney disease.

Development and validation of a predictive model for the lifetime risk of end-stage kidney disease in autosomal dominant polycystic kidney disease.

Journal: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion

Published: January 18, 2026

Performance of PREMM5, clinical criteria, and immunohistochemistry for MMR proteins in genetic risk assessment of Mexican patients with colorectal cancer.

Performance of PREMM5, clinical criteria, and immunohistochemistry for MMR proteins in genetic risk assessment of Mexican patients with colorectal cancer.

Journal: PloS one

Published: November 26, 2025

Breakpoint-resolved balanced t(2;12)(q35;q24.31) disrupting HNF1A in multigenerational MODY-3: Diagnostic utility of long-read genome sequencing and therapeutic impact.

Breakpoint-resolved balanced t(2;12)(q35;q24.31) disrupting HNF1A in multigenerational MODY-3: Diagnostic utility of long-read genome sequencing and therapeutic impact.

Journal: Metabolism open

Published: October 01, 2025

Spectrum of Pathogenic Variants in ATP7B Gene Causing Wilson Disease in Mexican Patients.

Spectrum of Pathogenic Variants in ATP7B Gene Causing Wilson Disease in Mexican Patients.

Journal: Archives of medical research

Published: September 30, 2025

Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.

Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.

Journal: Molecular genetics & genomic medicine

Published: June 14, 2024

Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7).

Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7).

Journal: Cureus

Published: March 22, 2024

Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.

Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.

Journal: Heliyon

Published: July 14, 2023

Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Journal: American journal of medical genetics. Part A

Published: June 19, 2023

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Journal: Clinical case reports

Published: June 10, 2023

Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.

Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.

Journal: JCEM case reports

Published: February 13, 2023

Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.

Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.

Journal: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion

Published: December 22, 2022

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Last Updated: 09/26/2026