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Jaime Toral‐López

Observed names: J Toral-Lopez, J. Toral-Lopez, J. Toral-López, Jaime López, Jaime Toral López, Jaime Toral-Lopez, Jaime Toral-López, TORAL LOPEZ, JAIME
ORCID: 0000-0003-0324-7351
Observed ORCID: 0000-0003-0324-7351
OpenAlex ID: A5000864333
Complete monosomy mosaic of chromosome 21: Case report and review of literature
2012 · Jaime Toral-Lopez, Luz Maria Gonzalez-Huerta, et al. · Gene · 16
Familial Pycnodysostosis: Identification of a Novel Mutation in the CTSK Gene (Cathepsin K)
2011 · Jaime Toral-López, Luz Maria Gonzalez-Huerta, et al. · Journal of Investigative Medicine · 16
Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome
2008 · J. Toral-Lopez, L.M. González-Huerta, et al. · British Journal of Dermatology · 15
Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide‐binding oligomerization domain‐containing protein 2 gene with good response to infliximab
2018 · Jaime Toral‐López, Luz M. González‐Huerta, et al. · Pediatric Dermatology · 13
Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report
2020 · Jaime Toral-Lopez, Luz María González Huerta, et al. · World Journal of Clinical Cases · 12
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis
2015 · Etzalli P. Linares Chávez, Jaime Toral López, et al. · Molecular Syndromology · 10
A novel microdeletion involving the 13q31.3–q32.1 region in a patient with normal intelligence
2014 · Juan Manuel Valdes-Miranda, Jose Ramon Soto-Alvarez, et al. · European Journal of Medical Genetics · 10
Point mutation in the STS gene in a severely affected patient with X-linked recessive ichthyosis
2006 · LM Gonzalez-Huerta, OM Messina-Baas, et al. · Acta Dermato Venereologica · 10
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ADRB1andADBR2Gene Polymorphisms and the Ocular Hypotensive Response to Topical Betaxolol in Healthy Mexican Subjects
2014 · Olga Messina Baas, Guillermo Pacheco Cuellar, et al. · Current Eye Research · 9
A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype
2016 · Jaime Toral-López, Luz M. González-Huerta, et al. · Molecular Syndromology · 8
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis
2014 · L. Plaza-Benhumea, J.M. Valdes-Miranda, et al. · British Journal of Dermatology · 8
A CRYGC gene mutation associated with autosomal dominant pulverulent cataract
2013 · Luz Ma. González-Huerta, Olga Messina-Baas, et al. · Gene · 8
An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14)
2012 · Jaime Toral‐López, Beatriz Buentello‐Volante, et al. · American Journal of Medical Genetics Part A · 8
Association between leptin and leptin receptor gene polymorphisms and breast cancer risk in premenopausal and postmenopausal Mexican women
2017 · Luz Huerta, Carmen Cabrera, et al. · Cancer Research Frontiers · 7
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss
2015 · M. Martínez-Saucedo, M.R. Rivera-Vega, et al. · International Journal of Pediatric Otorhinolaryngology · 7
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia
2024 · Jaime Toral López, Sandra Gómez Martinez, et al. · Biology · 6
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Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract
2016 · Olga Messina-Baas, Manuel L. Gonzalez-Garay, et al. · Molecular Syndromology · 6
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X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene
2015 · Maria del Refugio Rivera Vega, Mauricio R. Murillo-Vilches, et al. · Journal of Dermatological Science · 5
A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism
2015 · Maria del Refugio Rivera-Vega, Luis A. Gómez-del Angel, et al. · Cytogenetic and Genome Research · 5
Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
2021 · Luz María González Huerta, Sorina Gómez González, et al. · Psychiatric Genetics · 3
A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family
2024 · Jaime Toral López, Cesar Candia Tenopala, et al. · Diseases · 2
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Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia
2023 · Jaime Toral López, Luz María González Huerta · Molecular Syndromology · 2
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X linked recessive ichthyosis: Current concepts
2015 · Jaime Toral-López · World Journal of Dermatology · 2
Relevancia de la secuenciación de nueva generación en el diagnóstico de cáncer de mama y dos mutaciones descritas por primera vez en población mexicana
2023 · Luz María González-Huerta, Alfonso Hernández-Vázquez, et al. · Salud Pública de México · 1
Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III
2015 · Tania Córdoba-Cabeza, Maricela Villeda, et al. · Journal of Pediatric Genetics · 1
Works count: 35
Citation count: 190
H-index: 9
I10-index: 8
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