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Carmen Esmer

The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
2013 · Nora Urraca, Julie Cleary, et al. · Autism Research · 171
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DEB test for Fanconi anemia detection in patients with atypical phenotypes
2003 · Carmen Esmer, Silvia Sánchez, et al. · American Journal of Medical Genetics Part A · 128
Autistic Behavior Checklist (ABC) and Its Applications
2013 · Antonio Bravo Oro, María Elena Navarro-Calvillo, et al. · Springer eBooks · 54
Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México
2008 · María del Rosario Torres-Sepúlveda, Laura E Martínez-de Villarreal, et al. · Salud Pública de México · 20
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Liver fibrocystic disease and polydactyly: Proposal of a new syndrome
2001 · Carmen Esmer, Antonio Alvarez-Mendoza, et al. · American Journal of Medical Genetics · 13
Patient follow‐up is a major problem at genetics clinics
2003 · Carmen Esmer, Nora Urraca, et al. · American Journal of Medical Genetics Part A · 11
A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations
2015 · Antonio Bravo‐Oro, Iosif W. Lurie, et al. · American Journal of Medical Genetics Part A · 10
Autism Spectrum Disorders in Mexico
2013 · Antonio Bravo Oro, Carmen Esmer, et al. · Springer eBooks · 9
Artificial intelligence approaches to physiological parameter analysis in the monitoring and treatment of non-communicable diseases: A review
2023 · Julian Andres Ramirez-Bautista, Silvia L. Chaparro-Cárdenas, et al. · Biomedical Signal Processing and Control · 7
Severe consequences of carbamazepine exposure in utero: Figure 1
2011 · Antonio Bravo, Dolores Hernandez, et al. · BMJ Case Reports · 7
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A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.
2013 · Carmen Esmer, Rosario Becerra-Becerra, et al. · Europe PMC (PubMed Central) · 6
Prevalence and ancestral origin of the c.1987delC GAA gene mutation causing Pompe disease in Central Mexico
2017 · Adriana Grijalva-Pérez, Carmen Esmer, et al. · Meta Gene · 4
Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation
2016 · Carmen Esmer, Julio C. Salas-Alanis, et al. · Revista de investigaci�n Cl�nica · 4
Lipofuscinosis ceroidea neuronal. Variante infantil tardía de tipo 6 en dos hermanos heterocigotos compuestos con mutaciones nuevas
2021 · Antonio Bravo Oro, Víctor M Saavedra Alanís, et al. · Revista de Neurología · 3
Asociación entre la mutación homocigota c.318A>T en el exón 2 del gen EIF2B5 y la forma infantil de la leucoencefalopatía con sustancia blanca evanescente
2017 · Carmen Esmer, Gabriela Blanco Hernández, et al. · Boletín Médico del Hospital Infantil de México · 3
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Neuropatía sensitiva autonómica hereditaria tipo IIA: manifestaciones neurológicas y esqueléticas tempranas
2013 · C. Esmer, S. Díaz Zambrano, et al. · Anales de Pediatría · 3
Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study
2015 · SILVINA NOEMI CONTRERAS-CAPETILLO, HUGO LEONID GALLARDO BLANCO, et al. · Experimental and Therapeutic Medicine · 2
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Estandarización de la prueba de marcha de seis minutos en niños mexicanos sanos
2017 · Gabriela Blanco Hernández, Héctor Gerardo Hernández Rodríguez, et al. · 1
Presentación atípica de la enfermedad de Alexander infantil sin macrocefalia
2016 · Carmen Esmer, Miguel Villegas-Aguilera, et al. · Boletín Médico del Hospital Infantil de México · 1
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Molecular diagnostic challenges in a case with atypical teratoid tumor: Case report
2021 · Miguel Berger-Saunderson, Emilio J. Cordova, et al. · Current Problems in Cancer Case Reports
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Migraine with Dysautonomia Related to Mitochondrial Polymorphisms and Adrenergic Alpha Receptors
2021 · Ingrid Adriana Lopez-Chente, Antonio Bravo-Oro, et al. · International Journal of Medical Science and Health Research
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Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy
2018 · Carmen Esmer, Gabriela Blanco-Hernández, et al. · Boletín Médico Del Hospital Infantil de México (English Edition)
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Atypical presentation of infantile Alexander disease without macrocephaly
2016 · Carmen Esmer, Miguel Villegas-Aguilera, et al. · Boletín Médico Del Hospital Infantil de México (English Edition)
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Hallazgos clínicos y moleculares en una paciente con ataxia por deficiencia de vitamina E, homocigota para la mutación c.205-1G›C en el gen TTPA
2013 · Carmen Esmer, Abel Salazar Martínez, et al. · Boletín Médico del Hospital Infantil de México
Works count: 24
Citation count: 457
H-index: 8
I10-index: 7
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