| 1 | Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico | Coautor: Rivera-Vega, MR, Martínez-Montoya, V, Martínez-Herrera, A, Mancera-Páez, O, et al. | 2025 | Egyptian Journal of Medical Human Genetics | WoS-id: 001449044000004
Scopus-id: 2-s2.0-105000483586
| 0 | 0 |
| 2 | Relevance of next generation sequencing in the diagnosis of breast cancer and two mutations described for the first time in Mexican population | Coautor: Del Refugio Rivera-Vega, Maria, Maria Gonzalez-Huerta, Luz, Hernandez-Vazquez, Alfonso, Toral-Lopez, Jaime, et al. | 2023 | SALUD PUBLICA DE MEXICO | WoS-id: 001008183600018
| 0 | 0 |
| 3 | Relevancia de la secuenciación de nueva generación en el diagnóstico de cáncer de mama y dos mutaciones descritas por primera vez en población mexicana | Coautor: Rivera-Vega M.D.R., González-Huerta L.M., Hernández-Vázquez A., Toral-López J., et al. | 2023 | SALUD PUBLICA DE MEXICO | Scopus-id: 2-s2.0-85150874417
| 0 | 0 |
| 4 | Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event | Coautor: del Refugio Rivera-Vega, Maria, Fabiola Moran-Barroso, Veronica, Cervantes, Alicia, del Castillo-Moreno, Adriana, et al. | 2021 | Molecular Genetics & Genomic Medicine | WoS-id: 000674868400001
Scopus-id: 2-s2.0-85110692137
| 3 | 4 |
| 5 | Partial trisomy 15q21.2-q26.3 and partial deletion Xp22.33-p11.4 3p in a female patient with amenorrhea and normal intelligence | 1ᵉʳ autor: Rivera-Vega, M., Gonzalez-Huerta, L., Valdes-Miranda, J., Perez-Cabrera, A., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312604170
| 0 | 0 |
| 6 | Trisomy 4q22.3-q35.2 in a patient with additional material in 16q24 due to a de novo chromosomal rearrangement | 2ᵒ autor: Rivera-Vega, M., Gonzalez-Huerta, L., Valdes-Miranda, J., Perez-Cabrera, A., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312604171
| 0 | 0 |
| 7 | Identification of POUBF4 gene deletion in two Mexican families with hearing impairment through MLPA | 2ᵒ autor: Rivera-Vega, M., Martinez-Saucedo, M., Gonzalez-Huerta, L., Urueta-Cuellar, H., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312607067
| 0 | 0 |
| 8 | Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss (vol 79, pg 2295, 2015) | 2ᵒ autor: del Refugio Rivera-Vega, Maria, Martinez-Saucedo, Mirna, Maria Gonzalez-Huerta, Luz, Urueta-Cuellar, Hector, et al. | 2016 | INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | WoS-id: 000372941700019
Scopus-id: 2-s2.0-84960125304
| 0 | 0 |
| 9 | Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis | Coautor: Del Refugio Rivera Vega M., Linares Chávez E.P., Toral López J., Valdés Miranda J.M., et al. | 2015 | Molecular Syndromology | WoS-id: 000219136600004
Scopus-id: 2-s2.0-84958156627
| 2 | 4 |
| 10 | A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism | 1ᵉʳ autor: RiveraVega, MD, Gómez-Del Angel L.A., Valdes-Miranda J.M., Pérez-Cabrera A., et al. | 2015 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000356612500001
Scopus-id: 2-s2.0-84931957458
| 4 | 4 |
| 11 | Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment | 2ᵒ autor: Rivera-Vega, MD, Loeza-Becerra, F, Martinez-Saucedo, M, Gonzalez-Huerta, LM, et al. | 2014 | INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | WoS-id: 000338608100017
Scopus-id: 2-s2.0-84902077862
| 8 | 8 |
| 12 | Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma | 2ᵒ autor: Rivera-Vega, MR, Lopez-Valdez, J, Gonzalez-Huerta, LM, Cazarin, J, et al. | 2013 | PEDIATRIC DERMATOLOGY | WoS-id: 000318360200024
Scopus-id: 2-s2.0-84876901332
| 8 | 9 |
| 13 | Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene | Coautor: Rivera-Vega, M, Gonzalez-Huerta, L, Mendiola-Jimenez, J, Del Moral-Stevenel, M, et al. | 2009 | INTERNATIONAL JOURNAL OF DERMATOLOGY | WoS-id: 000262641500009
Scopus-id: 2-s2.0-59149090751
| 1 | 1 |
| 14 | Satoyoshi Syndrome With Unusual Skeletal Abnormalities and Parental Consanguinity | 2ᵒ autor: Rivera-Vega M.R., Venegas-Vega C.A., Cuevas-Covarrubias S., Orozco J., et al. | 2009 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000271587600015
Scopus-id: 2-s2.0-70449346630
| 7 | 9 |
| 15 | A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity | Coautor: Rivera-Vega, M, Gonzalez-Huerta, L, Ramirez-Sanchez, V, Messina-Baas, O, et al. | 2008 | BRITISH JOURNAL OF HAEMATOLOGY | WoS-id: 000260333100019
Scopus-id: 2-s2.0-54849431403
| 7 | 8 |
| 16 | Molecular analysis of the CYP1B1 gene: Identification of novel truncating mutations in patients with primary congenital glaucoma | Coautor: Rivera-Vega M.R., Messina-Baas O.M., González-Huerta L.M., Chima-Galán C., et al. | 2007 | OPHTHALMIC RES | WoS-id: 000243063900003
Scopus-id: 2-s2.0-33846242906
| 11 | 14 |
| 17 | Point mutation in the STS gene in a severely affected patient with x-linked recessive ichthyosis [12] | Coautor: Rivera-Vega M.R., Gonzalez-Huerta L.M., Messina-Baas O.M., Toral-Lopez J., et al. | 2006 | ACTA DERM-VENEREOL | WoS-id: 000235217800023
Scopus-id: 2-s2.0-33744769067
| 6 | 8 |
| 18 | Molecular analysis of the NDP gene in two families with Norrie disease | 1ᵉʳ autor: Rivera-Vega M.R., Chiñas-Lopez S., Jimenez Vaca A.L., Arenas-Sordo M.L., et al. | 2005 | ACTA OPHTHALMOL SCAN | WoS-id: 000227969600013
Scopus-id: 2-s2.0-17644415353
| 7 | 9 |
| 19 | Molecular analysis of isolated cases with primary congenital glaucoma: Preliminary study [Análisis molecular de casos aislados con glaucoma congénito primario: Estudio preliminar] | Coautor: Rivera-Vega M.R., Chima-Galán M.C., González-Huerta L.M., Villanueva C., et al. | 2005 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-35148818808
| 0 | 0 |
| 20 | A novel association in a family with oculo-auriculo-vertebral spectrum and X-linked ichthyosis [3] | 1ᵉʳ autor: Rivera-Vega M.R., Dueñas E., Jimenez-Vaca A.L., Valdes-Flores M., et al. | 2003 | PEDIATRIC DERMATOLOGY | Scopus-id: 2-s2.0-0037361367
| 0 | 3 |
| 21 | Analysis of CYP1B1 gene in a family with primary congenital glaucoma: Preliminary report [Análisis del gen CYP1B1 en una familia con glaucoma congénito primario: Estudio preliminar] | Coautor: Rivera-Vega M.R., Chima-Galán M.C., González-Huerta L.M., Hara R.M., et al. | 2003 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-34748825536
| 0 | 0 |
| 22 | Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier | Coautor: Rivera-Vega M.D.R., Cuevas-Covarrubias S.A., Jiménez-Vaca A.L., González-Huerta L.M., et al. | 2002 | JOURNAL OF INVESTIGATIVE DERMATOLOGY | WoS-id: 000179072800030
Scopus-id: 2-s2.0-0036431398
| 9 | 15 |
| 23 | Maternal transmission of the 3 bp deletion within exon 7 of the STS gene in steroid sulfatase deficiency [5] | Coautor: Rivera-Vega M.R., Valdes-Flores M., Jimenez Vaca A.L., Kofman-Alfaro S.H., et al. | 2001 | JOURNAL OF INVESTIGATIVE DERMATOLOGY | WoS-id: 000171847500031
Scopus-id: 2-s2.0-0034778477
| 3 | 3 |
| 24 | Unusual clinical presentation in two cases of multiple sulfatase deficiency | Coautor: Rivera-Vega M.R., Blanco-Aguirre M.E., Kofman-Alfaro S.H., Medina C., et al. | 2001 | PEDIATRIC DERMATOLOGY | WoS-id: 000172198200005
Scopus-id: 2-s2.0-0035171732
| 19 | 21 |
| 25 | Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population | Coautor: Rivera-Vega M.D.R., Jimenez Vaca A.L., Valdes-Flores M., González-Huerta L.M., et al. | 2001 | MOLECULAR MEDICINE | Scopus-id: 2-s2.0-0035717589
| 0 | 29 |
| 26 | Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico [2] | Coautor: Rivera-Vega M.R., Cuevas-Covarrubias S.A., Diaz-Zagoya J.C., Beirana A., et al. | 1999 | INTERNATIONAL JOURNAL OF DERMATOLOGY | WoS-id: 000081531200017
Scopus-id: 2-s2.0-0032800190
| 7 | 12 |
| 27 | Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome [5] | 1ᵉʳ autor: Rivera-Vega M.R., Juarez N.L., Cuevas-Covarrubias S.A., Kofman-Alfaro S.H. | 1996 | CLINICAL GENETICS | WoS-id: A1996VZ78100027
Scopus-id: 2-s2.0-0030474652
| 12 | 16 |
| 28 | Inguinal hernia in recessive x-linked Ichthyosis | Coautor: Rivera-Vega M.D.R., Cuevas-Covarrubias S.A., Kofman-Alfaro S.H., Palencia A.B., et al. | 1994 | JOURNAL OF DERMATOLOGY | Scopus-id: 2-s2.0-0028726601
| 0 | 1 |
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