1 | Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype | Coautor: Cuevas-Covarrubias, Sergio A., Plaza-Benhumea, Lautaro, Martin-de Saro, Monica D., Sanchez-Acosta, Cesar G., et al. | 2022 | Molecular Syndromology | WoS-id: 000773291000001 Scopus-id: 2-s2.0-85126998314
| 2 | 2 |
2 | A novel case of a girl with partial trisomy 12q24.21q24.33 and review of the literature | Coautor: Cuevas-Covarrubias, Sergio, Plaza-Benhumea, Lautaro, Martin-DeSaro, Monica, Messina-Baas, Olga | 2022 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000779367702165
| 0 | 0 |
3 | Expanding phenotype in a patient with partial trisomy 13q/monosomy 3p resulting from a paternal reciprocal 3p;13q translocation | Coautor: Cuevas-Covarrubias, Sergio, Martin-DeSaro, Monica, Plaza-Benhumea, Lautaro, Gonzalez-Huerta, Luz, et al. | 2022 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000779367702166
| 0 | 0 |
4 | Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy | Coautor: Cuevas-Covarrubiass, Sergio Alberto, Martin-de Saro, Monica, Compean, Zyndia, Aguilar, Karina, et al. | 2021 | Molecular Syndromology | WoS-id: 000675445100001 Scopus-id: 2-s2.0-85111565233
| 1 | 2 |
5 | Expression of metalloproteinases MMP-2 and MMP-9 is associated to the presence of androgen receptor in epithelial ovarian tumors | Coautor: Cuevas-Covarrubias, Sergio, Morales-Vasquez, Flavia, Castillo-Sanchez, Rocio, Gomora, Maria J., et al. | 2020 | JOURNAL OF OVARIAN RESEARCH | WoS-id: 000556332100001 Scopus-id: 2-s2.0-85088811305
| 9 | 11 |
6 | 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 | Coautor: Cuevas-Covarrubias, Sergio A., Toral-Lopez, Jaime, Huerta, Luz Maria Gonzalez, Messina-Baas, Olga | 2020 | World Journal Of Clinical Cases | WoS-id: 000595692200019 Scopus-id: 2-s2.0-85105883364
| 7 | 7 |
7 | Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants | Coautor: Cuevas-Covarrubias, Sergio, Saldaña-Martínez A., Muñoz M.D.L., Perez-Ramirez, Gerardo, et al. | 2019 | Gene | WoS-id: 000457662200021 Scopus-id: 2-s2.0-85058386693
| 13 | 19 |
8 | Gender-specific differences in clinical and metabolic variables associated with NAFLD in a Mexican pediatric population | Coautor: Cuevas-Covarrubias, Sergio, Villanueva-Ortega, Erendira, Garcés-Hernández M.J., Herrera-Rosas, Arturo, et al. | 2019 | Annals Of Hepatology | WoS-id: 000483462300007 Scopus-id: 2-s2.0-85071289499
| 28 | 32 |
9 | Analysis through exome sequencing in patients with non familial primary congenital cataract | Coautor: Cuevas-Covarrubias, S. A., Messina-Baas, O. M., Leon-Oviedo, C., Valdes-Miranda, J. M., et al. | 2019 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489313100098
| 0 | 0 |
10 | Autosomal dominant nystagmus in a large family associated to a novel mutation in the PAX6 gene | Coautor: Cuevas-Covarrubias, S. A., Vega-Gama, R., Gonzalez-Huerta, L. M., Rivera-Vega, M. R., et al. | 2019 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489313100127
| 0 | 0 |
11 | Identification of novel mutations in the PRNP gene in patients with Creutzfeldt Jacob disease | Coautor: Cuevas-Covarrubias, S. A., Tovar-Ayala, M. G., Gonzalez-Huerta, L. M., Vega-Gama, R., et al. | 2019 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489313102147
| 0 | 0 |
12 | Molecular characterization in Mexican patients with limb-girdle muscular dystrophy | Coautor: Cuevas-Covarrubias, S. A., Martinez-Montoya, V., Gonzalez-Huerta, L. M., Rivera-Vega, M. R., et al. | 2019 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489313103030
| 0 | 0 |
13 | 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 | Coautor: Cuevas-Covarrubias, Sergio A., Toral-Lopez, Jaime, Gonzalez-Huerta, Luz M., Martin-del Campo, Monica, et al. | 2018 | PEDIATRIC DERMATOLOGY | WoS-id: 000432027900012 Scopus-id: 2-s2.0-85044303912
| 8 | 10 |
14 | Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients | Coautor: Cuevas-Covarrubias S.A., Hernández-Martínez N., González-del Angel A., Alcántara-Ortigoza M.A., et al. | 2018 | OPHTHALMIC GENETICS | WoS-id: 000451681700009 Scopus-id: 2-s2.0-85057282563
| 3 | 2 |
15 | Partial trisomy 15q21.2-q26.3 and partial deletion Xp22.33-p11.4 3p in a female patient with amenorrhea and normal intelligence | Coautor: Cuevas-Covarrubias, S., Rivera-Vega, M., Gonzalez-Huerta, L., Valdes-Miranda, J., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312604170
| 0 | 0 |
16 | Trisomy 4q22.3-q35.2 in a patient with additional material in 16q24 due to a de novo chromosomal rearrangement | Coautor: Cuevas-Covarrubias, S., Gonzalez-Huerta, L., Rivera-Vega, M., Valdes-Miranda, J., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312604171
| 0 | 0 |
17 | Whole exome sequencing reveals NM_005267.4: c.130G > A mutation in GJA8 gene in a large Mexican family with autosomal dominant cataract | Coautor: Cuevas-Covarrubias, S., Messina-Baas, O., Gonzalez-Huerta, L., Vega-Gama, R. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312607056
| 0 | 0 |
18 | Identification of POUBF4 gene deletion in two Mexican families with hearing impairment through MLPA | Coautor: Cuevas-Covarrubias, S., Martinez-Saucedo, M., Rivera-Vega, M., Gonzalez-Huerta, L., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312607067
| 0 | 0 |
19 | A BRAF gene mutation in a patient with cardiofaciocutaneous syndrome detected through whole exome sequencing in a Mexican patient with additional clinical manifestations | Coautor y autor de correspondencia: Cuevas-Covarrubias, S., Toral-Lopez, J., Gonzalez-Huerta, L. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312608061
| 0 | 0 |
20 | Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis | 2ᵒ autor y autor de correspondencia: Cuevas-Covarrubias, Sergio A., Messina-Baas, Olga | 2017 | Molecular Syndromology | WoS-id: 000395928500002 Scopus-id: 2-s2.0-85011879235
| 56 | 68 |
21 | Effects of conjugated linoleic acid and metformin on insulin sensitivity in obese children: Randomized clinical trial | Coautor: Cuevas, Sergio, Garibay-Nieto, Nayely, Queipo-Garcia, Gloria, Alvarez, Flor, et al. | 2017 | JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | WoS-id: 000397071900017 Scopus-id: 2-s2.0-85010382713
| 24 | 26 |
22 | Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss (vol 79, pg 2295, 2015) | Coautor: Cuevas-Covarrubias, Sergio, Martinez-Saucedo, Mirna, del Refugio Rivera-Vega, Maria, Maria Gonzalez-Huerta, Luz, et al. | 2016 | INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | WoS-id: 000372941700019 Scopus-id: 2-s2.0-84960125304
| 0 | 0 |
23 | A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype | Coautor: Cuevas-Covarrubias, Sergio A., Toral-Lopez, Jaime, Gonzalez-Huerta, Luz M., Messina Baas, Olga | 2016 | Molecular Syndromology | WoS-id: 000393169100006 Scopus-id: 2-s2.0-84961390924
| 2 | 4 |
24 | Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract | Coautor: Cuevas-Covarrubias, Sergio A., Messina-Baas, Olga, Gonzalez-Garay, Manuel L., Gonzalez-Huerta, Luz M., et al. | 2016 | Molecular Syndromology | WoS-id: 000393169400006 Scopus-id: 2-s2.0-84963499822
| 4 | 7 |
25 | Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis | Coautor: Cuevas-Covarrubias S.A., 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 |
26 | Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis | 2ᵒ autor: Cuevas-Covarrubias S., Singh A., Pradhan G., Gautam V.K., et al. | 2015 | INDIAN JOURNAL OF PEDIATRICS | WoS-id: 000355595700015 Scopus-id: 2-s2.0-84927551318
| 8 | 8 |
27 | A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism | Coautor: Cuevas-Covarrubias S., RiveraVega, MD, Gómez-Del Angel L.A., Valdes-Miranda J.M., et al. | 2015 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000356612500001 Scopus-id: 2-s2.0-84931957458
| 4 | 4 |
28 | X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene | Coautor: Cuevas-Covarrubias S.A., Vega, MDR, Murillo-Vilches M.R., Toral-Lopez J., et al. | 2015 | JOURNAL OF DERMATOLOGICAL SCIENCE | WoS-id: 000366882400014 Scopus-id: 2-s2.0-84949322916
| 4 | 5 |
29 | Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss | Coautor: Sergio, CC, Mirna M.-S., del Refugio, RVM, Maria, GHL, et al. | 2015 | INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | WoS-id: 000367411300061 Scopus-id: 2-s2.0-84955185794
| 6 | 5 |
30 | Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q | Coautor: Cuevas-Covarrubias S.A., Martín-De Saro M.D., Valdés-Miranda J.M., Plaza-Benhumea L., et al. | 2015 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000372517600006 Scopus-id: 2-s2.0-84959180804
| 4 | 5 |
31 | A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence | Coautor: Cuevas-Covarrubias S., Valdes-Miranda J.M., Soto-Alvarez J.R., Toral-Lopez J., et al. | 2014 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 000333813500002 Scopus-id: 2-s2.0-84897108972
| 7 | 10 |
32 | Hereditary sensory and autonomic neuropathy type II A: Early neurological and skeletal findings [Neuropatía sensitiva autonómica hereditaria tipo IIA: manifestaciones neurológicas y esqueléticas tempranas] | Coautor: Cuevas Covarrubias S.A., Esmer C., Díaz Zambrano S., Santos Díaz M.A., et al. | 2014 | ANALES DE PEDIATRIA | WoS-id: 000334262200009 Scopus-id: 2-s2.0-84897404598
| 2 | 1 |
33 | Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment | Coautor: Cuevas-Covarrubias, S, Loeza-Becerra, F, Rivera-Vega, MD, Martinez-Saucedo, M, et al. | 2014 | INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | WoS-id: 000338608100017 Scopus-id: 2-s2.0-84902077862
| 8 | 8 |
34 | ADRB1 and ADBR2 Gene Polymorphisms and the Ocular Hypotensive Response to Topical Betaxolol in Healthy Mexican Subjects | Coautor: Cuevas-Covarrubias S.A., Baas, OM, Cuellar, GP, Toral-López J., et al. | 2014 | CURRENT EYE RESEARCH | WoS-id: 000344003900002 Scopus-id: 2-s2.0-84911968171
| 6 | 8 |
35 | Discordant retinoblastoma in monozygotic twins due to deletion of 13q14 | Coautor: Cuevas-Covarrubias S.A., Messina-Baas O.M., Arroyo-Yllanes M.E., Pérez-Pérez J.F., et al. | 2014 | EUROPEAN JOURNAL OF OPHTHALMOLOGY | WoS-id: 000346627400025 Scopus-id: 2-s2.0-84907814331
| 0 | 0 |
36 | Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis | Coautor: Cuevas-Covarrubias S., Plaza-Benhumea L., Valdes-Miranda J.M., Toral-López J., et al. | 2014 | BRITISH JOURNAL OF DERMATOLOGY | WoS-id: 000347236100219 Scopus-id: 2-s2.0-84919459391
| 5 | 5 |
37 | Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma | Coautor: Cuevas-Covarrubias, S, Lopez-Valdez, J, Rivera-Vega, MR, Gonzalez-Huerta, LM, et al. | 2013 | PEDIATRIC DERMATOLOGY | WoS-id: 000318360200024 Scopus-id: 2-s2.0-84876901332
| 8 | 9 |
38 | A CRYGC gene mutation associated with autosomal dominant pulverulent cataract | Coautor: Cuevas-Covarrubias S.A., González-Huerta L.M., Messina-Baas O., Urueta H., et al. | 2013 | Gene | WoS-id: 000324669200029 Scopus-id: 2-s2.0-84883553863
| 8 | 9 |
39 | An Intellectually Disabled Patient With the 5q14.3q15 Microdeletion Syndrome Associated With an Apparently De Novo t(2;5)(q13;q14) | Coautor: Cuevas-Covarrubias, SA, Toral-Lopez, J, Buentello-Volante, B, Balderas-Minor, MM, et al. | 2012 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000302544200041 Scopus-id: 2-s2.0-84858997214
| 7 | 7 |
40 | Identification of Two Novel Mutations in TRPS1 Gene in Families With Tricho-Rhino-Phalangeal Type I Syndrome | Coautor: Cuevas-Covarrubias S.A., Flores-Cuevas A., Mutchinick O., Morales-Suárez J.J., et al. | 2012 | JOURNAL OF INVESTIGATIVE MEDICINE | WoS-id: 000303344800022 Scopus-id: 2-s2.0-84860806729
| 3 | 3 |
41 | Complete monosomy mosaic of chromosome 21: Case report and review of literature | Coautor y autor de correspondencia: Cuevas-Covarrubias, SA, Toral-Lopez, J, Gonzalez-Huerta, LM | 2012 | Gene | WoS-id: 000311069300013 Scopus-id: 2-s2.0-84867336899
| 9 | 10 |
42 | Familial pycnodysostosis: Identification of a novel mutation in the CTSK gene (cathepsin K) | Coautor: Cuevas-Covarrubias, SA, Toral-Lopez, J, Gonzalez-Huerta, LM, Sosa, B, et al. | 2011 | JOURNAL OF INVESTIGATIVE MEDICINE | WoS-id: 000286461500009 Scopus-id: 2-s2.0-85008249098
| 11 | 13 |
43 | Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families | Coautor: Cuevas-Covarrubias, SA, Pacheco-Cuellar, G, Gonzalez-Huerta, LM, Valdes-Miranda, JM, et al. | 2011 | JOURNAL OF NEUROLOGY | WoS-id: 000295534400022 Scopus-id: 2-s2.0-80054733556
| 13 | 12 |
44 | Noonan syndrome: Prenatal diagnosis in a woman carrying a PTPN11 gene mutation | Coautor: Cuevas-Covarrubias, SA, Gonzalez-Huerta, NC, Valdes-Miranda, JM, Perez-Cabrera, A, et al. | 2010 | JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE | WoS-id: 000279865300020 Scopus-id: 2-s2.0-77953641920
| 7 | 7 |
45 | Evaluation of iron status in healthy six-month-old infants in Mexican population: Evidence of a high prevalence of iron deficiency | Coautor: Cuevas-Covarrubias S.A., Beristain-Manterola R., Pasquetti-Ceccatelli A., Meléndez-Mier G., et al. | 2010 | E-Spen | Scopus-id: 2-s2.0-77149139132
| 0 | 3 |
46 | Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene | Coautor: Cuevas-Covarrubias, S, 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 |
47 | Satoyoshi Syndrome With Unusual Skeletal Abnormalities and Parental Consanguinity | Coautor: Cuevas-Covarrubias S., Venegas-Vega C.A., Rivera-Vega M.R., Orozco J., et al. | 2009 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000271587600015 Scopus-id: 2-s2.0-70449346630
| 7 | 9 |
48 | Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis | 1ᵉʳ autor: Cuevas-Covarrubias, SA, Gonzalez-Huerta, LM | 2008 | BRITISH JOURNAL OF DERMATOLOGY | WoS-id: 000253120700008 Scopus-id: 2-s2.0-39049156843
| 34 | 41 |
49 | Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome | Coautor y autor de correspondencia: Cuevas-Covarrubias, SA, Toral-Lopez, J, Gonzalez-Huerta, LM | 2008 | BRITISH JOURNAL OF DERMATOLOGY | WoS-id: 000254122100021 Scopus-id: 2-s2.0-40949133742
| 7 | 9 |
50 | Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects | Coautor: Cuevas-Covarrubias S., Rivera D., Mejia-Lopez H., Pompa-Mera E.N., et al. | 2008 | BRITISH JOURNAL OF OPHTHALMOLOGY | WoS-id: 000257109700029 Scopus-id: 2-s2.0-47049107609
| 8 | 10 |
51 | A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity | Coautor: Cuevas-Covarrubias, S, Gonzalez-Huerta, L, Ramirez-Sanchez, V, Rivera-Vega, M, et al. | 2008 | BRITISH JOURNAL OF HAEMATOLOGY | WoS-id: 000260333100019 Scopus-id: 2-s2.0-54849431403
| 7 | 8 |
52 | Molecular analysis of the CYP1B1 gene: Identification of novel truncating mutations in patients with primary congenital glaucoma | Coautor: Cuevas-Covarrubias S.A., 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 |
53 | Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout | Coautor: Cuevas-Covarrubias S., Vázquez-Mellado J., Jiménez-Vaca A.L., Alvarado-Romano V., et al. | 2007 | Rheumatology | WoS-id: 000243810100007 Scopus-id: 2-s2.0-33846675673
| 62 | 71 |
54 | Homozygous frameshift mutation in the SLC22A12 gene in a patient with primary gout and high levels of serum uric acid | Coautor: Cuevas-Covarrubias S.A., Vázquez-Mellado J., Alvarado-Romano V., Burgos-Vargas R., et al. | 2007 | JOURNAL OF CLINICAL PATHOLOGY | WoS-id: 000248353000022 Scopus-id: 2-s2.0-34547802776
| 9 | 11 |
55 | A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: Evidence of clinical heterogeneity | Coautor y autor de correspondencia: Cuevas-Covarrubias S.A., Gonzalez-Huerta L.M., Messina-Baas O.M. | 2007 | MOLECULAR VISION | WoS-id: 000248647100002 Scopus-id: 2-s2.0-34547395801
| 21 | 23 |
56 | Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene | 2ᵒ autor: Cuevas-Covarrubias S.A., Gonzalez-Huerta L.M., Messina-Baas O.M. | 2007 | JOURNAL OF DERMATOLOGICAL SCIENCE | WoS-id: 000249442400007 Scopus-id: 2-s2.0-34548020276
| 6 | 7 |
57 | Point mutation in the STS gene in a severely affected patient with x-linked recessive ichthyosis [12] | Coautor: Cuevas-Covarrubias S.A., 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 |
58 | Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene | Coautor y autor de correspondencia: Cuevas-Covarrubias S.A., Messina-Baas O.M., Gonzalez-Huerta L.M. | 2006 | MOLECULAR VISION | WoS-id: 000240161300001 Scopus-id: 2-s2.0-33747832463
| 40 | 50 |
59 | Retinoblastoma in monozygotic twins resulting from a post-zygotic event [Retinoblastoma en gemelas monocigotas resultado de un evento postcigótico] | Coautor: Cuevas-Covarrubias S.A., Yllanes M.E.A., Pérez J.F.P., González-Huerta L.M. | 2006 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-34948818727
| 0 | 0 |
60 | Molecular analysis of the NDP gene in two families with Norrie disease | Coautor: Cuevas-Covarrubias S.A., Rivera-Vega M.R., Chiñas-Lopez S., Jimenez Vaca A.L., et al. | 2005 | ACTA OPHTHALMOL SCAN | WoS-id: 000227969600013 Scopus-id: 2-s2.0-17644415353
| 7 | 9 |
61 | Topical tazarotene 0.05% versus glycolic acid 70% treatment in X-linked ichthyosis due to extensive deletion of the STS gene [2] | 2ᵒ autor: Cuevas-Covarrubias S.A., Cotellessa C., Valeri P., Fargnoli M.C., et al. | 2005 | ACTA DERM-VENEREOL | WoS-id: 000231248700013 Scopus-id: 2-s2.0-23444436515
| 10 | 10 |
62 | Clinical spectrum of a family with autosomal dominant lamellar cataract [Espectro clínico en una familia con catarata lamelar autosómica dominante] | Coautor y autor de correspondencia: Cuevas-Covarrubias S.A., Messina-Baas O.M., González-Huerta L.M. | 2005 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-34848874828
| 0 | 0 |
63 | Primary congenital glaucoma: Molecular study in a family with two affected cases [Glaucoma congénito primario: Estudio molecular en una familia con dos casos afectados] | Coautor: Cuevas-Covarrubias S.A., González-Huerta L.M., Messina-Baas O.M., Lara-Huerta S.F., et al. | 2005 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-34948850270
| 0 | 1 |
64 | Norrie disease. Presentation of a familiar case [Enfermedad de Norrie. Presentación de un caso familiar] | 2ᵒ autor y autor de correspondencia: Cuevas-Covarrubias S.A., Messina-Baas O.M. | 2005 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-34948873093
| 0 | 0 |
65 | Molecular analysis of isolated cases with primary congenital glaucoma: Preliminary study [Análisis molecular de casos aislados con glaucoma congénito primario: Estudio preliminar] | Coautor: Cuevas-Covarrubias S.A., Chima-Galán M.C., González-Huerta L.M., Rivera-Vega M.R., et al. | 2005 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-35148818808
| 0 | 0 |
66 | Tinea imbricata: Autosornal dominant pattern of susceptibility in a polygamous indigenous family of the Nahuatl zone in Mexico | Coautor: Cuevas-Covarrubias S., Bonifaz A., Araiza J., Koffman-Alfaro S., et al. | 2004 | Mycoses | Scopus-id: 2-s2.0-4344581918
| 9 | 22 |
67 | Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency [1] | Coautor: Cuevas-Covarrubias S.A., González-Huerta L.M., Riviera-Vega M.R., Kofman-Alfeuro S.H. | 2003 | CLINICAL ENDOCRINOLOGY | WoS-id: 000184427100017 Scopus-id: 2-s2.0-0041664873
| 5 | 4 |
68 | A novel association in a family with oculo-auriculo-vertebral spectrum and X-linked ichthyosis [3] | Coautor: Cuevas-Covarrubias S.A., Rivera-Vega M.R., Dueñas E., Jimenez-Vaca A.L., et al. | 2003 | PEDIATRIC DERMATOLOGY | Scopus-id: 2-s2.0-0037361367
| 0 | 3 |
69 | 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: Cuevas-Covarrubias S.A., 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 |
70 | Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Jiménez-Vaca A.L., González-Huerta L.M., Valdes-Flores M., et al. | 2002 | JOURNAL OF INVESTIGATIVE DERMATOLOGY | WoS-id: 000179072800030 Scopus-id: 2-s2.0-0036431398
| 8 | 14 |
71 | Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis | Coautor: Cuevas-Covarrubias S.A., Valdes-Flores M., Kofman-Alfaro S.H., Jimenez Vaca A.L. | 2001 | JOURNAL OF INVESTIGATIVE DERMATOLOGY | WoS-id: 000167222200015 Scopus-id: 2-s2.0-0035092927
| 15 | 18 |
72 | Characterization of a novel point mutation (Arg432His) in X-linked ichthyosis [1] | Coautor: Cuevas-Covarrubias S.A., Valdes-Flores M., Jimenez Vaca A.L., Kofman-Alfaro S.H. | 2001 | ACTA DERM-VENEREOL | WoS-id: 000168891600015 Scopus-id: 2-s2.0-0035010669
| 5 | 5 |
73 | Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis | Coautor: Cuevas-Covarrubias S.A., Valdes-Flores M., Kofman-Alfaro S.H., Jimenez-Vaca A.L. | 2001 | AM J MED GENET | WoS-id: 000170001400005 Scopus-id: 2-s2.0-0035425950
| 16 | 21 |
74 | Maternal transmission of the 3 bp deletion within exon 7 of the STS gene in steroid sulfatase deficiency [5] | Coautor: Cuevas-Covarrubias S.A., Valdes-Flores M., Jimenez Vaca A.L., Rivera-Vega M.R., et al. | 2001 | JOURNAL OF INVESTIGATIVE DERMATOLOGY | WoS-id: 000171847500031 Scopus-id: 2-s2.0-0034778477
| 3 | 3 |
75 | Unusual clinical presentation in two cases of multiple sulfatase deficiency | Coautor: Cuevas-Covarrubias S.A., Blanco-Aguirre M.E., Kofman-Alfaro S.H., Rivera-Vega M.R., et al. | 2001 | PEDIATRIC DERMATOLOGY | WoS-id: 000172198200005 Scopus-id: 2-s2.0-0035171732
| 19 | 21 |
76 | Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population | Coautor: Cuevas-Covarrubias S.A., Jimenez Vaca A.L., Valdes-Flores M., Rivera-Vega M.D.R., et al. | 2001 | MOLECULAR MEDICINE | Scopus-id: 2-s2.0-0035717589
| 0 | 29 |
77 | A novel partial deletion of exons 2-10 of the STS gene in recessive X- linked ichthyosis | Coautor: Cuevas-Covarrubias S.A., Valdes-Flores M., Kofman-Alfaro S.H., Jimenez Vaca A.L. | 2000 | JOURNAL OF INVESTIGATIVE DERMATOLOGY | WoS-id: 000086187800028 Scopus-id: 2-s2.0-0034146404
| 21 | 21 |
78 | An atypical contiguous gene syndrome: Molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis | Coautor: Cuevas-Covarrubias S., Maya-Nuñez G., Torres L., Ulloa-Aguirre A., et al. | 1999 | CLINICAL ENDOCRINOLOGY | WoS-id: 000078992700004 Scopus-id: 2-s2.0-0033017287
| 13 | 19 |
79 | Steroid sulfatase activity in leukocytes: A comparative study in 45,X;46,Xi(Xq) and carriers of steroid sulfatase deficiency | Coautor: Cuevas-Covarrubias S.A., Miranda-Duarte A., Valdés-Flores M., Miranda-Zamora R., et al. | 1999 | BIOCHEM MOL BIOL INT | WoS-id: 000079024100014 Scopus-id: 2-s2.0-0344177609
| 5 | 5 |
80 | Most 'sporadic' cases of X-linked ichthyosis are not de novo mutations | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Valdes-Flores M., Orozco E.O., Díaz-Zagoya J.C., et al. | 1999 | ACTA DERM-VENEREOL | WoS-id: 000079702800012 Scopus-id: 2-s2.0-0032968580
| 6 | 9 |
81 | Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico [2] | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Diaz-Zagoya J.C., Rivera-Vega M.R., Beirana A., et al. | 1999 | INTERNATIONAL JOURNAL OF DERMATOLOGY | WoS-id: 000081531200017 Scopus-id: 2-s2.0-0032800190
| 7 | 12 |
82 | Ichthyosis vulgaris and X-linked ichthyosis: Simultaneous segregation in the same family [16] | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Valdes-Flores M., Rivera-Vega M.R., Diaz-Zagoya J.C., et al. | 1999 | ACTA DERM-VENEREOL | WoS-id: 000083725600032 Scopus-id: 2-s2.0-0032706509
| 1 | 2 |
83 | Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene | 2ᵒ autor: Cuevas-Covarrubias S., Maya-Núñez G., Zenteno J.C., Ulloa-Aguirre A., et al. | 1998 | CLINICAL ENDOCRINOLOGY | WoS-id: 000074262600007 Scopus-id: 2-s2.0-0031839020
| 29 | 36 |
84 | Are atopy and palm-sole hyperlinearity clinical tools in the differential diagnosis between ichthyosis vulgaris and X-linked ichthyosis? [1] | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Valdés-Flores M., Orozco E.O., Díaz-Zagoya J.C., et al. | 1998 | JOURNAL OF DERMATOLOGY | Scopus-id: 2-s2.0-0031688594
| 0 | 3 |
85 | X-linked ichthyosis in Mexico: High frequency of deletions in the steroid sulfatase encoding gene | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Kofman-Alfaro S.H., Maya-Núñez G., Díaz-Zagoya J.C., et al. | 1997 | AM J MED GENET | WoS-id: A1997YD48100008 Scopus-id: 2-s2.0-0030731869
| 16 | 18 |
86 | Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Kofman-Alfaro S.H., Palencia A.B., Díaz-Zagoya J.C. | 1996 | JOURNAL OF DERMATOLOGY | Scopus-id: 2-s2.0-0029855136
| 0 | 3 |
87 | Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome [5] | Coautor: Cuevas-Covarrubias S.A., Rivera-Vega M.R., Juarez N.L., Kofman-Alfaro S.H. | 1996 | CLINICAL GENETICS | WoS-id: A1996VZ78100027 Scopus-id: 2-s2.0-0030474652
| 12 | 16 |
88 | The biochemical identification of carrier state in mothers of sporadic cases of x-linked recessive ichthyosis | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Kofman-Alfaro S., Orozco Orozco E., Diaz-Zagoya J.C. | 1995 | GENET COUNSEL | WoS-id: A1995RD80500002 Scopus-id: 2-s2.0-0029023450
| 7 | 9 |
89 | Erythrocyte fatty acids in children with severe protein-calorie malnutrition [Los ácidos grasos eritrocíticos de niños con desnutrición energético proteica grave.] | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Rojo-Callejas F., Juárez-Oropeza M.A., Díaz-Zagoya J.C. | 1994 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: A1994NZ96000003 Scopus-id: 2-s2.0-0028433102
| 0 | 1 |
90 | Inguinal hernia in recessive x-linked Ichthyosis | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Kofman-Alfaro S.H., Rivera-Vega M.D.R., Palencia A.B., et al. | 1994 | JOURNAL OF DERMATOLOGY | Scopus-id: 2-s2.0-0028726601
| 0 | 1 |
91 | Comparative analysis of human steroid sulfatase activity in prepubertal and postpubertal males and females | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Juarez-Oropeza M.A., Miranda-Zamora R., Diaz-Zagoya J.C. | 1993 | Biochemistry International | WoS-id: A1993LT17700012 Scopus-id: 2-s2.0-0027249340
| 19 | 18 |
92 | Comparative analysis of erythrocyte fatty acid composition in a sample of Mexico City children and young adults on a free diet | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Miranda-Zamora R., Juarez-Oropeza M.A., Diaz-Zagoya J.C. | 1993 | Archives Of Medical Research | Scopus-id: 2-s2.0-0027716164
| 0 | 3 |
93 | Genetic disorders in sexual differentiation in humans [Trastornos genéticos de la diferenciación sexual en el humano.] | Coautor: Cuevas-Covarrubias S.A., Salamanca-Gómez F., Kofman-Alfaro S.H., Armendares S., et al. | 1992 | GACETA MEDICA DE MEXICO | Scopus-id: 2-s2.0-0026449139
| 0 | 1 |
94 | The human Y chromosome [El cromosoma Y humano.] | 1ᵉʳ autor: Cuevas-Covarrubias S.A., Kofman-Alfaro S.H. | 1990 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: A1990EU32700008 Scopus-id: 2-s2.0-0025504118
| 0 | 0 |