| 1 | Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect | Coautor: González-del Angel A., Fernández-Lainez C., Vela-Amieva M., Reyna-Fabián M., et al. | 2024 | Molecular Genetics and Metabolism Reports | WoS-id: 001339819200001
Scopus-id: 2-s2.0-85206494559
| 0 | 0 |
| 2 | Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management | Coautor: González-del Angel, A, Vela-Amieva, M, Alcántara-Ortigoza, MA, Fernández-Hernández, L, et al. | 2024 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | WoS-id: 001351261400001
Scopus-id: 2-s2.0-85208564008
| 0 | 0 |
| 3 | In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening | Coautor: González-del Angel A., Vela-Amieva M., Alcántara-Ortigoza M.A., Ibarra-González I., et al. | 2023 | Children-Basel | WoS-id: 001132822500001
Scopus-id: 2-s2.0-85180716992
| 0 | 0 |
| 4 | Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature? | Coautor: González-del Angel A., Hernández L.F., Ortigoza M.A.A., Angeles S.E.R. | 2022 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000745638400001
Scopus-id: 2-s2.0-85123526361
| 1 | 1 |
| 5 | Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity | Coautor: Gonzalez-Del Angel, Ariadna, Estandia-Ortega, Bernardette, Fernandez-Hernandez, Liliana, Alcantara-Ortigoza, Miguel Angel | 2022 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000750945300001
Scopus-id: 2-s2.0-85124488845
| 2 | 2 |
| 6 | Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome | Coautor: del Angel A.G., Fernández-Hernández L., Reyna-Fabián M.E., Alcántara-Ortigoza M.A., et al. | 2022 | Diagnostics | WoS-id: 000803365900001
Scopus-id: 2-s2.0-85130883933
| 1 | 1 |
| 7 | Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center | Coautor: Gonzalez-Del Angel, A., Vela-Amieva, M., Alcantara-Ortigoza, M. A., Ibarra-Gonzalez, I., et al. | 2022 | Frontiers in Genetics | WoS-id: 000877139800001
Scopus-id: 2-s2.0-85140641039
| 5 | 5 |
| 8 | The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes | Coautor: Gonzalez-del Angel, Ariadna, Estandia-Ortega, Bernardette, Reyna-Fabián M.E., Velázquez-Aragón J.A., et al. | 2022 | LIFE-BASEL | WoS-id: 000882101600001
Scopus-id: 2-s2.0-85141797854
| 4 | 3 |
| 9 | Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency | Coautor: González-del Angel A., Alcántara-Ortigoza M.A., Hernández-Ochoa B., Ibarra-González I., et al. | 2022 | CLINICAL BIOCHEMISTRY | WoS-id: 000898934500010
Scopus-id: 2-s2.0-85138041723
| 5 | 5 |
| 10 | Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2 | Coautor: Gonzalez-del Angel, A., Yamazaki-Nakashimada, M. A., Roldan-Marin, R., Toussaint-Caire, S., et al. | 2021 | JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | WoS-id: 000550757000001
Scopus-id: 2-s2.0-85088286216
| 1 | 2 |
| 11 | Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening | Coautor: González-del Angel A., Vela-Amieva M., Alcántara-Ortigoza M.A., Belmont-Martínez L., et al. | 2021 | ORPHANET JOURNAL OF RARE DISEASES | WoS-id: 000622331000001
Scopus-id: 2-s2.0-85101749732
| 6 | 6 |
| 12 | Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR | Coautor: Angel A.G., Alcantara-Ortigoza, Miguel Angel, Sanchez-Verdiguel, Irais, Fernandez-Hernandez, Liliana, et al. | 2021 | Children-Basel | WoS-id: 000665418800001
Scopus-id: 2-s2.0-85112699290
| 3 | 3 |
| 13 | Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report | Coautor: González-del Angel A., Neumann A., Alcantara-Ortigoza M.A., Díaz N.A.Z., et al. | 2021 | World Journal Of Clinical Cases | WoS-id: 000749647500017
Scopus-id: 2-s2.0-85119423880
| 1 | 1 |
| 14 | TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant | Coautor: Gonzalez-del Angel, Ariadna, Reyna-Fabian, Miriam E., Alcantara-Ortigoza, Miguel A., Hernandez-Martinez, Nancy L., et al. | 2020 | Nefrologia | WoS-id: 000507855500011
Scopus-id: 2-s2.0-85078574169
| 8 | 9 |
| 15 | First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants | Coautor: Gonzalez-del Angel, Ariadna, Reyna-Fabian, Miriam E., Hernandez-Martinez, Nancy L., Alcantara-Ortigoza, Miguel A., et al. | 2020 | SCIENTIFIC REPORTS | WoS-id: 000537155000019
Scopus-id: 2-s2.0-85083781910
| 19 | 20 |
| 16 | Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria | Coautor: Gonzalez Del Angel A., Martínez Anaya D., Fernandez Hernandez L., Alcantara Ortigoza M.A., et al. | 2020 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000546412400002
Scopus-id: 2-s2.0-85085368331
| 0 | 0 |
| 17 | Tumor de cordón sexual con túbulos anulares y cistadenoma mucinoso de ovario en una adolescente con síndrome de Peutz-Jeghers | Coautor: González-del Ángel A., Garza-Elizondo R., Silva-Martínez M.T., Fuentes-Gutiérrez D., et al. | 2020 | ACTA PEDIATRICA DE MEXICO | Scopus-id: 2-s2.0-85091911932
| 0 | 1 |
| 18 | Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene | Coautor: González-del Angel A., Caro-Contreras A., Alcántara-Ortigoza M.A., Ahumada-Pérez J.F. | 2019 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000456891400018
Scopus-id: 2-s2.0-85058850502
| 3 | 3 |
| 19 | Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus | Coautor: Gonzalez-Del Angel, Ariadna, Chacon-Camacho, Oscar F., Salgado-Medina, Acatzin, Alcaraz-Lares, Nayeli, et al. | 2019 | Gene | WoS-id: 000472241500008
Scopus-id: 2-s2.0-85065077602
| 6 | 9 |
| 20 | Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion | Coautor: González-Del Angel A., Fernández-Hernández L., Navarro-Cobos M.J., Alcántara-Ortigoza M.A., et al. | 2019 | MOLECULAR CYTOGENETICS | WoS-id: 000478685400001
Scopus-id: 2-s2.0-85073890835
| 0 | 0 |
| 21 | Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant | Coautor: Gonzalez-Del Angel, Ariadna, Ibarra-Gonzalez, Isabel, Fernandez-Lainez, Cynthia, Alcántara-Ortigoza M.A., et al. | 2019 | Molecular Genetics & Genomic Medicine | WoS-id: 000488590900001
Scopus-id: 2-s2.0-85073958470
| 5 | 5 |
| 22 | Expanding the clinical features of autoinflammation and phospholipase C?2-associated antibody deficiency and immune dysregulation by description of a novel patient | Coautor: González-del-Angel A., Morán-Villaseñor E., Saez-de-Ocariz M., Torrelo A., et al. | 2019 | JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | WoS-id: 000492231000001
Scopus-id: 2-s2.0-85074640917
| 25 | 30 |
| 23 | Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: Revealing the genetic basis of clinical manifestations | Coautor: Gonzalez-Del Angel, A., Salas-Labadia, C., Gomez-Carmona, S., Cruz-Alcivar, R., et al. | 2019 | ORPHANET JOURNAL OF RARE DISEASES | WoS-id: 000497424400002
Scopus-id: 2-s2.0-85075037719
| 17 | 19 |
| 24 | Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants | 1ᵉʳ autor: González-del Angel A., Bisciglia M., Vargas-Cañas S., Fernandez-Valverde F., et al. | 2019 | FRONTIERS IN NEUROLOGY | WoS-id: 000497657800001
Scopus-id: 2-s2.0-85073771113
| 7 | 9 |
| 25 | Predominance of dystrophinopathy genotypes in mexican male patients presenting as muscular dystrophy with a normal multiplex polymerase chain reaction DMD gene result: A study including targeted next-generation sequencing | Coautor: Gonzalez-del Angel, Ariadna, Alcántara-Ortigoza M.A., Reyna-Fabián M.E., Estandia-Ortega, Bernardette, et al. | 2019 | GENES | WoS-id: 000502296000022
Scopus-id: 2-s2.0-85074443762
| 9 | 10 |
| 26 | Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report | Coautor: González-del Ángel A., Neumann A., Alcántara-Ortigoza M.A., Camargo-Diaz F., et al. | 2019 | World Journal Of Clinical Cases | WoS-id: 000504077400012
Scopus-id: 2-s2.0-85078572807
| 1 | 1 |
| 27 | Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family | 1ᵉʳ autor: González-del Angel A., Caro-Contreras A., Alcántara-Ortigoza M.A., Ramos S., et al. | 2018 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000417872600021
Scopus-id: 2-s2.0-85034226099
| 2 | 2 |
| 28 | Further delineation of achondroplasia?hypochondroplasia complex with long-term survival | 1ᵉʳ autor: González-del Angel A., Rius R., Alcántara-Ortigoza M.A., Spector E., et al. | 2018 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000433440600025
Scopus-id: 2-s2.0-85045832498
| 0 | 0 |
| 29 | Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico | Coautor: González-del Ángel A., Fernández-Lainez C., Ibarra-González I., Alcántara-Ortigoza M., et al. | 2018 | BRAIN & DEVELOPMENT | WoS-id: 000440117700002
Scopus-id: 2-s2.0-85045936112
| 5 | 5 |
| 30 | Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants | Coautor: Gonzalez del Angel, Ariadna, Ibarra-Gonzalez, Isabel, Campos-Garcia, Felix-Julian, del Alba Herrera-Perez, Luz, et al. | 2018 | JOURNAL OF MEDICAL SCREENING | WoS-id: 000441404900003
Scopus-id: 2-s2.0-85055691032
| 9 | 10 |
| 31 | Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family | 2ᵒ autor: González-del Angel A., Rius R., Velázquez-Aragón J., Cordero-Guzmán L., et al. | 2018 | NEUROLOGY INDIA | WoS-id: 000447540700047
Scopus-id: 2-s2.0-85050650002
| 4 | 3 |
| 32 | Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations | Coautor: del Angel A.G., Gkourogianni A., Andrew M., Tyzinski L., et al. | 2017 | JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | WoS-id: 000397240900018
Scopus-id: 2-s2.0-85012081706
| 91 | 101 |
| 33 | An uncommon inheritance pattern in Niemann-Pick disease type C: Identification of probable paternal germline mosaicism in a Mexican family | Coautor: González-del Angel A., Cervera-Gaviria M., Alcántara-Ortigoza M.A., Moyers-Pérez P., et al. | 2016 | BMC NEUROLOGY | WoS-id: 000381826100001
Scopus-id: 2-s2.0-84983541853
| 5 | 8 |
| 34 | Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis | 1ᵉʳ autor: González-del Angel A., Estandía-Ortega B., Alcántara-Ortigoza M.A., Martínez-Cruz V., et al. | 2016 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000388199100020
Scopus-id: 2-s2.0-84992093446
| 10 | 11 |
| 35 | Germinal mosaicism in a sample of families with duchenne/becker muscular dystrophy with Partial Deletions in the DMD Gene | Coautor: Angel A.G.-D., Bermúdez-López C., Teresa B.G.-D., Alcántara-Ortigoza M.A. | 2014 | GENETIC TESTING AND MOLECULAR BIOMARKERS | WoS-id: 000331388300006
Scopus-id: 2-s2.0-84893777347
| 16 | 18 |
| 36 | A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival | 1ᵉʳ autor: González-del Angel A., Estandia-Ortega B., Gaviño-Vergara A., Sáez-De-Ocariz M., et al. | 2014 | PEDIATRIC DERMATOLOGY | WoS-id: 000341811700008
Scopus-id: 2-s2.0-84908318347
| 8 | 11 |
| 37 | CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis | Coautor: González-del Angel A., Alcántara-Ortigoza M.A., Martínez-Bernal A.B., Belmont-Martínez L., et al. | 2013 | Journal Of Pediatric Genetics | Scopus-id: 2-s2.0-85013592356
| 0 | 4 |
| 38 | Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: Identification of the recurrent p.Arg31His mutation | 2ᵒ autor: González-del Angel A., Alcántara-Ortigoza M.A., Martínez-Cruz V., Vela-Amieva M., et al. | 2012 | CLINICAL ENDOCRINOLOGY | WoS-id: 000297739700024
Scopus-id: 2-s2.0-83455200241
| 6 | 5 |
| 39 | Phenotype?genotype discrepancy due to a 5.5-kb deletion in the GALT gene | 1ᵉʳ autor: del Angel A.G., Velázquez-Aragón J., Alcántara-Ortigoza M.A., Vela-Amieva M., et al. | 2012 | Jimd Reports | WoS-id: 000301089700001
Scopus-id: 2-s2.0-85060691425
| 0 | 1 |
| 40 | Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3) | Coautor: González-del Angel A., Cervera M., Sánchez S., Molina B., et al. | 2005 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000230949400017
Scopus-id: 2-s2.0-23044512676
| 22 | 26 |
| 41 | Carrier detection and prenatal molecular diagnosis in a duchenne muscular dystrophy family without any affected relative available | Coautor: González-del Angel A., Alcántara M.A., García-Cavazos R., Hernández-U E., et al. | 2001 | ANN GENET-PARIS | WoS-id: 000172053300008
Scopus-id: 2-s2.0-0034755465
| 9 | 15 |
ID's SCOPUS 