| 1 | Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect | Coautor: Alcántara-Ortigoza M.Á., 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
| 1 | 1 |
| 2 | Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management | 2ᵒ autor: Alcántara-Ortigoza, MA, Vela-Amieva, M, González-del Angel, A, 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 | 2ᵒ autor: Alcántara-Ortigoza M.A., Vela-Amieva M., González-del Angel 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? | 2ᵒ autor: Ortigoza M.A.A., Hernández L.F., Angeles S.E.R., González-del Angel A. | 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: Alcantara-Ortigoza, Miguel Angel, Estandia-Ortega, Bernardette, Fernandez-Hernandez, Liliana, Gonzalez-Del Angel, Ariadna | 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: Alcántara-Ortigoza M.A., Fernández-Hernández L., Reyna-Fabián M.E., Aláez-Verson C., 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 | 2ᵒ autor: Alcantara-Ortigoza, M. A., Vela-Amieva, M., Ibarra-Gonzalez, I., Gonzalez-Del Angel, A., 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: Alcántara-Ortigoza M.A., 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 | 1ᵉʳ autor: Alcántara-Ortigoza M.A., Hernández-Ochoa B., González-del Angel A., 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: Alcantara-Ortigoza, M. 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 | 2ᵒ autor: Alcántara-Ortigoza M.A., Vela-Amieva M., González-del Angel 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 | 1ᵉʳ autor: Alcantara-Ortigoza, Miguel Angel, Sanchez-Verdiguel, Irais, Fernandez-Hernandez, Liliana, Enriquez-Flores, Sergio, et al. | 2021 | Children-Basel | WoS-id: 000665418800001
Scopus-id: 2-s2.0-85112699290
| 3 | 3 |
| 13 | Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate | Coautor: Alcántara-Ortigoza M.A., Velázquez-Aragón J.A., Angel A.G.-D., Reyna-Fabián M.E., et al. | 2021 | CLEFT PALATE-CRAN J | WoS-id: 000691357500007
Scopus-id: 2-s2.0-85097777693
| 2 | 3 |
| 14 | Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report | 2ᵒ autor: Alcantara-Ortigoza M.A., Neumann A., González-del Angel A., Díaz N.A.Z., et al. | 2021 | World Journal Of Clinical Cases | WoS-id: 000749647500017
Scopus-id: 2-s2.0-85119423880
| 1 | 1 |
| 15 | First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants | Coautor: Alcantara-Ortigoza, Miguel A., Reyna-Fabian, Miriam E., Hernandez-Martinez, Nancy L., Ayala-Sumuano, Jorge T., et al. | 2020 | SCIENTIFIC REPORTS | WoS-id: 000537155000019
Scopus-id: 2-s2.0-85083781910
| 20 | 22 |
| 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: Alcantara Ortigoza M.A., Martínez Anaya D., Fernandez Hernandez L., Gonzalez Del Angel A., et al. | 2020 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000546412400002
Scopus-id: 2-s2.0-85085368331
| 0 | 0 |
| 17 | Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene | 2ᵒ autor: Alcántara-Ortigoza M.A., Caro-Contreras A., Ahumada-Pérez J.F., González-del Angel A. | 2019 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000456891400018
Scopus-id: 2-s2.0-85058850502
| 3 | 3 |
| 18 | Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population | Coautor: Angel Alcantara-Ortigoza, Miguel, Gonzalez-del Angel, Ariadna, Fernandez-Hernandez, Liliana, Sanchez-Verdiguel, Irais, et al. | 2019 | Journal Of Pediatric Genetics | WoS-id: 000467619600001
| 1 | 0 |
| 19 | Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion | Coautor: Alcántara-Ortigoza M.A., Fernández-Hernández L., Navarro-Cobos M.J., Ramos-Ángeles S.E., et al. | 2019 | MOLECULAR CYTOGENETICS | WoS-id: 000478685400001
Scopus-id: 2-s2.0-85073890835
| 0 | 0 |
| 20 | Skewed x-inactivation in a female carrier with x-linked chronic granulomatous disease | Coautor: Alcantara-Ortigoza M.Á., López-Hernández I., Deswarte C., Del Mar Saez-De-Ocariz M., et al. | 2019 | IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY | WoS-id: 000485752000011
Scopus-id: 2-s2.0-85072206164
| 5 | 8 |
| 21 | Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant | Coautor: Alcántara-Ortigoza M.A., Ibarra-Gonzalez, Isabel, Fernandez-Lainez, Cynthia, Gonzalez-Del Angel, Ariadna, 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: Alcántara-Ortigoza M.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
| 26 | 31 |
| 23 | 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 | 1ᵉʳ autor: Alcántara-Ortigoza M.A., Reyna-Fabián M.E., Gonzalez-del Angel, Ariadna, Estandia-Ortega, Bernardette, et al. | 2019 | GENES | WoS-id: 000502296000022
Scopus-id: 2-s2.0-85074443762
| 9 | 10 |
| 24 | Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report | 2ᵒ autor: Alcántara-Ortigoza M.A., Neumann A., González-del Ángel A., Camargo-Diaz F., et al. | 2019 | World Journal Of Clinical Cases | WoS-id: 000504077400012
Scopus-id: 2-s2.0-85078572807
| 1 | 1 |
| 25 | Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family | Coautor: Alcántara-Ortigoza M.A., González-del Angel A., Caro-Contreras A., Ramos S., et al. | 2018 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000417872600021
Scopus-id: 2-s2.0-85034226099
| 3 | 3 |
| 26 | Further delineation of achondroplasia?hypochondroplasia complex with long-term survival | Coautor: Alcántara-Ortigoza M.A., González-del Angel A., Rius R., Spector E., et al. | 2018 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000433440600025
Scopus-id: 2-s2.0-85045832498
| 0 | 0 |
| 27 | Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico | Coautor: Alcántara-Ortigoza M., Fernández-Lainez C., Ibarra-González I., Fernández-Hernández L., et al. | 2018 | BRAIN & DEVELOPMENT | WoS-id: 000440117700002
Scopus-id: 2-s2.0-85045936112
| 5 | 5 |
| 28 | Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants | Coautor: Angel Alcantara-Ortigoza, Miguel, 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 |
| 29 | 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 | Coautor: Alcántara-Ortigoza M., Rius R., González-del Angel A., Velázquez-Aragón J., et al. | 2018 | NEUROLOGY INDIA | WoS-id: 000447540700047
Scopus-id: 2-s2.0-85050650002
| 4 | 3 |
| 30 | Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients | Coautor: Alcántara-Ortigoza M.A., Hernández-Martínez N., González-del Angel A., González-Huerta L.M., et al. | 2018 | OPHTHALMIC GENETICS | WoS-id: 000451681700009
Scopus-id: 2-s2.0-85057282563
| 3 | 2 |
| 31 | Case reports and misdiagnosis of renal tubular acidosis | Coautor: Alcántara Ortigoza M.Á., Medeiros M., Enciso S., Hernández A.M., et al. | 2016 | Nefrologia | WoS-id: 000377099000021
Scopus-id: 2-s2.0-85044303151
| 1 | 1 |
| 32 | An uncommon inheritance pattern in Niemann-Pick disease type C: Identification of probable paternal germline mosaicism in a Mexican family | 2ᵒ autor: Alcántara-Ortigoza M.A., Cervera-Gaviria M., González-del Angel A., Moyers-Pérez P., et al. | 2016 | BMC NEUROLOGY | WoS-id: 000381826100001
Scopus-id: 2-s2.0-84983541853
| 5 | 8 |
| 33 | Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis | Coautor: Alcántara-Ortigoza M.A., González-del Angel A., Estandía-Ortega B., Martínez-Cruz V., et al. | 2016 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000388199100020
Scopus-id: 2-s2.0-84992093446
| 10 | 11 |
| 34 | Germinal mosaicism in a sample of families with duchenne/becker muscular dystrophy with Partial Deletions in the DMD Gene | Coautor: Alcántara-Ortigoza M.A., Bermúdez-López C., Teresa B.G.-D., Angel A.G.-D. | 2014 | GENETIC TESTING AND MOLECULAR BIOMARKERS | WoS-id: 000331388300006
Scopus-id: 2-s2.0-84893777347
| 16 | 19 |
| 35 | Successful stem cell transplantation in a child with chronic granulomatous disease associated with contiguous gene deletion syndrome and complicated by macrophage activation syndrome | Coautor: Alcántara-Ortigoza M.A., Scheffler-Mendoza S.C., Yamazaki-Nakashimada M.A., Olaya-Vargas A., et al. | 2014 | CLINICAL IMMUNOLOGY | WoS-id: 000341959300004
Scopus-id: 2-s2.0-84908373888
| 9 | 8 |
| 36 | CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis | 1ᵉʳ autor: Alcántara-Ortigoza M.A., Martínez-Bernal A.B., Belmont-Martínez L., Vela-Amieva M., et al. | 2013 | Journal Of Pediatric Genetics | Scopus-id: 2-s2.0-85013592356
| 0 | 4 |
| 37 | Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: Identification of the recurrent p.Arg31His mutation | 1ᵉʳ autor: Alcántara-Ortigoza M.A., González-del Angel A., Martínez-Cruz V., Vela-Amieva M., et al. | 2012 | CLINICAL ENDOCRINOLOGY | WoS-id: 000297739700024
Scopus-id: 2-s2.0-83455200241
| 7 | 5 |
| 38 | Phenotype?genotype discrepancy due to a 5.5-kb deletion in the GALT gene | Coautor: Alcántara-Ortigoza M.A., del Angel A.G., Velázquez-Aragón J., Vela-Amieva M., et al. | 2012 | Jimd Reports | WoS-id: 000301089700001
Scopus-id: 2-s2.0-85060691425
| 0 | 1 |
| 39 | Expression of RUNX1 isoforms and its target gene BLK in childhood acute lymphoblastic leukemia | 2ᵒ autor: Alcántara-Ortigoza M.A., Montero-Ruíz O., Betancourt M., Juárez-Velázquez R., et al. | 2012 | LEUKEMIA RESEARCH | WoS-id: 000306523600014
Scopus-id: 2-s2.0-84864000181
| 14 | 14 |
| 40 | Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3) | Coautor: Alcántara M.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 | 1ᵉʳ autor: Alcántara M.A., García-Cavazos R., Hernández-U E., González-del Angel A., et al. | 2001 | ANN GENET-PARIS | WoS-id: 000172053300008
Scopus-id: 2-s2.0-0034755465
| 9 | 15 |
| 42 | Localization of intranuclear RNA by electron microscopy in situ hybridization using a genomic DNA probe | Coautor: Alcantara-Ortigoza M.A., Lopez-Velazquez G., Segura-Valdez M.D.L., Jimenez-Garcia L.F. | 1998 | Archives Of Medical Research | WoS-id: 000074499700014
Scopus-id: 2-s2.0-0031833746
| 6 | 7 |
| 43 | Effects of prenatal administration of diazepam on the cerebral cortex of adult mice | Coautor y autor de correspondencia: Alcantara-Ortigoza M.A., Marquez-Orozco A., Marquez-Orozco M.C. | 1992 | Proceedings of the Western Pharmacology Society | Scopus-id: 2-s2.0-0026724984
| 0 | 3 |
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