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TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.
Reyna-Fabián ME, Alcántara-Ortigoza MA, Hernández-Martínez NL, Berumen J, Jiménez-García R, Gómez-Garza G, González-Del Angel A. Reyna-Fabián ME, et al. Nefrologia (Engl Ed). 2020 Jan-Feb;40(1):91-98. doi: 10.1016/j.nefro.2019.03.003. Epub 2019 Jun 5. Nefrologia (Engl Ed). 2020. PMID: 31176519 Free article. English, Spanish.
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME, Hernández-Martínez NL, Alcántara-Ortigoza MA, Ayala-Sumuano JT, Enríquez-Flores S, Velázquez-Aragón JA, Varela-Echavarría A, Todd-Quiñones CG, González-Del Angel A. Reyna-Fabián ME, et al. Sci Rep. 2020 Apr 20;10(1):6589. doi: 10.1038/s41598-020-62759-5. Sci Rep. 2020. PMID: 32313033 Free PMC article.
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.
Alcántara-Ortigoza MA, Sánchez-Verdiguel I, Fernández-Hernández L, Enríquez-Flores S, González-Núñez A, Hernández-Martínez NL, Sánchez C, González-Del Angel A. Alcántara-Ortigoza MA, et al. Children (Basel). 2021 May 30;8(6):457. doi: 10.3390/children8060457. Children (Basel). 2021. PMID: 34070861 Free PMC article.
Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?
Apam-Garduño D, Cazarín-Barrientos J, Hernández-Martínez NL, Reyna-Fabián ME, Magaña M, Alcántara-Ortigoza MA, González-Del Angel A, Rivera-Vega MR. Apam-Garduño D, et al. Among authors: alcantara ortigoza ma. J Cutan Pathol. 2023 Jun;50(6):481-486. doi: 10.1111/cup.14340. Epub 2022 Nov 23. J Cutan Pathol. 2023. PMID: 36229934
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Fernández-Hernández L, Reyna-Fabián ME, Alcántara-Ortigoza MA, Aláez-Verson C, Flores-Lagunes LL, Carrillo-Sánchez K, González-Del Angel A. Fernández-Hernández L, et al. Among authors: alcantara ortigoza ma. Diagnostics (Basel). 2022 May 19;12(5):1268. doi: 10.3390/diagnostics12051268. Diagnostics (Basel). 2022. PMID: 35626423 Free PMC article.
62 results