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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067909 Free PMC article.
Determination and stability of gonadal sex.
Schlessinger D, Garcia-Ortiz JE, Forabosco A, Uda M, Crisponi L, Pelosi E. Schlessinger D, et al. J Androl. 2010 Jan-Feb;31(1):16-25. doi: 10.2164/jandrol.109.008201. Epub 2009 Oct 29. J Androl. 2010. PMID: 19875493 Free PMC article. Review.
Pharmacogenetics: ethnicity, treatment and health in Latin American populations.
Sosa-Macías M, Fricke-Galindo I, Fariñas H, Monterde L, Ruiz-Cruz ED, Molina-Guarneros J, Tarazona-Santos E, Rodrigues-Soares F, Galaviz-Hernández C, Peñas-Lledó E, Moya G, Lara-Riegos J, Terán E, Hernández I, Ramírez-Roa R, Altamirano-Tinoco C, López-López M, García-Ortiz JE, LLerena A. Sosa-Macías M, et al. Among authors: garcia ortiz je. Pharmacogenomics. 2023 Jun;24(9):489-492. doi: 10.2217/pgs-2023-0098. Epub 2023 Aug 2. Pharmacogenomics. 2023. PMID: 37529900
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. Nat Genet. 2017. PMID: 28546579 No abstract available.
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Córdova-Fletes C, Becerra-Solano LE, Rangel-Sosa MM, Rivas-Estilla AM, Alberto Galán-Huerta K, Ortiz-López R, Rojas-Martínez A, Juárez-Vázquez CI, García-Ortiz JE. Córdova-Fletes C, et al. Eur J Med Genet. 2018 Mar;61(3):161-167. doi: 10.1016/j.ejmg.2017.11.011. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174089
Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, Rivera H, Jave-Suárez L, Aguilar-Lemarroy A, Torres-Reyes LA, Córdova-Fletes C, Barros-Núñez P, Delgadillo-Pérez S, Dávalos-Rodríguez IP, García-Ortiz JE, Domínguez MG. Ramírez-Velazco A, et al. J Genet. 2019 Jun;98(2):34. J Genet. 2019. PMID: 31204697 Free article.
61 results