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Page 1
Noonan syndrome in diverse populations.
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748642 Free PMC article.
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.
Poterico JA, Vásquez F, Chávez-Pastor M, Trubnykova M, Chavesta F, Chirinos J, Salcedo N, Mena R, Cubas S, González R, Alvariño R, Abarca-Barriga H. Poterico JA, et al. J Pediatr Genet. 2017 Dec;6(4):258-266. doi: 10.1055/s-0037-1604099. Epub 2017 Jul 6. J Pediatr Genet. 2017. PMID: 29142771 Free PMC article.
Williams-Beuren syndrome in diverse populations.
Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Kruszka P, et al. Among authors: abarca barriga hh. Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672. Am J Med Genet A. 2018. PMID: 29681090 Free PMC article.
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
Abarca Barriga HH, Caballero N, Trubnykova M, Castro-Mujica MDC, La Serna-Infantes JE, Vásquez F, Hennekam RC. Abarca Barriga HH, et al. Am J Med Genet A. 2018 Nov;176(11):2494-2500. doi: 10.1002/ajmg.a.40508. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194805
High prevalence of congenital generalized lipodystrophy in Piura, Peru.
Purizaca-Rosillo ND, Benites-Cóndor YE, Abarca Barriga H, Del Águila Villar C, Chávez Pastor M, Franco Palacios L, Olea Zapata R, Rejas Parodi J, Martinez Uceda L, Chavesta Velásquez F, Gamarra Vilela J, Arámbulo Castillo S, Ávila Reyes A. Purizaca-Rosillo ND, et al. Intractable Rare Dis Res. 2020 Feb;9(1):58-60. doi: 10.5582/irdr.2020.01004. Intractable Rare Dis Res. 2020. PMID: 32201678 Free PMC article.
[H syndrome: First reported paediatric case in Latin America].
Abarca Barriga HH, Trubnykova M, Polar Córdoba V, Ramos Diaz KJ, Aviles Alfaro N. Abarca Barriga HH, et al. Rev Chil Pediatr. 2016 Nov-Dec;87(6):494-499. doi: 10.1016/j.rchipe.2016.03.006. Epub 2016 Apr 30. Rev Chil Pediatr. 2016. PMID: 27143505 Free article. Spanish.
19 results