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Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7. Eur J Hum Genet. 2012. PMID: 21897445 Free PMC article.
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
Vieira GH, Rodriguez JD, Boy R, de Paiva IS, DuPont BR, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Am J Med Genet A. 2011 May;155A(5):988-92. doi: 10.1002/ajmg.a.33960. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480478 No abstract available.
Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.
Vieira GH, Cook MM, Ferreira De Lima RL, Frigério Domingues CE, de Carvalho DR, Soares de Paiva I, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Mol Syndromol. 2015 Feb;6(1):32-8. doi: 10.1159/000370169. Epub 2015 Jan 21. Mol Syndromol. 2015. PMID: 25852445 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: moretti ferreira d. 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.
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Prontera P, Rogaia D, Sallicandro E, Mencarelli A, Imperatore V, Squeo GM, Merla G, Elisei S, Moretti-Ferreira D, Esposito S, Stangoni G. Prontera P, et al. Among authors: moretti ferreira d. Eur J Hum Genet. 2019 Aug;27(8):1260-1266. doi: 10.1038/s41431-019-0385-6. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936464 Free PMC article.
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Among authors: moretti ferreira d. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
42 results