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Page 1
22q11.2 deletion syndrome in diverse populations.
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199. Am J Med Genet A. 2017. PMID: 28328118 Free PMC article.
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Francese-Santos AP, Meinel JA, Piveta CSC, Andrade JGR, Barros BA, Fabbri-Scallet H, Gil-da-Silva-Lopes VL, Guerra-Junior G, Künstner A, Busch H, Hiort O, de Mello MP, Werner R, Maciel-Guerra AT. Francese-Santos AP, et al. Int J Mol Sci. 2022 Dec 28;24(1):494. doi: 10.3390/ijms24010494. Int J Mol Sci. 2022. PMID: 36613932 Free PMC article.
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21. Am J Med Genet A. 2011. PMID: 21948691 Free PMC article.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Monteiro FP, Vieira TP, Sgardioli IC, Molck MC, Damiano AP, Souza J, Monlleó IL, Fontes MI, Fett-Conte AC, Félix TM, Leal GF, Ribeiro EM, Banzato CE, Dantas Cde R, Lopes-Cendes I, Gil-da-Silva-Lopes VL. Monteiro FP, et al. Eur J Pediatr. 2013 Jul;172(7):927-45. doi: 10.1007/s00431-013-1964-0. Epub 2013 Feb 26. Eur J Pediatr. 2013. PMID: 23440478
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI. Guilherme RS, et al. Am J Med Genet A. 2014 Jul;164A(7):1659-65. doi: 10.1002/ajmg.a.36512. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700634 Review.
103 results