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Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. Corzo D, et al. Am J Hum Genet. 2002 Jun;70(6):1520-31. doi: 10.1086/340849. Epub 2002 Apr 29. Am J Hum Genet. 2002. PMID: 11992258 Free PMC article.
Sibling phenotype concordance in classical infantile Pompe disease.
Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS. Smith WE, et al. Among authors: corzo d. Am J Med Genet A. 2007 Nov 1;143A(21):2493-501. doi: 10.1002/ajmg.a.31936. Am J Med Genet A. 2007. PMID: 17853454 Review.
Identification of critical regions for clinical features of distal 10q deletion syndrome.
Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Yatsenko SA, et al. Among authors: corzo d. Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x. Epub 2009 Jun 22. Clin Genet. 2009. PMID: 19558528 Free article.
Clinical genetic testing for patients with autism spectrum disorders.
Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Shen Y, et al. Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15. Pediatrics. 2010. PMID: 20231187 Free PMC article.
Fractures in children with Pompe disease: a potential long-term complication.
Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS. Case LE, et al. Among authors: corzo d. Pediatr Radiol. 2007 May;37(5):437-45. doi: 10.1007/s00247-007-0428-y. Epub 2007 Mar 7. Pediatr Radiol. 2007. PMID: 17342521
43 results