Powell CM - Search Results

1

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Couser NL, Marchuk DS, Smith LD, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas-Calikoglu M, Powell CM. Couser NL, et al. Among authors: powell cm. Am J Med Genet A. 2017 Oct;173(10):2720-2724. doi: 10.1002/ajmg.a.38351. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28749033

2

Townes-Brocks syndrome.

Powell CM, Michaelis RC. Powell CM, et al. J Med Genet. 1999 Feb;36(2):89-93. J Med Genet. 1999. PMID: 10051003 Free PMC article. Review.

3

Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements.

Kaiser-Rogers KA, Rao KW, Michaelis RC, Lese CM, Powell CM. Kaiser-Rogers KA, et al. Among authors: powell cm. Am J Med Genet. 2000 Nov 6;95(1):28-35. doi: 10.1002/1096-8628(20001106)95:1<28::aid-ajmg7>3.0.co;2-c. Am J Med Genet. 2000. PMID: 11074491

4

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

Kranz C, Basinger AA, Güçsavaş-Calikoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH. Kranz C, et al. Among authors: powell cm. Am J Med Genet A. 2007 Jun 15;143A(12):1371-8. doi: 10.1002/ajmg.a.31791. Am J Med Genet A. 2007. PMID: 17506107

5

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM. Stamm DS, et al. Among authors: powell cm. Am J Med Genet A. 2008 Jul 15;146A(14):1832-41. doi: 10.1002/ajmg.a.32370. Am J Med Genet A. 2008. PMID: 18553514

6

Prenatal diagnosis of mosaic complete trisomy 1q.

Schmitt CL, Moldenhauer JS, Wolfe H, Kaiser-Rogers K, Powell CM. Schmitt CL, et al. Among authors: powell cm. Am J Med Genet A. 2009 Aug;149A(8):1801-5. doi: 10.1002/ajmg.a.32986. Am J Med Genet A. 2009. PMID: 19610082 No abstract available.

7

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. Couser NL, et al. Among authors: powell cm. Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29. Am J Med Genet A. 2015. PMID: 25920937 Free PMC article.

8

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA; National Birth Defects Prevention Network. Meyer RE, et al. Among authors: powell cm. Am J Med Genet A. 2016 Apr;170A(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10. Am J Med Genet A. 2016. PMID: 26663415 Free PMC article.

9

Cell-free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21.

Crooks K, Edwardsen G, O'Connor S, Powell C, Vargo D, Vora N, Kaiser-Rogers K. Crooks K, et al. Clin Case Rep. 2015 Nov 9;4(1):19-22. doi: 10.1002/ccr3.421. eCollection 2016 Jan. Clin Case Rep. 2015. PMID: 26783428 Free PMC article.

10

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM. Couser NL, et al. Among authors: powell cm. Am J Med Genet A. 2017 Apr;173(4):1097-1101. doi: 10.1002/ajmg.a.38141. Epub 2017 Feb 9. Am J Med Genet A. 2017. PMID: 28181399

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