Aylsworth AS - Search Results

1

Genetics of hemangiomas, vascular malformations, and primary lymphedema.

Blatt J, Powell CM, Burkhart CN, Stavas J, Aylsworth AS. Blatt J, et al. Among authors: aylsworth as. J Pediatr Hematol Oncol. 2014 Nov;36(8):587-93. doi: 10.1097/MPH.0000000000000260. J Pediatr Hematol Oncol. 2014. PMID: 25222064 Review.

2

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: aylsworth as. 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

3

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Milko LV, O'Daniel JM, DeCristo DM, Crowley SB, Foreman AKM, Wallace KE, Mollison LF, Strande NT, Girnary ZS, Boshe LJ, Aylsworth AS, Gucsavas-Calikoglu M, Frazier DM, Vora NL, Roche MI, Powell BC, Powell CM, Berg JS. Milko LV, et al. Among authors: aylsworth as. J Pediatr. 2019 Jun;209:68-76. doi: 10.1016/j.jpeds.2018.12.027. Epub 2019 Mar 7. J Pediatr. 2019. PMID: 30851990 Free PMC article.

4

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: aylsworth as. 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

5

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: aylsworth as. 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.

6

Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards.

Scanga L, Chaing S, Powell C, Aylsworth AS, Harrell LJ, Henshaw NG, Civalier CJ, Thorne LB, Weck K, Booker J, Gulley ML. Scanga L, et al. Among authors: aylsworth as. J Mol Diagn. 2006 May;8(2):240-5. doi: 10.2353/jmoldx.2006.050075. J Mol Diagn. 2006. PMID: 16645211 Free PMC article.

7

Genetic studies of autistic disorder and chromosome 7.

Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh MB, Aylsworth AS, Vance JM, Gilbert JR, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA. Ashley-Koch A, et al. Among authors: aylsworth as. Genomics. 1999 Nov 1;61(3):227-36. doi: 10.1006/geno.1999.5968. Genomics. 1999. PMID: 10552924

8

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC. Stamm DS, et al. Among authors: aylsworth as. Neurology. 2008 Nov 25;71(22):1764-9. doi: 10.1212/01.wnl.0000325060.16532.40. Epub 2008 Oct 8. Neurology. 2008. PMID: 18843099

9

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: aylsworth as. 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

10

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG. Rosenfeld JA, et al. Among authors: aylsworth as. Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5. Neurogenetics. 2012. PMID: 22218741

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

119 results

Search Page

Filters