Aylsworth AS - Search Results

1

A novel STXBP1 mutation causes focal seizures with neonatal onset.

Vatta M, Tennison MB, Aylsworth AS, Turcott CM, Guerra MP, Eng CM, Yang Y. Vatta M, et al. Among authors: aylsworth as. J Child Neurol. 2012 Jun;27(6):811-4. doi: 10.1177/0883073811435246. J Child Neurol. 2012. PMID: 22596016

2

Similarities of EEG and seizures in del(1q) and benign rolandic epilepsy.

Vaughn BV, Greenwood RS, Aylsworth AS, Tennison MB. Vaughn BV, et al. Among authors: aylsworth as. Pediatr Neurol. 1996 Oct;15(3):261-4. doi: 10.1016/s0887-8994(96)00175-0. Pediatr Neurol. 1996. PMID: 8916169 Review.

3

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

4

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. Montgomery ND, et al. Among authors: aylsworth as. Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239541

5

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.

Albright SG, Lachiewicz AM, Tarleton JC, Rao KW, Schwartz CE, Richie R, Tennison MB, Aylsworth AS. Albright SG, et al. Among authors: aylsworth as. Am J Med Genet. 1994 Jul 15;51(4):294-7. doi: 10.1002/ajmg.1320510403. Am J Med Genet. 1994. PMID: 7942990

6

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

7

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. Zak J, et al. Among authors: aylsworth as. Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22. Cell Death Differ. 2016. PMID: 27447114 Free PMC article.

8

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

9

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.

10

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA. Bellus GA, et al. Among authors: aylsworth as. Nat Genet. 1995 Jul;10(3):357-9. doi: 10.1038/ng0795-357. Nat Genet. 1995. PMID: 7670477

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