Yang AC - Search Results

1

Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?

Gujral J, Yau M, Yang AC, Kastury R, Romero CJ, Wallach E, Wilkes M, Costin G, Rapaport R. Gujral J, et al. Among authors: yang ac. J Endocr Soc. 2019 Feb 20;3(4):838-846. doi: 10.1210/js.2018-00386. eCollection 2019 Apr 1. J Endocr Soc. 2019. PMID: 30963141 Free PMC article.

2

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S, Farrell C, Edelmann LJ, Buxbaum JD. Kolevzon A, et al. J Neurodev Disord. 2014;6(1):39. doi: 10.1186/1866-1955-6-39. Epub 2014 Oct 8. J Neurodev Disord. 2014. PMID: 25784960 Free PMC article. Review.

3

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

Yang AC, Bier L, Overbey JR, Cohen-Pfeffer J, Desai K, Desnick RJ, Balwani M. Yang AC, et al. Genet Med. 2017 Jun;19(6):652-658. doi: 10.1038/gim.2016.159. Epub 2016 Oct 13. Genet Med. 2017. PMID: 27735925 Free article.

4

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

Karger L, Khan WA, Calabio R, Singh R, Xiang B, Babu A, Cohen N, Yang AC, Scott SA. Karger L, et al. Among authors: yang ac. Am J Med Genet A. 2017 May;173(5):1436-1439. doi: 10.1002/ajmg.a.38154. Epub 2017 Mar 20. Am J Med Genet A. 2017. PMID: 28317263 Free PMC article. No abstract available.

5

Myoclonus in ataxia-telangiectasia.

Termsarasab P, Yang AC, Frucht SJ. Termsarasab P, et al. Among authors: yang ac. Tremor Other Hyperkinet Mov (N Y). 2015 Mar 13;5:298. doi: 10.7916/D88P5Z9X. eCollection 2015. Tremor Other Hyperkinet Mov (N Y). 2015. PMID: 25793145 Free PMC article.

6

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

Termsarasab P, Yang AC, Frucht SJ. Termsarasab P, et al. Among authors: yang ac. Tremor Other Hyperkinet Mov (N Y). 2015 Sep 16;5:336. doi: 10.7916/D8MG7NS8. eCollection 2015. Tremor Other Hyperkinet Mov (N Y). 2015. PMID: 26417536 Free PMC article.

7

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. Yang AC, et al. Mol Genet Metab. 2013 Nov;110(3):345-351. doi: 10.1016/j.ymgme.2013.06.016. Epub 2013 Jun 28. Mol Genet Metab. 2013. PMID: 23856421 Free PMC article.

8

Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

Termsarasab P, Yang AC, Reiner J, Mei H, Scott SA, Frucht SJ. Termsarasab P, et al. Among authors: yang ac. Tremor Other Hyperkinet Mov (N Y). 2014 Nov 17;4:274. doi: 10.7916/D8N58K0Q. eCollection 2014. Tremor Other Hyperkinet Mov (N Y). 2014. PMID: 25667815 Free PMC article.

9

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang AT, Cai G, Parkhomenko E, Halpern D, Grodberg D, Angarita B, Willner JP, Yang A, Canitano R, Chaplin W, Betancur C, Buxbaum JD. Soorya L, et al. Mol Autism. 2013 Jun 11;4(1):18. doi: 10.1186/2040-2392-4-18. Mol Autism. 2013. PMID: 23758760 Free PMC article.

10

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: yang ac. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.

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