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Items: 1 to 20 of 24

1.

PRKAG2 mutations presenting in infancy.

Torok RD, Austin SL, Phornphutkul C, Rotondo KM, Bali D, Tatum GH, Wechsler SB, Buckley AF, Kishnani PS.

J Inherit Metab Dis. 2017 Aug 11. doi: 10.1007/s10545-017-0072-0. [Epub ahead of print]

PMID:
28801758
2.

Adrenergic receptor genotypes influence postoperative outcomes in infants in the Single-Ventricle Reconstruction Trial.

Ramroop R, Manase G, Lu D, Manase D, Chen S, Kim R, Lee T, Mahle WT, McHugh K, Mitchell M, Tristani-Firouzi M, Wechsler SB, Wilder NS, Zak V, Lafreniere-Roula M, Newburger JW, Gaynor JW, Russell MW, Mital S.

J Thorac Cardiovasc Surg. 2017 Jun 24. pii: S0022-5223(17)31360-0. doi: 10.1016/j.jtcvs.2017.06.041. [Epub ahead of print]

3.

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ.

Am J Med Genet A. 2017 May;173(5):1219-1225. doi: 10.1002/ajmg.a.38144. Epub 2017 Mar 20.

PMID:
28317311
4.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V.

Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.

5.

Complex Chronic Conditions Among Children Undergoing Cardiac Surgery.

Chan T, Di Gennaro J, Wechsler SB, Bratton SL.

Pediatr Cardiol. 2016 Aug;37(6):1046-56. doi: 10.1007/s00246-016-1387-6. Epub 2016 Mar 31.

PMID:
27033243
6.

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK.

Neurogenetics. 2016 Jul;17(3):159-64. doi: 10.1007/s10048-016-0479-z. Epub 2016 Mar 22.

7.

Adult surgical experience with Loeys-Dietz syndrome.

Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, Wechsler SB, Zomorodi A, McCann RL, Hughes GC.

Ann Thorac Surg. 2015 Apr;99(4):1275-81. doi: 10.1016/j.athoracsur.2014.11.021. Epub 2015 Feb 10.

PMID:
25678502
8.

Atenolol versus losartan in children and young adults with Marfan's syndrome.

Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators.

N Engl J Med. 2014 Nov 27;371(22):2061-71. doi: 10.1056/NEJMoa1404731. Epub 2014 Nov 18.

9.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.

Genet Med. 2014 Nov;16(11):e1.

PMID:
25356975
10.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.

Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.

11.

Factors associated with neurodevelopment for children with single ventricle lesions.

Goldberg CS, Lu M, Sleeper LA, Mahle WT, Gaynor JW, Williams IA, Mussatto KA, Ohye RG, Graham EM, Frank DU, Jacobs JP, Krawczeski C, Lambert L, Lewis A, Pemberton VL, Sananes R, Sood E, Wechsler SB, Bellinger DC, Newburger JW; Pediatric Heart Network Investigators.

J Pediatr. 2014 Sep;165(3):490-496.e8. doi: 10.1016/j.jpeds.2014.05.019. Epub 2014 Jun 19.

12.

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.

Lacro RV, Guey LT, Dietz HC, Pearson GD, Yetman AT, Gelb BD, Loeys BL, Benson DW, Bradley TJ, De Backer J, Forbus GA, Klein GL, Lai WW, Levine JC, Lewin MB, Markham LW, Paridon SM, Pierpont ME, Radojewski E, Selamet Tierney ES, Sharkey AM, Wechsler SB, Mahony L; Pediatric Heart Network Investigators.

Am Heart J. 2013 May;165(5):828-835.e3. doi: 10.1016/j.ahj.2013.02.019. Epub 2013 Mar 26.

13.

Cardiac Pathology in Glycogen Storage Disease Type III.

Austin SL, Proia AD, Spencer-Manzon MJ, Butany J, Wechsler SB, Kishnani PS.

JIMD Rep. 2012;6:65-72. doi: 10.1007/8904_2011_118. Epub 2012 Jan 31.

14.

Glycogen storage disease type III diagnosis and management guidelines.

Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG.

Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Erratum in: Genet Med. 2010 Sep;12(9):566.

PMID:
20631546
15.

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.

Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, Kishnani PS, Wechsler SB.

Genet Med. 2010 Jul;12(7):413-23. doi: 10.1097/GIM.0b013e3181e0e979.

16.

Two-stage total aortic replacement for Loeys-Dietz syndrome.

Williams ML, Wechsler SB, Hughes GC.

J Card Surg. 2010 Mar;25(2):223-4. doi: 10.1111/j.1540-8191.2009.00956.x.

PMID:
20492031
17.

Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm.

Andersen ND, Dubose J, Shah A, Lee T, Wechsler SB, Hughes GC.

J Vasc Surg. 2010 Feb;51(2):468-70. doi: 10.1016/j.jvs.2009.08.058.

18.

Two-Stage Total Aortic Replacement for Loeys-Dietz Syndrome.

Williams ML, Wechsler SB, Hughes GC.

J Card Surg. 2010 Jan 7. [Epub ahead of print]

PMID:
20070434
19.

Hemolytic anemia secondary to modified blalock-taussig shunt.

Ryerson LM, Wechsler SB, Ohye RG.

Pediatr Cardiol. 2007 May-Jun;28(3):238-40. Epub 2007 Apr 13.

PMID:
17437150
20.

Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM.

Pediatr Cardiol. 2005 Sep-Oct;26(5):632-7.

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