PubMed for Bookshelf ID: 3300482

Year	Number of Results
1983	1
1988	1
1991	1
1993	1
1994	2
1995	1
1996	1
1997	3
1998	2
1999	1
2001	1
2002	2
2003	1
2005	4
2006	5
2007	7
2008	2
2009	3
2010	3
2011	4
2012	6
2013	6
2014	3
2015	2
2016	5
2017	1
2018	1
2019	5
2020	3
2022	1
2024	0

1

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

2

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

3

A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population.

Miller PC, Ren M, Schlame M, Toth MJ, Phoon CKL. Miller PC, et al. J Pediatr. 2020 Feb;217:139-144. doi: 10.1016/j.jpeds.2019.09.074. Epub 2019 Nov 12. J Pediatr. 2020. PMID: 31732128

4

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C. Baban A, et al. Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729175

5

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.

Mazar I, Stokes J, Ollis S, Love E, Espensen A, Barth PG, Powers JH 3rd, Shields AL. Mazar I, et al. Orphanet J Rare Dis. 2019 Nov 7;14(1):243. doi: 10.1186/s13023-019-1200-8. Orphanet J Rare Dis. 2019. PMID: 31699126 Free PMC article.

6

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.

Hornby B, McClellan R, Buckley L, Carson K, Gooding T, Vernon HJ. Hornby B, et al. Orphanet J Rare Dis. 2019 Jan 22;14(1):37. doi: 10.1186/s13023-019-1006-8. Orphanet J Rare Dis. 2019. PMID: 30744648 Free PMC article.

7

Neutropenia in Barth syndrome: characteristics, risks, and management.

Steward CG, Groves SJ, Taylor CT, Maisenbacher MK, Versluys B, Newbury-Ecob RA, Ozsahin H, Damin MK, Bowen VM, McCurdy KR, Mackey MC, Bolyard AA, Dale DC. Steward CG, et al. Curr Opin Hematol. 2019 Jan;26(1):6-15. doi: 10.1097/MOH.0000000000000472. Curr Opin Hematol. 2019. PMID: 30451719 Free PMC article. Clinical Trial.

8

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

Avdjieva-Tzavella DM, Todorova AP, Kathom H M, Ivanova MB, Yordanova IT, Todorov TP, Litvinenko IO, Dasheva-Dimitrova AT, Tincheva RS. Avdjieva-Tzavella DM, et al. Genet Couns. 2016;27(4):495-501. Genet Couns. 2016. PMID: 30226969

9

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.

Kovacs-Nagy R, Morin G, Nouri MA, Brandau O, Saadi NW, Nouri MA, van den Broek F, Prokisch H, Mayr JA, Wortmann SB. Kovacs-Nagy R, et al. Neuropediatrics. 2018 Dec;49(6):373-378. doi: 10.1055/s-0038-1667345. Epub 2018 Aug 16. Neuropediatrics. 2018. PMID: 30114719

10

2017 ACC/AHA/HFSA Focused Update of the 2013 ACCF/AHA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Failure Society of America.

Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE Jr, Colvin MM, Drazner MH, Filippatos GS, Fonarow GC, Givertz MM, Hollenberg SM, Lindenfeld J, Masoudi FA, McBride PE, Peterson PN, Stevenson LW, Westlake C. Yancy CW, et al. J Card Fail. 2017 Aug;23(8):628-651. doi: 10.1016/j.cardfail.2017.04.014. Epub 2017 Apr 28. J Card Fail. 2017. PMID: 28461259 Review. No abstract available.

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 NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

71 results

Results by year