Sanmann JN - Search Results

1

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

Sanmann JN, Casas KA, Bevilacqua J, Bishay DL, Clark T, Van Dyke AZ, Leiferman PC, Reddi HV, Starr LJ. Sanmann JN, et al. Am J Med Genet A. 2016 Sep;170(9):2416-20. doi: 10.1002/ajmg.a.37797. Epub 2016 Jun 23. Am J Med Genet A. 2016. PMID: 27338032 Review.

2

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG. Sanmann JN, et al. Am J Med Genet A. 2012 Jun;158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581587

3

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.

Starr LJ, Sanmann JN, Olney AH, Wandoloski M, Sanger WG, Coulter DW. Starr LJ, et al. Among authors: sanmann jn. Am J Med Genet A. 2014 Apr;164A(4):1079-82. doi: 10.1002/ajmg.a.36432. Epub 2014 Mar 4. Am J Med Genet A. 2014. PMID: 24596125

4

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray.

Sanmann JN, Pickering DL, Golden DM, Stevens JM, Hempel TE, Althof PA, Wiggins ML, Starr LJ, Davé BJ, Sanger WG. Sanmann JN, et al. Genet Med. 2015 Nov;17(11):875-9. doi: 10.1038/gim.2014.204. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590977 Free article.

5

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA, Schaefer GB, Olney AH. Starr LJ, et al. Among authors: sanmann jn. Am J Med Genet A. 2015 Dec;167A(12):2893-901. doi: 10.1002/ajmg.a.37273. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420300

6

First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa.

Khazanchi R, Yetman AT, Sanmann JN, Starr LJ. Khazanchi R, et al. Among authors: sanmann jn. Clin Dysmorphol. 2020 Jul;29(3):132-136. doi: 10.1097/MCD.0000000000000320. Clin Dysmorphol. 2020. PMID: 32141891 No abstract available.

7

Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.

Yetman AT, Hammel J, Sanmann JN, Starr LJ. Yetman AT, et al. Among authors: sanmann jn. World J Pediatr Congenit Heart Surg. 2019 May;10(3):376-379. doi: 10.1177/2150135117698458. Epub 2017 Jul 4. World J Pediatr Congenit Heart Surg. 2019. PMID: 28673110

8

The QT Interval in Patients With the Turner Syndrome.

Harrahill NJ, Yetman AT, Danford DA, Starr LJ, Sanmann JN, Robinson JA. Harrahill NJ, et al. Among authors: sanmann jn. Am J Cardiol. 2021 Feb 1;140:118-121. doi: 10.1016/j.amjcard.2020.09.061. Epub 2020 Nov 2. Am J Cardiol. 2021. PMID: 33144168

9

Clinical and Echocardiographic Prevalence and Detection of Congenital and Acquired Cardiac Abnormalities in Girls and Women with the Turner Syndrome.

Yetman AT, Starr L, Sanmann J, Wilde M, Murray M, Cramer JW. Yetman AT, et al. Am J Cardiol. 2018 Jul 15;122(2):327-330. doi: 10.1016/j.amjcard.2018.03.357. Epub 2018 Apr 17. Am J Cardiol. 2018. PMID: 29731120

10

Searching for electrical properties, phenomena and mechanisms in the construction and function of chromosomes.

Kanev I, Mei WN, Mizuno A, Dehaai K, Sanmann J, Hess M, Starr L, Grove J, Dave B, Sanger W. Kanev I, et al. Comput Struct Biotechnol J. 2013 Jun 27;6:e201303007. doi: 10.5936/csbj.201303007. eCollection 2013. Comput Struct Biotechnol J. 2013. PMID: 24688715 Free PMC article.

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