Starr LJ - Search Results

1

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Starr LJ, Lindsay ME, Lino Cardenas CL, Yetman AT. Starr LJ, et al. Am J Med Genet A. 2023 Mar;191(3):786-793. doi: 10.1002/ajmg.a.63075. Epub 2022 Dec 30. Am J Med Genet A. 2023. PMID: 36584339

2

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. 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

3

Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.

Yetman AT, Starr LJ. Yetman AT, et al. Among authors: starr lj. Am J Med Genet A. 2018 Apr;176(4):1011-1014. doi: 10.1002/ajmg.a.38647. Am J Med Genet A. 2018. PMID: 29575632

4

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.

Starr LJ, Spranger JW, Rao VK, Lutz R, Yetman AT. Starr LJ, et al. Am J Med Genet A. 2019 Jul;179(7):1270-1275. doi: 10.1002/ajmg.a.61185. Epub 2019 May 30. Am J Med Genet A. 2019. PMID: 31148362

5

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: starr lj. 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

6

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Lin AE, et al. Among authors: starr lj. Am J Med Genet A. 2020 Feb;182(2):328-337. doi: 10.1002/ajmg.a.61430. Epub 2019 Dec 14. Am J Med Genet A. 2020. PMID: 31837202

7

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: starr lj. Clin Dysmorphol. 2020 Jul;29(3):132-136. doi: 10.1097/MCD.0000000000000320. Clin Dysmorphol. 2020. PMID: 32141891 No abstract available.

8

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

9

Utilization of echocardiography in Ehlers-Danlos syndrome.

Rauser-Foltz KK, Starr LJ, Yetman AT. Rauser-Foltz KK, et al. Among authors: starr lj. Congenit Heart Dis. 2019 Sep;14(5):864-867. doi: 10.1111/chd.12824. Epub 2019 Jul 22. Congenit Heart Dis. 2019. PMID: 31328377

10

Vascular dissection in women with Turner syndrome.

Yetman AT, Bisselou KSM, Sanmann JN, Katz RJ, Steingraeber CJ, Wilde M, Murray M, Starr LJ. Yetman AT, et al. Among authors: starr lj. Int J Cardiol. 2021 Feb 15;325:127-131. doi: 10.1016/j.ijcard.2020.10.009. Epub 2020 Oct 9. Int J Cardiol. 2021. PMID: 33045278

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