Tise CG - Search Results

1

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.

Gates RW, Webb BD, Stevenson DA, Jabs EW, DeFilippo C, Ruzhnikov MRZ, Tise CG. Gates RW, et al. Among authors: tise cg. Am J Med Genet A. 2023 Nov;191(11):2743-2748. doi: 10.1002/ajmg.a.63389. Epub 2023 Sep 7. Am J Med Genet A. 2023. PMID: 37675855

2

Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.

Tise CG, Morales JA, Lee AS, Velez-Bartolomei F, Floyd BJ, Levy RJ, Cusmano-Ozog KP, Feigenbaum AS, Ruzhnikov MRZ, Lee CU, Enns GM. Tise CG, et al. Am J Med Genet A. 2021 Jun;185(6):1848-1853. doi: 10.1002/ajmg.a.62160. Epub 2021 Mar 8. Am J Med Genet A. 2021. PMID: 33683010

3

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.

Galarreta CI, Wong K, Carmichael J, Woods J, Tise CG, Niehaus AD, Schildt AJ, Verscaj CP, Cusmano-Ozog KP. Galarreta CI, et al. Among authors: tise cg. Am J Med Genet A. 2023 Aug;191(8):2057-2063. doi: 10.1002/ajmg.a.63234. Epub 2023 May 5. Am J Med Genet A. 2023. PMID: 37144748

4

Medical genetics training in the COVID-19 era: A resident's perspective.

Tise CG. Tise CG. Am J Med Genet A. 2021 Oct;185(10):2861-2862. doi: 10.1002/ajmg.a.62379. Epub 2021 Jun 7. Am J Med Genet A. 2021. PMID: 34096675 Free PMC article. No abstract available.

5

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.

Niehaus AD, Mendelsohn BA, Zimmerman B, Lee CU, Manning MA, Cusmano-Ozog KP, Tise CG. Niehaus AD, et al. Among authors: tise cg. Am J Med Genet A. 2023 May;191(5):1412-1417. doi: 10.1002/ajmg.a.63144. Epub 2023 Mar 2. Am J Med Genet A. 2023. PMID: 36863699

6

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

Tise CG, Verscaj CP, Mendelsohn BA, Woods J, Lee CU, Enns GM, Stander Z, Hall PL, Cowan TM, Cusmano-Ozog KP. Tise CG, et al. Am J Med Genet A. 2023 Jun;191(6):1492-1501. doi: 10.1002/ajmg.a.63159. Epub 2023 Mar 8. Am J Med Genet A. 2023. PMID: 36883293

7

Genetics of recurrent pregnancy loss: a review.

Tise CG, Byers HM. Tise CG, et al. Curr Opin Obstet Gynecol. 2021 Apr 1;33(2):106-111. doi: 10.1097/GCO.0000000000000695. Curr Opin Obstet Gynecol. 2021. PMID: 33605623 Review.

8

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

Tise CG, Matalon DR, Manning MA, Byers HM, Grover M. Tise CG, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221101844. doi: 10.1177/23247096221101844. J Investig Med High Impact Case Rep. 2022. PMID: 35638718 Free PMC article.

9

Case 1: Rapidly Rising Bilirubin Level in a 3-day-old Term Infant.

Tise CG, Joshi NS, Erice-Taganas AD, Blecharczyk EM. Tise CG, et al. Neoreviews. 2020 Oct;21(10):e687-e690. doi: 10.1542/neo.21-10-e687. Neoreviews. 2020. PMID: 33004562 No abstract available.

10

Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation.

Cusmano-Ozog KP, Renck AK, Tise CG. Cusmano-Ozog KP, et al. Among authors: tise cg. JIMD Rep. 2022 Oct 13;63(6):563-567. doi: 10.1002/jmd2.12328. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341162 Free PMC article.

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