Gropman A - Search Results

1

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Vanderver A, et al. Among authors: gropman a. Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375884 Free PMC article.

2

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M; Urea Cycle Disorders Consortium. Gropman AL, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. doi: 10.1016/j.ymgme.2008.06.003. Epub 2008 Jul 26. Mol Genet Metab. 2008. PMID: 18662894 Free PMC article.

3

Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency.

Gropman AL, Gertz B, Shattuck K, Kahn IL, Seltzer R, Krivitsky L, Van Meter J. Gropman AL, et al. AJNR Am J Neuroradiol. 2010 Oct;31(9):1719-23. doi: 10.3174/ajnr.A2122. Epub 2010 May 20. AJNR Am J Neuroradiol. 2010. PMID: 20488904 Free PMC article.

4

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Lee RW, Conley SK, Gropman A, Porter FD, Baker EH. Lee RW, et al. Among authors: gropman a. Am J Med Genet A. 2013 Oct;161A(10):2407-19. doi: 10.1002/ajmg.a.36096. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918729 Free PMC article.

5

Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).

Tran SL, Samango-Sprouse CA, Sadeghin T, Powell S, Gropman AL. Tran SL, et al. Among authors: gropman al. Am J Med Genet A. 2019 Dec;179(12):2374-2381. doi: 10.1002/ajmg.a.61360. Epub 2019 Oct 2. Am J Med Genet A. 2019. PMID: 31577063

6

Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy.

Samango-Sprouse CA, Tran SL, Lasutschinkow PC, Sadeghin T, Powell S, Mitchell FL, Gropman A. Samango-Sprouse CA, et al. Among authors: gropman a. Am J Med Genet A. 2020 Aug;182(8):1881-1889. doi: 10.1002/ajmg.a.61561. Epub 2020 Mar 27. Am J Med Genet A. 2020. PMID: 32220052

7

Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.

Tosi L, Mitchell F, Porter GF, Ruland L, Gropman A, Lasutschinkow PC, Tran SL, Rajah EN, Gillies AP, Hendrie P, Peret R, Sadeghin T, Samango-Sprouse CA. Tosi L, et al. Among authors: gropman a. Am J Med Genet A. 2021 Dec;185(12):3531-3540. doi: 10.1002/ajmg.a.61578. Epub 2020 Apr 3. Am J Med Genet A. 2021. PMID: 32243688

8

49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder.

Samango-Sprouse C, Lasutschinkow PC, Mitchell F, Porter GF, Hendrie P, Powell S, Sadeghin T, Gropman A. Samango-Sprouse C, et al. Among authors: gropman a. Am J Med Genet A. 2021 Dec;185(12):3557-3566. doi: 10.1002/ajmg.a.61742. Epub 2020 Jul 13. Am J Med Genet A. 2021. PMID: 32656941

9

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.

Gropman AL, Barkovich AJ, Vezina LG, Conry JA, Dubovsky EC, Packer RJ. Gropman AL, et al. Neuropediatrics. 1997 Aug;28(4):198-203. doi: 10.1055/s-2007-973700. Neuropediatrics. 1997. PMID: 9309709

10

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, Novotny EJ, Gropman A, Conry JA, Berry GT, Tuchman M. Pearl PL, et al. Among authors: gropman a. Neurology. 2003 May 13;60(9):1413-7. doi: 10.1212/01.wnl.0000059549.70717.80. Neurology. 2003. PMID: 12743223

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