Lyons MJ - Search Results

1

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V. Veerapandiyan A, et al. Among authors: lyons mj. Am J Med Genet A. 2011 Sep;155A(9):2186-95. doi: 10.1002/ajmg.a.34226. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834039

2

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.

Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Lyons MJ, et al. J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805826

3

FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.

Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. Clark RD, et al. Among authors: lyons mj. Genet Med. 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90. Genet Med. 2009. PMID: 19938245 Free PMC article.

4

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA. Langley KG, et al. Among authors: lyons m. Am J Med Genet A. 2015 Dec;167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4. Am J Med Genet A. 2015. PMID: 26338144

5

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.

Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. Smith JA, et al. Among authors: lyons mj. Am J Med Genet A. 2016 Dec;170(12):3313-3318. doi: 10.1002/ajmg.a.37945. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27570168

6

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Among authors: lyons mj. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC article.

7

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. Burns W, et al. Among authors: lyons mj. Am J Med Genet A. 2021 Oct;185(10):2863-2872. doi: 10.1002/ajmg.a.62359. Epub 2021 May 29. Am J Med Genet A. 2021. PMID: 34050707

8

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

Fry D, Groepper D, MacCarrick G, Demo EM, Thomas MJ, Wilkes MJ, Lyons MJ, Tucker ME, Steding C, Fleischer J. Fry D, et al. Among authors: lyons mj. Am J Med Genet A. 2022 Jul;188(7):2237-2241. doi: 10.1002/ajmg.a.62758. Epub 2022 Apr 15. Am J Med Genet A. 2022. PMID: 35426477

9

Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.

Dean SJ, Holden KR, Dwivedi A, Dupont BR, Lyons MJ. Dean SJ, et al. Among authors: lyons mj. Pediatr Neurol. 2014 Jun;50(6):636-9. doi: 10.1016/j.pediatrneurol.2014.01.055. Epub 2014 Feb 10. Pediatr Neurol. 2014. PMID: 24725350

10

Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.

Mooneyham KA, Holden KR, Cathey S, Dwivedi A, Dupont BR, Lyons MJ. Mooneyham KA, et al. Among authors: lyons mj. Am J Med Genet A. 2014 Nov;164A(11):2887-91. doi: 10.1002/ajmg.a.36708. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25123844

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