Manzini MC - Search Results

1

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium; Stemple D, Lin YY, Muntoni F. Stevens E, et al. Among authors: manzini mc. Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453667 Free PMC article.

2

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.

Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME. Rajab A, et al. Among authors: manzini mc. Am J Med Genet A. 2007 Dec 1;143A(23):2761-7. doi: 10.1002/ajmg.a.31955. Am J Med Genet A. 2007. PMID: 17975804

3

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA. Manzini MC, et al. Hum Mutat. 2008 Nov;29(11):E231-41. doi: 10.1002/humu.20844. Hum Mutat. 2008. PMID: 18752264 Free PMC article.

4

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

Manzini MC, Walsh CA. Manzini MC, et al. Curr Opin Genet Dev. 2011 Jun;21(3):333-9. doi: 10.1016/j.gde.2011.01.006. Epub 2011 Feb 1. Curr Opin Genet Dev. 2011. PMID: 21288712 Free PMC article. Review.

5

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. Labelle-Dumais C, et al. Among authors: manzini mc. PLoS Genet. 2011 May;7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19. PLoS Genet. 2011. PMID: 21625620 Free PMC article.

6

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, Seidahmed MZ, Mukhtar MM, Karrar ZA, Walsh CA, Campbell KP, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: manzini mc. BMC Res Notes. 2011 Dec 13;4:534. doi: 10.1186/1756-0500-4-534. BMC Res Notes. 2011. PMID: 22166137 Free PMC article.

7

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

Marangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri G. Marangi G, et al. Among authors: manzini mc. Am J Med Genet A. 2012 Apr;158A(4):888-93. doi: 10.1002/ajmg.a.35254. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419660 Free PMC article.

8

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA. Manzini MC, et al. Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009. Am J Hum Genet. 2012. PMID: 22958903 Free PMC article.

9

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. Di Costanzo S, et al. Among authors: manzini mc. Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11. Hum Mol Genet. 2014. PMID: 24925318 Free PMC article.

10

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA. Manzini MC, et al. Cell Rep. 2014 Aug 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24. Cell Rep. 2014. PMID: 25066123 Free PMC article.

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