Desnick RJ - Search Results

1

Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.

Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL. Franco HL, et al. Among authors: desnick rj. Int J Biochem Cell Biol. 2011 Oct;43(10):1523-31. doi: 10.1016/j.biocel.2011.07.003. Epub 2011 Jul 27. Int J Biochem Cell Biol. 2011. PMID: 21801849 Free PMC article.

2

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Tukel T, et al. Among authors: desnick rj. Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009. Am J Hum Genet. 2010. PMID: 20691403 Free PMC article.

3

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. Rosti RO, et al. Among authors: desnick rj. Clin Genet. 2015 Nov;88(5):489-493. doi: 10.1111/cge.12539. Epub 2014 Dec 11. Clin Genet. 2015. PMID: 25410422 Free PMC article.

4

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.

Crespo NE, Torres-Bracero A, Renta JY, Desnick RJ, Cadilla CL. Crespo NE, et al. Among authors: desnick rj. Int J Environ Res Public Health. 2021 Feb 19;18(4):1997. doi: 10.3390/ijerph18041997. Int J Environ Res Public Health. 2021. PMID: 33669496 Free PMC article.

5

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. Cervantes-Barragán DE, et al. Among authors: desnick rj. J Med Genet. 2011 Oct;48(10):716-20. doi: 10.1136/jmedgenet-2011-100251. J Med Genet. 2011. PMID: 21931173

6

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ. Weaver DD, et al. Among authors: desnick rj. Am J Med Genet A. 2015 May;167A(5):1061-70. doi: 10.1002/ajmg.a.36973. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728400

7

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, Weaver DD, Desnick RJ. Lee BH, et al. Among authors: desnick rj. J Hum Genet. 2015 Nov;60(11):717-22. doi: 10.1038/jhg.2015.103. Epub 2015 Aug 27. J Hum Genet. 2015. PMID: 26311541

8

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F. Giordano L, et al. Among authors: desnick rj. Pediatr Neurol. 2014 Apr;50(4):389-91. doi: 10.1016/j.pediatrneurol.2013.12.009. Epub 2013 Dec 14. Pediatr Neurol. 2014. PMID: 24486222

9

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.

Ioannou YA, Bishop DF, Desnick RJ. Ioannou YA, et al. Among authors: desnick rj. J Cell Biol. 1992 Dec;119(5):1137-50. doi: 10.1083/jcb.119.5.1137. J Cell Biol. 1992. PMID: 1332979 Free PMC article.

10

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Haghighi A, Masri A, Kornreich R, Desnick RJ. Haghighi A, et al. Among authors: desnick rj. Mol Genet Metab. 2011 Dec;104(4):700-2. doi: 10.1016/j.ymgme.2011.09.013. Epub 2011 Sep 16. Mol Genet Metab. 2011. PMID: 21967858

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