Merla G - Search Results

1

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Among authors: merla g. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472

2

A perspective on diet, epigenetics and complex diseases: where is the field headed next?

Coppedè F, Franzago M, Giardina E, Lo Nigro C, Matullo G, Moltrasio C, Nacmias B, Pileggi S, Sirchia SM, Stoccoro A, Storlazzi CT, Stuppia L, Tricarico R, Merla G. Coppedè F, et al. Among authors: merla g. Epigenomics. 2022 Oct;14(20):1281-1304. doi: 10.2217/epi-2022-0239. Epub 2022 Nov 3. Epigenomics. 2022. PMID: 36325816 Review.

3

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.

Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A. Cairo S, et al. Among authors: merla g. Hum Mol Genet. 2001 Mar 15;10(6):617-27. doi: 10.1093/hmg/10.6.617. Hum Mol Genet. 2001. PMID: 11230181

4

Identification of additional transcripts in the Williams-Beuren syndrome critical region.

Merla G, Ucla C, Guipponi M, Reymond A. Merla G, et al. Hum Genet. 2002 May;110(5):429-38. doi: 10.1007/s00439-002-0710-x. Epub 2002 Mar 28. Hum Genet. 2002. PMID: 12073013

5

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Deutsch S, Rideau A, Bochaton-Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P. Deutsch S, et al. Among authors: merla g. Blood. 2003 Jul 15;102(2):529-34. doi: 10.1182/blood-2002-09-2783. Epub 2003 Mar 20. Blood. 2003. PMID: 12649151 Free article.

6

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.

Merla G, Howald C, Antonarakis SE, Reymond A. Merla G, et al. Hum Mol Genet. 2004 Jul 15;13(14):1505-14. doi: 10.1093/hmg/ddh163. Epub 2004 May 26. Hum Mol Genet. 2004. PMID: 15163635

7

Detection of aneuploidies by paralogous sequence quantification.

Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE. Deutsch S, et al. Among authors: merla g. J Med Genet. 2004 Dec;41(12):908-15. doi: 10.1136/jmg.2004.023184. J Med Genet. 2004. PMID: 15591276 Free PMC article.

8

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

Howald C, Merla G, Digilio MC, Amenta S, Lyle R, Deutsch S, Choudhury U, Bottani A, Antonarakis SE, Fryssira H, Dallapiccola B, Reymond A. Howald C, et al. Among authors: merla g. J Med Genet. 2006 Mar;43(3):266-73. doi: 10.1136/jmg.2005.034009. Epub 2005 Jul 1. J Med Genet. 2006. PMID: 15994861 Free PMC article.

9

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A. Merla G, et al. Am J Hum Genet. 2006 Aug;79(2):332-41. doi: 10.1086/506371. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826523 Free PMC article.

10

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.

Muscarella LA, Barbano R, Augello B, Formica V, Micale L, Zelante L, D'Agruma L, Merla G. Muscarella LA, et al. Among authors: merla g. J Hum Genet. 2007;52(6):485-491. doi: 10.1007/s10038-007-0138-1. Epub 2007 Apr 17. J Hum Genet. 2007. PMID: 17437055

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