Ek J - Search Results

1

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. Ferreira CR, et al. Among authors: ek j. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003. Am J Hum Genet. 2018. PMID: 30290151 Free PMC article.

2

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Grímsdóttir S, Hove HB, Kreiborg S, Ek J, Johansen A, Darvann TA, Hermann NV. Grímsdóttir S, et al. Among authors: ek j. Clin Dysmorphol. 2019 Jan;28(1):41-45. doi: 10.1097/MCD.0000000000000244. Clin Dysmorphol. 2019. PMID: 30256248 No abstract available.

3

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.

Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, Molven A, Njølstad PR. Torsvik J, et al. Among authors: ek j. Hum Genet. 2010 Jan;127(1):55-64. doi: 10.1007/s00439-009-0740-8. Epub 2009 Sep 17. Hum Genet. 2010. PMID: 19760265

4

A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.

Barington M, Risom L, Ek J, Uldall P, Ostergaard E. Barington M, et al. Among authors: ek j. Eur J Hum Genet. 2018 Sep;26(9):1388-1391. doi: 10.1038/s41431-018-0184-5. Epub 2018 May 24. Eur J Hum Genet. 2018. PMID: 29795476 Free PMC article.

5

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi M, Wadt K, Ek J, Gerdes AM, Ostergaard E. Altaraihi M, et al. Among authors: ek j. Hum Genome Var. 2019 Feb 22;6:10. doi: 10.1038/s41439-019-0041-2. eCollection 2019. Hum Genome Var. 2019. PMID: 30820324 Free PMC article.

6

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE, Nielsen TT. Vinther-Jensen T, et al. Among authors: ek j. Eur J Hum Genet. 2013 Jun;21(6):626-9. doi: 10.1038/ejhg.2012.231. Epub 2012 Oct 10. Eur J Hum Genet. 2013. PMID: 23047744 Free PMC article.

7

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou XL, Taylor RW, Ostergaard E. Zheng WQ, et al. Among authors: ek j. Hum Mol Genet. 2022 Feb 21;31(4):523-534. doi: 10.1093/hmg/ddab257. Hum Mol Genet. 2022. PMID: 34508595

8

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR. Tørring PM, et al. Among authors: ek j. Eur J Med Genet. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27. Eur J Med Genet. 2019. PMID: 29959045

9

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.

Grønborg S, Risom L, Ek J, Larsen KB, Scheie D, Petkov Y, Larsen VA, Dunø M, Joensen F, Østergaard E. Grønborg S, et al. Among authors: ek j. Eur J Hum Genet. 2018 Oct;26(10):1512-1520. doi: 10.1038/s41431-018-0204-5. Epub 2018 Jun 19. Eur J Hum Genet. 2018. PMID: 29921875 Free PMC article.

10

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T. Johansen A, et al. Among authors: ek j. J Clin Endocrinol Metab. 2005 Aug;90(8):4607-14. doi: 10.1210/jc.2005-0196. Epub 2005 May 31. J Clin Endocrinol Metab. 2005. PMID: 15928245

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