Entesarian M - Search Results

1

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.

Entesarian M, Matsson H, Klar J, Bergendal B, Olson L, Arakaki R, Hayashi Y, Ohuchi H, Falahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl N. Entesarian M, et al. Nat Genet. 2005 Feb;37(2):125-7. doi: 10.1038/ng1507. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654336

2

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N. Entesarian M, et al. Eur J Hum Genet. 2007 Mar;15(3):379-82. doi: 10.1038/sj.ejhg.5201762. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213838

3

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, Entesarian M, Dahl N, Baig SM. Rasool M, et al. Among authors: entesarian m. J Hum Genet. 2008;53(10):894-898. doi: 10.1007/s10038-008-0323-x. Epub 2008 Aug 9. J Hum Genet. 2008. PMID: 18688569

4

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

Entesarian M, Carlsson B, Mansouri MR, Stattin EL, Holmberg E, Golovleva I, Stefansson H, Klar J, Dahl N. Entesarian M, et al. Am J Med Genet A. 2009 Mar;149A(3):380-6. doi: 10.1002/ajmg.a.32663. Am J Med Genet A. 2009. PMID: 19213037

5

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.

Gabriková D, Frykholm C, Friberg U, Lahsaee S, Entesarian M, Dahl N, Klar J. Gabriková D, et al. Among authors: entesarian m. J Hum Genet. 2010 Dec;55(12):834-7. doi: 10.1038/jhg.2010.122. Epub 2010 Oct 7. J Hum Genet. 2010. PMID: 20927121

6

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MBC, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J, Dahl N. Fröjmark AS, et al. Among authors: entesarian m. Am J Hum Genet. 2011 Jun 10;88(6):852-860. doi: 10.1016/j.ajhg.2011.05.013. Am J Hum Genet. 2011. PMID: 21665003 Free PMC article.

7

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

Klar J, Sobol M, Melberg A, Mäbert K, Ameur A, Johansson AC, Feuk L, Entesarian M, Orlén H, Casar-Borota O, Dahl N. Klar J, et al. Among authors: entesarian m. Hum Mutat. 2013 Apr;34(4):572-7. doi: 10.1002/humu.22282. Hum Mutat. 2013. PMID: 23348830

8

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. Orlén H, et al. Among authors: entesarian m. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19194956

9

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.

Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjöld M, Palmblad J, Henter JI, Dahl N. Melin M, et al. Among authors: entesarian m. Biochem Biophys Res Commun. 2007 Feb 16;353(3):571-5. doi: 10.1016/j.bbrc.2006.12.086. Epub 2006 Dec 20. Biochem Biophys Res Commun. 2007. PMID: 17188649 Free PMC article.

10

Re-evaluation of the dysequilibrium syndrome.

Melberg A, Orlén H, Raininko R, Entesarian M, Dahlqvist J, Gustavson KH, Dahl N. Melberg A, et al. Among authors: entesarian m. Acta Neurol Scand. 2011 Jan;123(1):28-33. doi: 10.1111/j.1600-0404.2010.01335.x. Acta Neurol Scand. 2011. PMID: 20199520

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