Ekvall S - Search Results

1

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Moghaddam M, Westermark B, Annerén G, Bondeson ML. Nyström AM, et al. Among authors: ekvall s. Eur J Med Genet. 2010 May-Jun;53(3):117-21. doi: 10.1016/j.ejmg.2010.03.001. Epub 2010 Mar 17. Eur J Med Genet. 2010. PMID: 20302979

2

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML. Nyström AM, et al. Among authors: ekvall s. J Med Genet. 2008 Aug;45(8):500-6. doi: 10.1136/jmg.2008.057653. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456719

3

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

Nyström AM, Ekvall S, Strömberg B, Holmström G, Thuresson AC, Annerén G, Bondeson ML. Nyström AM, et al. Among authors: ekvall s. Acta Paediatr. 2009 Apr;98(4):693-8. doi: 10.1111/j.1651-2227.2008.01170.x. Epub 2008 Dec 18. Acta Paediatr. 2009. PMID: 19120036

4

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Nyström AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G, Bondeson ML, Annerén G. Nyström AM, et al. Among authors: ekvall s. Clin Genet. 2009 Dec;76(6):524-34. doi: 10.1111/j.1399-0004.2009.01233.x. Epub 2009 Oct 21. Clin Genet. 2009. PMID: 19845691

5

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

Wittström E, Ekvall S, Schatz P, Bondeson ML, Ponjavic V, Andréasson S. Wittström E, et al. Among authors: ekvall s. Ophthalmic Genet. 2011 Jun;32(2):83-96. doi: 10.3109/13816810.2010.535890. Epub 2010 Dec 30. Ophthalmic Genet. 2011. PMID: 21192766

6

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML. Ekvall S, et al. Am J Med Genet A. 2011 Jun;155A(6):1217-24. doi: 10.1002/ajmg.a.33987. Epub 2011 May 5. Am J Med Genet A. 2011. PMID: 21548061

7

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML. Ekvall S, et al. Am J Med Genet A. 2014 Mar;164A(3):579-87. doi: 10.1002/ajmg.a.36313. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357598

8

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML. Wilbe M, et al. Among authors: ekvall s. J Med Genet. 2015 Mar;52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612909

9

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML. Ekvall S, et al. BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. BMC Med Genet. 2015. PMID: 26467218 Free PMC article. Review.

10

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML. Gudmundsson S, et al. Among authors: ekvall s. Hum Mol Genet. 2017 Mar 15;26(6):1070-1077. doi: 10.1093/hmg/ddx017. Hum Mol Genet. 2017. PMID: 28158657 Free PMC article.

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