Bondeson ML - Search Results

1

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M. Allanson JE, et al. Among authors: bondeson ml. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495173 Free PMC article.

2

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

Wester U, Bondeson ML, Edeby C, Annerén G. Wester U, et al. Among authors: bondeson ml. Am J Med Genet A. 2006 Jun 1;140(11):1164-71. doi: 10.1002/ajmg.a.31260. Am J Med Genet A. 2006. PMID: 16691587

3

Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.

Bondeson ML, Nyström AM, Gunnarsson U, Vahlquist A. Bondeson ML, et al. Acta Derm Venereol. 2006;86(6):503-8. doi: 10.2340/00015555-0164. Acta Derm Venereol. 2006. PMID: 17106596 Free article.

4

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: bondeson ml. 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

5

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: bondeson ml. 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

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. Among authors: bondeson ml. 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. Among authors: bondeson ml. 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

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M. Flex E, et al. Among authors: bondeson ml. Hum Mol Genet. 2014 Aug 15;23(16):4315-27. doi: 10.1093/hmg/ddu148. Epub 2014 Apr 4. Hum Mol Genet. 2014. PMID: 24705357 Free PMC article.

9

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: bondeson ml. 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

10

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. Among authors: bondeson ml. 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.

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