Bremer A - Search Results

1

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O. Bonaglia MC, et al. Among authors: bremer a. PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779178 Free PMC article.

2

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M. Bremer A, et al. Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1. Eur J Med Genet. 2009. PMID: 19576304

3

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J. Bremer A, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):115-24. doi: 10.1002/ajmg.b.31142. Epub 2010 Dec 8. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302340

4

Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.

Bremer A, Giacobini M, Nordenskjöld M, Brøndum-Nielsen K, Mansouri M, Dahl N, Anderlid B, Schoumans J. Bremer A, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):280-5. doi: 10.1002/ajmg.b.30954. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19319887

5

Rare copy number variants are common in young children with autism spectrum disorder.

Eriksson MA, Liedén A, Westerlund J, Bremer A, Wincent J, Sahlin E, Gillberg C, Fernell E, Anderlid BM. Eriksson MA, et al. Among authors: bremer a. Acta Paediatr. 2015 Jun;104(6):610-8. doi: 10.1111/apa.12969. Epub 2015 Mar 11. Acta Paediatr. 2015. PMID: 25661985

6

Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literature.

Nordgren A, Corcoran M, Sääf A, Bremer A, Kluin-Nelemans HC, Schoumans J, Grandér D. Nordgren A, et al. Among authors: bremer a. Eur J Haematol. 2010 Jan 1;84(1):17-25. doi: 10.1111/j.1600-0609.2009.01334.x. Eur J Haematol. 2010. PMID: 19682064 Review.

7

Mutation screening of melatonin-related genes in patients with autism spectrum disorders.

Jonsson L, Ljunggren E, Bremer A, Pedersen C, Landén M, Thuresson K, Giacobini M, Melke J. Jonsson L, et al. Among authors: bremer a. BMC Med Genomics. 2010 Apr 8;3:10. doi: 10.1186/1755-8794-3-10. BMC Med Genomics. 2010. PMID: 20377855 Free PMC article.

8

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J. Wincent J, et al. Among authors: bremer a. Mol Syndromol. 2010;1(5):246-254. doi: 10.1159/000327982. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22140377 Free PMC article.

9

Dravet syndrome--considerable delay in making the diagnosis.

Bremer A, Lossius MI, Nakken KO. Bremer A, et al. Acta Neurol Scand. 2012 May;125(5):359-62. doi: 10.1111/j.1600-0404.2011.01609.x. Epub 2011 Nov 2. Acta Neurol Scand. 2012. PMID: 22050316

10

[Dravet syndrome as a cause of epilepsy and learning disability].

Lund C, Bremer A, Lossius MI, Selmer KK, Brodtkorb E, Nakken KO. Lund C, et al. Among authors: bremer a. Tidsskr Nor Laegeforen. 2012 Jan 10;132(1):44-7. doi: 10.4045/tidsskr.11.0539. Tidsskr Nor Laegeforen. 2012. PMID: 22240828 Free article. Review. Norwegian.

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