Malmgren H - Search Results

1

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A. Tham E, et al. Among authors: malmgren h. Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728777 Free PMC article.

2

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.

Gustavson KH, Annerén G, Malmgren H, Dahl N, Ljunggren CG, Bäckman H. Gustavson KH, et al. Among authors: malmgren h. Am J Med Genet. 1993 Mar 1;45(5):654-8. doi: 10.1002/ajmg.1320450527. Am J Med Genet. 1993. PMID: 8456840

3

Linkage mapping of a severe X-linked mental retardation syndrome.

Malmgren H, Sundvall M, Dahl N, Gustavson KH, Annerén G, Wadelius C, Steén-Bondeson ML, Pettersson U. Malmgren H, et al. Am J Hum Genet. 1993 Jun;52(6):1046-52. Am J Hum Genet. 1993. PMID: 8503440 Free PMC article.

4

Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34): deletion/duplication of 7q33-34 and clinical correlations.

Malmgren H, Malm G, Sahlén S, Karlsson M, Blennow E. Malmgren H, et al. Am J Med Genet A. 2005 Nov 15;139(1):25-31. doi: 10.1002/ajmg.a.30983. Am J Med Genet A. 2005. PMID: 16222668

5

Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review.

Malmgren H, Sahlén S, Wide K, Lundvall M, Blennow E. Malmgren H, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2143-9. doi: 10.1002/ajmg.a.31902. Am J Med Genet A. 2007. PMID: 17696125

6

Concurrent microdeletion and duplication of 22q11.2.

Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B. Blennow E, et al. Among authors: malmgren h. Clin Genet. 2008 Jul;74(1):61-7. doi: 10.1111/j.1399-0004.2008.01008.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445048

7

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion.

Lindstrand A, Malmgren H, Sahlén S, Xin H, Schoumans J, Blennow E. Lindstrand A, et al. Among authors: malmgren h. Am J Med Genet A. 2008 Dec 15;146A(24):3217-22. doi: 10.1002/ajmg.a.32570. Am J Med Genet A. 2008. PMID: 19006217 No abstract available.

8

Detailed molecular and clinical characterization of three patients with 21q deletions.

Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. Lindstrand A, et al. Among authors: malmgren h. Clin Genet. 2010 Feb;77(2):145-54. doi: 10.1111/j.1399-0004.2009.01289.x. Epub 2009 Oct 23. Clin Genet. 2010. PMID: 19863549

9

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.

Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E. Lindstrand A, et al. Among authors: malmgren h. Clin Genet. 2010 Jun;77(6):552-62. doi: 10.1111/j.1399-0004.2009.01341.x. Epub 2010 Mar 4. Clin Genet. 2010. PMID: 20236111

10

Molecular and clinical characterization of patients with overlapping 10p deletions.

Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, Anderlid BM, Golovleva I, Schoumans J, Blennow E. Lindstrand A, et al. Among authors: malmgren h. Am J Med Genet A. 2010 May;152A(5):1233-43. doi: 10.1002/ajmg.a.33366. Am J Med Genet A. 2010. PMID: 20425828

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