Lindstrand A - Search Results

1

Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.

Ek M, Kvarnung M, Pettersson M, Soller MJ, Anderlid BM, Thonberg H, Eisfeldt J, Lindstrand A. Ek M, et al. Among authors: lindstrand a. Sci Rep. 2024 Dec 5;14(1):30343. doi: 10.1038/s41598-024-81507-7. Sci Rep. 2024. PMID: 39639090 Free PMC article.

2

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. 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

3

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. 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

4

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.

Kvarnung M, Lindstrand A, Malmgren H, Thåström A, Jacobson L, Dahl N, Lundin J, Blennow E. Kvarnung M, et al. Among authors: lindstrand a. Am J Med Genet A. 2012 May;158A(5):1111-7. doi: 10.1002/ajmg.a.35311. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495764

5

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A. Kvarnung M, et al. Among authors: lindstrand a. J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1. J Med Genet. 2013. PMID: 23636107

6

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Lindstrand A, et al. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977

7

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Laurell T, et al. Among authors: lindstrand a. Mol Genet Genomic Med. 2014 Sep;2(5):402-11. doi: 10.1002/mgg3.81. Epub 2014 May 14. Mol Genet Genomic Med. 2014. PMID: 25333065 Free PMC article.

8

CTNND2-a candidate gene for reading problems and mild intellectual disability.

Hofmeister W, Nilsson D, Topa A, Anderlid BM, Darki F, Matsson H, Tapia Páez I, Klingberg T, Samuelsson L, Wirta V, Vezzi F, Kere J, Nordenskjöld M, Syk Lundberg E, Lindstrand A. Hofmeister W, et al. Among authors: lindstrand a. J Med Genet. 2015 Feb;52(2):111-22. doi: 10.1136/jmedgenet-2014-102757. Epub 2014 Dec 3. J Med Genet. 2015. PMID: 25473103

9

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.

Viljakainen H, Andersson-Assarsson JC, Armenio M, Pekkinen M, Pettersson M, Valta H, Lipsanen-Nyman M, Mäkitie O, Lindstrand A. Viljakainen H, et al. Among authors: lindstrand a. PLoS One. 2015 Jul 1;10(7):e0131883. doi: 10.1371/journal.pone.0131883. eCollection 2015. PLoS One. 2015. PMID: 26132294 Free PMC article.

10

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D. Bramswig NC, et al. Among authors: lindstrand a. Hum Genet. 2017 Feb;136(2):179-192. doi: 10.1007/s00439-016-1743-x. Epub 2016 Nov 15. Hum Genet. 2017. PMID: 27848077

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