Stattin EL - Search Results

1

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin EL, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandström PE, Kellgren TG, Rydén P, Hallmans G, Lönnerholm T, Ameur A, Helfrich MH, Coxon FP, Dahl N, Wikström J, Lerner UH. Stattin EL, et al. Sci Rep. 2017 Jun 7;7(1):3012. doi: 10.1038/s41598-017-02533-2. Sci Rep. 2017. PMID: 28592808 Free PMC article.

2

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.

Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, Toniolo D, Bione S, Peluso J, Dahl N. Mansouri MR, et al. Among authors: stattin el. Hum Mol Genet. 2008 Dec 1;17(23):3776-83. doi: 10.1093/hmg/ddn274. Epub 2008 Sep 9. Hum Mol Genet. 2008. PMID: 18782852 Free PMC article.

3

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

Entesarian M, Carlsson B, Mansouri MR, Stattin EL, Holmberg E, Golovleva I, Stefansson H, Klar J, Dahl N. Entesarian M, et al. Among authors: stattin el. Am J Med Genet A. 2009 Mar;149A(3):380-6. doi: 10.1002/ajmg.a.32663. Am J Med Genet A. 2009. PMID: 19213037

4

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

Stattin EL, Lindén B, Lönnerholm T, Schuster J, Dahl N. Stattin EL, et al. Eur J Med Genet. 2009 Sep-Oct;52(5):297-302. doi: 10.1016/j.ejmg.2009.05.008. Epub 2009 May 21. Eur J Med Genet. 2009. PMID: 19464397

5

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegård D, Aspberg A. Stattin EL, et al. Am J Hum Genet. 2010 Feb 12;86(2):126-37. doi: 10.1016/j.ajhg.2009.12.018. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137779 Free PMC article.

6

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.

Hooper SD, Johansson AC, Tellgren-Roth C, Stattin EL, Dahl N, Cavelier L, Feuk L. Hooper SD, et al. Among authors: stattin el. BMC Med Genet. 2012 Dec 19;13:123. doi: 10.1186/1471-2350-13-123. BMC Med Genet. 2012. PMID: 23253088 Free PMC article.

7

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

Hannuksela M, Stattin EL, Klar J, Ameur A, Johansson B, Sörensen K, Carlberg B. Hannuksela M, et al. Among authors: stattin el. BMC Med Genet. 2016 Sep 1;17(1):61. doi: 10.1186/s12881-016-0326-y. BMC Med Genet. 2016. PMID: 27586135 Free PMC article.

8

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Wilbe M, Gudmundsson S, Johansson J, Ameur A, Stattin EL, Annerén G, Malmgren H, Frykholm C, Bondeson ML. Wilbe M, et al. Among authors: stattin el. Prenat Diagn. 2017 Nov;37(11):1146-1154. doi: 10.1002/pd.5156. Epub 2017 Oct 17. Prenat Diagn. 2017. PMID: 28921562 Free PMC article.

9

Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.

Xu M, Stattin EL, Murphy M, Barry F. Xu M, et al. Among authors: stattin el. Stem Cell Res. 2017 Oct;24:51-54. doi: 10.1016/j.scr.2017.07.024. Epub 2017 Jul 24. Stem Cell Res. 2017. PMID: 29034896 Free article.

10

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Stattin EL, Johansson J, Gudmundsson S, Ameur A, Lundberg S, Bondeson ML, Wilbe M. Stattin EL, et al. Am J Med Genet A. 2018 Jun;176(6):1405-1410. doi: 10.1002/ajmg.a.38691. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663639

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