Stattin EL - Search Results

1

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Frisk S, Taylan F, Blaszczyk I, Nennesmo I, Annerén G, Herm B, Stattin EL, Zachariadis V, Lindstrand A, Tesi B, Laurell T, Nordgren A. Frisk S, et al. Among authors: stattin el. Clin Genet. 2019 Aug;96(2):118-125. doi: 10.1111/cge.13543. Epub 2019 May 9. Clin Genet. 2019. PMID: 30919936 Free PMC article.

2

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC. Hilton EN, et al. Among authors: stattin el. Hum Mol Genet. 2007 Jul 15;16(14):1773-82. doi: 10.1093/hmg/ddm125. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517692

3

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Wentzel C, Rajcan-Separovic E, Ruivenkamp CA, Chantot-Bastaraud S, Metay C, Andrieux J, Annerén G, Gijsbers AC, Druart L, Hyon C, Portnoi MF, Stattin EL, Vincent-Delorme C, Kant SG, Steinraths M, Marlin S, Giurgea I, Thuresson AC. Wentzel C, et al. Among authors: stattin el. Eur J Hum Genet. 2011 Sep;19(9):959-64. doi: 10.1038/ejhg.2011.71. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522184 Free PMC article.

4

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.

5

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L. Angius A, et al. Among authors: stattin el. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30859550

6

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.

Clewemar P, Hailer NP, Hailer Y, Klar J, Kindmark A, Ljunggren Ö, Stattin EL. Clewemar P, et al. Among authors: stattin el. Mol Genet Genomic Med. 2019 Jul;7(7):e00723. doi: 10.1002/mgg3.723. Epub 2019 May 16. Mol Genet Genomic Med. 2019. PMID: 31099171 Free PMC article.

7

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Thuresson AC, Croft B, Hailer YD, Liminga G, Arvidsson CG, Harley VR, Stattin EL. Thuresson AC, et al. Among authors: stattin el. Clin Genet. 2021 Feb;99(2):325-329. doi: 10.1111/cge.13880. Clin Genet. 2021. PMID: 33174625 Free PMC article.

8

Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.

Eisfeldt J, Schuy J, Stattin EL, Kvarnung M, Falk A, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: stattin el. Int J Mol Sci. 2022 Aug 20;23(16):9392. doi: 10.3390/ijms23169392. Int J Mol Sci. 2022. PMID: 36012658 Free PMC article.

9

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.

10

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.

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