Fannemel M - Search Results

1

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G. Johansson S, et al. Among authors: fannemel m. Am J Med Genet A. 2014 Jul;164A(7):1622-6. doi: 10.1002/ajmg.a.36498. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24678003

2

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E. Misceo D, et al. Among authors: fannemel m. Am J Med Genet A. 2011 Feb;155A(2):403-8. doi: 10.1002/ajmg.a.33798. Epub 2011 Jan 14. Am J Med Genet A. 2011. PMID: 21271662

3

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.

Selmer KK, Bryne E, Rødningen OK, Fannemel M. Selmer KK, et al. Among authors: fannemel m. Eur J Med Genet. 2012 Dec;55(12):715-8. doi: 10.1016/j.ejmg.2012.08.005. Epub 2012 Aug 23. Eur J Med Genet. 2012. PMID: 22975012

4

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E. Floor K, et al. Among authors: fannemel m. Eur J Med Genet. 2012 Dec;55(12):695-9. doi: 10.1016/j.ejmg.2012.08.002. Epub 2012 Aug 30. Eur J Med Genet. 2012. PMID: 22986108

5

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E. Barøy T, et al. Among authors: fannemel m. Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3. Orphanet J Rare Dis. 2013. PMID: 23294540 Free PMC article.

6

Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E. Helle JR, et al. Among authors: fannemel m. Am J Med Genet A. 2013 May;161A(5):1137-42. doi: 10.1002/ajmg.a.35823. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463539

7

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D. Fannemel M, et al. Eur J Med Genet. 2014 Sep;57(9):513-9. doi: 10.1016/j.ejmg.2014.05.008. Epub 2014 Jun 7. Eur J Med Genet. 2014. PMID: 24911659

8

Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.

Carlsen EØ, Frengen E, Fannemel M, Misceo D. Carlsen EØ, et al. Among authors: fannemel m. Am J Med Genet A. 2015 Aug;167A(8):1890-6. doi: 10.1002/ajmg.a.37079. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25846056

9

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J; UK10K Consortium; Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study, FitzPatrick DR. Bengani H, et al. Among authors: fannemel m. Genet Med. 2017 Aug;19(8):900-908. doi: 10.1038/gim.2016.211. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151491 Free PMC article.

10

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X. Chen CA, et al. Among authors: fannemel m. Hum Mutat. 2020 Oct;41(10):1738-1744. doi: 10.1002/humu.24075. Epub 2020 Jul 19. Hum Mutat. 2020. PMID: 32643838

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