Fannemel M - Search Results

1

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

2

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E. Barøy T, et al. Among authors: fannemel m. Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382277

3

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

4

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E. Misceo D, et al. Among authors: fannemel m. Gene. 2012 Oct 1;507(1):85-91. doi: 10.1016/j.gene.2012.07.021. Epub 2012 Jul 27. Gene. 2012. PMID: 22842548

5

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

6

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.

7

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

8

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

Gamage TH, Misceo D, Fannemel M, Frengen E. Gamage TH, et al. Among authors: fannemel m. Eur J Med Genet. 2013 Jul;56(7):361-4. doi: 10.1016/j.ejmg.2013.04.005. Epub 2013 May 9. Eur J Med Genet. 2013. PMID: 23664928

9

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

10

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

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