Madeleine Fannemel

Madeleine Fannemel

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Madeleine Fannemel

Madeleine Fannemel

Publications by authors named "Madeleine Fannemel"

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13Publications

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

Am J Med Genet A 2015 Aug 6;167A(8):1890-6. Epub 2015 Apr 6.

Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.37079DOI Listing
August 2015

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.

Mol Cytogenet 2015 31;8:57. Epub 2015 Jul 31.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.

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http://dx.doi.org/10.1186/s13039-015-0157-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521466PMC
August 2015

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.

Eur J Med Genet 2014 Sep 7;57(9):513-9. Epub 2014 Jun 7.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.05.008DOI Listing
September 2014

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

Am J Med Genet A 2014 Jul 26;164A(7):1622-6. Epub 2014 Mar 26.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/ajmg.a.36498DOI Listing
July 2014

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

Eur J Med Genet 2013 Jul 9;56(7):361-4. Epub 2013 May 9.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2013.04.005DOI Listing
July 2013

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

Am J Med Genet A 2013 May 5;161A(5):1137-42. Epub 2013 Mar 5.

Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway.

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http://doi.wiley.com/10.1002/ajmg.a.35823
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http://dx.doi.org/10.1002/ajmg.a.35823DOI Listing
May 2013

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

Eur J Med Genet 2012 Dec 23;55(12):715-8. Epub 2012 Aug 23.

Department of Medical Genetics, Oslo University Hospital, Postboks 4956 Nydalen, 0424 Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.005DOI Listing
December 2012

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

Eur J Med Genet 2012 Dec 30;55(12):695-9. Epub 2012 Aug 30.

Department of Medical Genetics, Institute of Clinical Medicine, University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.002DOI Listing
December 2012

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

Eur J Med Genet 2010 Jul-Aug;53(4):221-4. Epub 2010 Apr 9.

Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.010DOI Listing
October 2010