Publications by authors named "Geir J Braathen"

16Publications

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing".

Biomed Res Int 2015 8;2015:314651. Epub 2015 Oct 8.

Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/314651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617881PMC
February 2016

Hereditary peripheral neuropathies diagnosed by next-generation sequencing.

Tidsskr Nor Laegeforen 2015 Nov 3;135(20):1838-44. Epub 2015 Nov 3.

Seksjon for medisinsk genetikk Avdeling for laboratoriemedisin Sykehuset Telemark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.14.1002DOI Listing
November 2015

Clinical exome sequencing – Norwegian findings.

Tidsskr Nor Laegeforen 2015 Nov 3;135(20):1833-7. Epub 2015 Nov 3.

Seksjon for medisinsk genetikk Avdeling for laboratoriemedisin Sykehuset Telemark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.14.1442DOI Listing
November 2015

Copy number variations in a population-based study of Charcot-Marie-Tooth disease.

Biomed Res Int 2015 8;2015:960404. Epub 2015 Jan 8.

Head and Neck Research Group, Research Centre, Akershus University Hospital, 1478 Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, 1474 Nordbyhagen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/960404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306395PMC
November 2015

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Biomed Res Int 2014 16;2014:210401. Epub 2014 Jun 16.

Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Norway.

View Article

Download full-text PDF

Source
http://downloads.hindawi.com/journals/bmri/2014/210401.pdf
Web Search
http://www.hindawi.com/journals/bmri/2014/210401/
Publisher Site
http://dx.doi.org/10.1155/2014/210401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082881PMC
March 2015

Stem cell marker-positive stellate cells and mast cells are reduced in benign-appearing bladder tissue in patients with urothelial carcinoma.

Virchows Arch 2014 Apr 26;464(4):473-88. Epub 2014 Feb 26.

Department of Pathology, Telemark Hospital, Ulefossveien, 3710, Skien, Norway,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00428-014-1561-2DOI Listing
April 2014

Diagnosis of intraurothelial neoplasia. Interobserver variation and the value of individual histopathologic attributes.

Anal Quant Cytol Histol 2011 Apr;33(2):75-81

Department of Pathology and Section of Medical Genetics, Telemark Hospital, Skien, Norway.

View Article

Download full-text PDF

Source
April 2011

Simplification of grading papillary urothelial neoplasia using a reduced set of diagnostic features.

Anal Quant Cytol Histol 2011 Apr;33(2):68-74

Department of Pathology and Section of Medical Genetics, Telemark Hospital, Skien, Norway.

View Article

Download full-text PDF

Source
April 2011

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

Eur J Med Genet 2011 Nov-Dec;54(6):e580-3. Epub 2011 Jul 18.

Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, Skien, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.06.006DOI Listing
January 2012

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.

BMC Res Notes 2010 Apr 12;3:99. Epub 2010 Apr 12.

Faculty Division Akershus University Hospital, University of Oslo, 1474 Nordbyhagen, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1756-0500-3-99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861067PMC
April 2010

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

BMC Med Genet 2010 Mar 29;11:48. Epub 2010 Mar 29.

Faculty Division Akershus University Hospital, University of Oslo, Nordbyhagen, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-11-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859816PMC
March 2010

Registration of Down syndrome in the Medical Birth Registry of Norway: validity and time trends.

Acta Obstet Gynecol Scand 2008 ;87(8):824-30

Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/00016340802217184DOI Listing
September 2008

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

BMC Neurol 2007 Jul 9;7:19. Epub 2007 Jul 9.

Faculty Division Akershus University Hospital, University of Oslo, 1474 Nordbyhagen, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2377-7-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1999495PMC
July 2007

[Cerebral cavernous malformations].

Tidsskr Nor Laegeforen 2005 Aug;125(15):2008-10

Nevrologisk avdeling, Akershus universitetssykehus, 1478 Lørenskog.

View Article

Download full-text PDF

Source
August 2005

[Episodic ataxias].

Tidsskr Nor Laegeforen 2005 Aug;125(15):2005-7

Nevrologisk avdeling, Akershus universitetssykehus, 1478 Lørenskog.

View Article

Download full-text PDF

Source
August 2005