Publications by authors named "Trine E Prescott"

17Publications

A pregnant woman with pancytopenia.

Tidsskr Nor Laegeforen 2019 Nov 18;139(17). Epub 2019 Nov 18.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.19.0022DOI Listing
November 2019

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

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Two male sibs with severe micrognathia and a missense variant in MED12.

Eur J Med Genet 2016 Aug 7;59(8):367-72. Epub 2016 Jun 7.

Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.06.001DOI Listing
August 2016

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.

Gene 2013 Apr 29;518(2):457-60. Epub 2013 Jan 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.01.029DOI Listing
April 2013

[Determination of chromosome aberrations with the help of DNA arrays].

Tidsskr Nor Laegeforen 2010 May;130(9):944-7

Avdeling for medisinsk genetikk, Oslo universitetssykehus, Ullevål 0407 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.10.0101DOI Listing
May 2010

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

Tidsskr Nor Laegeforen 2009 Nov;129(22):2358-61

Gades institutt, Universitetet i Bergen og Avdeling for patologi Haukeland universitetssykehus 5021 Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.09.0267DOI Listing
November 2009

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.

Clin Dysmorphol 2009 Apr;18(2):78-82

Departments of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Ullevål University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00019605-200904000-000
Publisher Site
http://dx.doi.org/10.1097/MCD.0b013e32831e19cdDOI Listing
April 2009

Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies.

Acta Obstet Gynecol Scand 2008 ;87(10):998-1005

Department of Obstetrics and Gynecology, Rikshospitalet University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/00016340802415630DOI Listing
November 2008

Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?

Eur J Med Genet 2007 Mar-Apr;50(2):155-8. Epub 2007 Jan 20.

Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2006.12.003DOI Listing
May 2007

Posterior helical pits.

Eur J Med Genet 2007 Mar-Apr;50(2):159-61. Epub 2006 Nov 30.

Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Forskningsveien 2b, 0027 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2006.11.003DOI Listing
May 2007

A surrealistic mega-analysis of redisorganization theories.

Healthc Q 2006 ;9(3):50-4

Norwegian Centre for Health Services Research, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12927/hcq..18228DOI Listing
October 2006

A surrealistic mega-analysis of redisorganization theories.

J R Soc Med 2005 Dec;98(12):563-8

Norwegian Centre for Health Services Research, Pb 7004, St Olavs Plass, 0130 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1258/jrsm.98.12.563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1299350PMC
December 2005