Asbjorg Stray-Pedersen

Asbjorg Stray-Pedersen

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Asbjorg Stray-Pedersen

Asbjorg Stray-Pedersen

Publications by authors named "Asbjorg Stray-Pedersen"

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54Publications

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Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency.

Immunol Res 2019 10;67(4-5):450-453

Center for Human Immunobiology-Immunology-Allergy-Rhematology, Texas Children Hospital-Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/s12026-019-09100-zDOI Listing
October 2019

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

J Allergy Clin Immunol 2019 Jul 6;144(1):339-342. Epub 2019 Apr 6.

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jaci.2019.03.025DOI Listing
July 2019

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

J Allergy Clin Immunol 2019 Jun 13;143(6):2296-2299. Epub 2019 Feb 13.

Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677392PMC
June 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

First Case of Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.

Front Pediatr 2017 10;5:17. Epub 2017 Feb 10.

Center for Human Immunobiology, Texas Children's Hospital, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.

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http://journal.frontiersin.org/article/10.3389/fped.2017.000
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http://dx.doi.org/10.3389/fped.2017.00017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300990PMC
February 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:

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

A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.

Mol Genet Genomic Med 2016 Nov 17;4(6):604-616. Epub 2016 Sep 17.

Baylor-Hopkins Center for Mendelian Genomics (BHCMG) of the Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Norwegian National Unit for Newborn ScreeningDivision of Children and Adolescent MedicineOslo University HospitalOsloNorway.

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http://dx.doi.org/10.1002/mgg3.237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118205PMC
November 2016

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.

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

A dominant STIM1 mutation causes Stormorken syndrome.

Hum Mutat 2014 May 9;35(5):556-64. Epub 2014 Apr 9.

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

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http://dx.doi.org/10.1002/humu.22544DOI Listing
May 2014

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Brain 2009 Jun 31;132(Pt 6):1577-88. Epub 2009 Mar 31.

Department of Neurology, Ullevål University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1093/brain/awp056DOI Listing
June 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.

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

Post-neonatal drop in alveolar SP-A expression: biological significance for increased vulnerability to SIDS?

Pediatr Pulmonol 2008 Feb;43(2):160-8

Institute of Forensic Medicine, University of Oslo, Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1002/ppul.20750DOI Listing
February 2008

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

Acta Ophthalmol Scand 2007 Aug 22;85(5):557-62. Epub 2007 Mar 22.

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

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http://doi.wiley.com/10.1111/j.1600-0420.2007.00890.x
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http://dx.doi.org/10.1111/j.1600-0420.2007.00890.xDOI Listing
August 2007

Coping, quality of life, and hope in adults with primary antibody deficiencies.

Health Qual Life Outcomes 2005 May 4;3:31. Epub 2005 May 4.

Centre for Rare Disorders, Rikshospitalet University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1186/1477-7525-3-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1177979PMC
May 2005

Chronic mucocutaneous candidiasis and primary hypothyroidism in two families.

Eur J Pediatr 2004 Oct;163(10):604-11

Department of Paediatrics, Akershus University Hospital, Nordbyhagen, Norway.

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http://dx.doi.org/10.1007/s00431-004-1516-8DOI Listing
October 2004

[Patients with severe chronic neutropenia].

Tidsskr Nor Laegeforen 2003 Mar;123(5):621-3

Medisinske fakultet Universitetet i Oslo 0316 Oslo.

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March 2003

[Chronic neutropenia--subtypes and treatment].

Tidsskr Nor Laegeforen 2003 Mar;123(5):624-6

Medisinske fakultet Universitetet i Oslo 0316 Oslo.

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March 2003