Publications by authors named "Trine Prescott"

46Publications

Partial Response to Sorafenib in a Child With a Myeloid/Lymphoid Neoplasm, Eosinophilia, and a ZMYM2-FLT3 Fusion.

J Pediatr Hematol Oncol 2020 Aug 26. Epub 2020 Aug 26.

Departments of *Paediatric Haematology and Oncology ∥Immunology ¶Pathology, Oslo University Hospital, Oslo Departments of †Medicine ‡Medical Genetics, Haukeland University Hospital, Bergen §Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital Trust, Skien #Department of Biosciences, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1097/MPH.0000000000001890DOI Listing
August 2020

Genpaneltesting.

Tidsskr Nor Laegeforen 2020 Feb 10;140(3). Epub 2020 Feb 10.

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http://dx.doi.org/10.4045/tidsskr.19.0535DOI Listing
February 2020

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

A pregnant woman with pancytopenia.

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

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

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.

Genet Med 2019 03 15;21(3):572-579. Epub 2018 Jun 15.

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0079-4DOI Listing
March 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.

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

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.

Am J Med Genet A 2017 May 3;173(5):1447-1449. Epub 2017 Apr 3.

University of Manchester, Division of Evolution and Genomic Science, St Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.38177DOI Listing
May 2017

Predictive testing should be in the child's best interests.

Authors:
Trine Prescott

Tidsskr Nor Laegeforen 2016 Sep 27;136(17):1421. Epub 2016 Sep 27.

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http://dx.doi.org/10.4045/tidsskr.16.0634DOI Listing
September 2016

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

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

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J Clin Endocrinol Metab 2014 Oct 31;99(10):E2138-43. Epub 2014 Jul 31.

EA7331 Faculté des Sciences Pharmaceutiques (S.M., C.D.), 75006 Paris, France; Laboratoire de Biologie et Génétique Moléculaires (J.S., C.L., C.F., C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service de Pédiatrie et de Génétique Médicale (P.P., C.M.), Centre Hospitalier Universitaire Morvan, 29200 Brest, France; Department of Reproduction and Gynecological Endocrinology (S.W.), PL-15-1276 Bialystok, Poland; Service de Génétique (M.G.), Centre Hospitalier Régional Clémenceau, 14033 Caen, France; Service de Génétique Médicale (E.B.), Hôpital Purpan, 31059 Toulouse, France; Service de Pédiatrie (F.K.), Hôpital Bel Air, 57126 Thionville, France; Service d'Edocrinologie (O.V.-M.), Centre Hospitalier, 59322 Valenciennes, France; UF de Génétique Clinique (L.P.), Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Service de Médecine et d'Endocrinologie (F.A.), Hôpital du Cluzeau, 87042 Limoges, France; Service d'Endocrinologie (S.C.), Hôpital Trousseau, and Service d'Endocrinologie (S.C.-M.), Hôpital St Antoine, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France; Service d'Endocrinologie (P.R.), Centre Hospitalier, 49933 Angers, France; Department of Clinical Genetics (H.H.), University Hospital, DK-1165 Copenhagen, Denmark; Department of Medical Genetics (T.P.), Hospital HF Rikshospital, 0424 Oslo, Norway; Service de Génétique Médicale (D.L.), Hôpital Pellegrin, 33076 Bordeaux, France; Service d'Endocrinologie (P.T.), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France; Service d'Endocrinologie (S.H.), Hôpital l'Archet, 06003 Nice, France; Service de Gynécologie Endocrinienne (D.D.), Hôpital Jeanne de Flandre, 59037 Lille, France; Service d'Endocrinologie (J.Y.), Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, 94275 Le Kremlin-Bicêtre, France; and Service d'Endocrinologie (M.P.), Hôpital Neurologiqu

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http://dx.doi.org/10.1210/jc.2014-2110DOI Listing
October 2014

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

Eur J Hum Genet 2015 Apr 9;23(4):494-9. Epub 2014 Jul 9.

1] Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury NHS Foundation Trust, Salisbury, UK.

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http://dx.doi.org/10.1038/ejhg.2014.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247793PMC
April 2015

A diagnostic revolution.

Authors:
Trine Prescott

Tidsskr Nor Laegeforen 2013 Aug;133(15):1550-1

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http://dx.doi.org/10.4045/tidsskr.13.0747DOI Listing
August 2013

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.

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

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

Eur J Med Genet 2013 Mar 5;56(3):131-7. Epub 2013 Jan 5.

Department of Medical Genetics, Oslo University Hospital, P.O. Box 4950, Nydalen, 0424 Oslo, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130000
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http://dx.doi.org/10.1016/j.ejmg.2012.12.008DOI Listing
March 2013

Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly.

Eur J Med Genet 2011 Mar-Apr;54(2):130-5. Epub 2010 Oct 31.

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

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http://dx.doi.org/10.1016/j.ejmg.2010.10.011DOI Listing
August 2011

[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.

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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.

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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.

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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

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.

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

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.

Eur J Med Genet 2008 Nov-Dec;51(6):646-50. Epub 2008 Aug 5.

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

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http://dx.doi.org/10.1016/j.ejmg.2008.07.007DOI Listing
March 2009

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.

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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.

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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.

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

Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.

Eur J Med Genet 2006 Mar-Apr;49(2):135-9. Epub 2005 Aug 11.

Department of Medical Genetics, Rikshospitalet, Forskningsveien 2B, 0407 Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2005.06.005DOI Listing
April 2009

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.

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