Publications by authors named "Julie S Prendiville"

13Publications

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.

J Allergy Clin Immunol 2017 06 19;139(6):2016-2020.e5. Epub 2017 Jan 19.

Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.12.957DOI Listing
June 2017

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Use of propranolol in treating hemangiomas.

Can Fam Physician 2011 Mar;57(3):302-3

Department of Pediatrics, BC Children's Hospital, Vancouver, BC V6H 3V4, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056677PMC
March 2011

Acute onset of generalized pruritic rash in a toddler. Diagnosis: systemic allergic (contact) dermatitis to nickel from ingestion of metal coins.

Pediatr Dermatol 2011 Jan-Feb;28(1):53-4

Division of Pediatric Dermatology, Columbia's Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01367.xDOI Listing
June 2011

Cystic bone lesions in a boy with Darier disease: a magnetic resonance imaging assessment.

J Am Acad Dermatol 2009 Jun;60(6):1062-6

Division of Pediatric Dermatology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3V4, Canada.

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http://dx.doi.org/10.1016/j.jaad.2008.10.049DOI Listing
June 2009

Treatment of cystic lymphatic vascular malformations with OK-432 sclerotherapy.

Plast Reconstr Surg 2006 Nov;118(6):1441-6

Vascular Anomalies Clinic, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1097/01.prs.0000239503.10964.11DOI Listing
November 2006

Cerebellar and cerebral atrophy in trichothiodystrophy.

Pediatr Radiol 2005 Oct 24;35(10):1019-23. Epub 2005 May 24.

Department of Radiology, British Columbia Children's Hospital, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.

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http://dx.doi.org/10.1007/s00247-005-1495-6DOI Listing
October 2005

A pruritic linear urticarial rash, fever, and systemic inflammatory disease in five adolescents: adult-onset still disease or systemic juvenile idiopathic arthritis sine arthritis?

Pediatr Dermatol 2004 Sep-Oct;21(5):580-8

Division of Pediatric Dermatology, Department of Pediatrics, British Columbia's Children's Hospital, Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1111/j.0736-8046.2004.21513.x
Publisher Site
http://dx.doi.org/10.1111/j.0736-8046.2004.21513.xDOI Listing
January 2005

Detection and genotyping of varicella-zoster virus by TaqMan allelic discrimination real-time PCR.

J Clin Microbiol 2004 Apr;42(4):1409-13

Department of Pathology and Laboratory Medicine, University of British Columbia and Children's & Women's Health Centre of British Columbia, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC387589PMC
http://dx.doi.org/10.1128/jcm.42.4.1409-1413.2004DOI Listing
April 2004

Central nervous system involvement in neonatal lupus erythematosus.

Pediatr Dermatol 2003 Jan-Feb;20(1):60-7

Division of Pediatric Dermatology, Department of Pediatrics, British Columbia's Children's Hospital, Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1046/j.1525-1470.2003.03014.x
Publisher Site
http://dx.doi.org/10.1046/j.1525-1470.2003.03014.xDOI Listing
June 2003