Julie Prendiville

Julie Prendiville

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Julie Prendiville

Julie Prendiville

Publications by authors named "Julie Prendiville"

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31Publications

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Recurrent sterile abscesses in a case of X-linked neutropenia.

Pediatr Dermatol 2020 Mar 23. Epub 2020 Mar 23.

Division of Allergy & Immunology, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1111/pde.14146DOI Listing
March 2020

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.

Am J Hum Genet 2019 11 17;105(5):1023-1029. Epub 2019 Oct 17.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849088PMC
November 2019

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

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.

Pediatrics 2015 Jul 8;136(1):e203-14. Epub 2015 Jun 8.

Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://pediatrics.aappublications.org/content/pediatrics/136
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http://dx.doi.org/10.1542/peds.2014-3673DOI Listing
July 2015

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

Combined immunodeficiency associated with homozygous MALT1 mutations.

J Allergy Clin Immunol 2014 May 12;133(5):1458-62, 1462.e1-7. Epub 2013 Dec 12.

Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.10.045DOI Listing
May 2014

Successful approach to treatment of Helicobacter bilis infection in X-linked agammaglobulinemia.

J Clin Immunol 2012 Dec 28;32(6):1404-8. Epub 2012 Jul 28.

Department of Pediatrics, BC Children's Hospital and Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1007/s10875-012-9750-8DOI Listing
December 2012

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

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

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

A comparison of disease severity among affected male versus female patients with PHACE syndrome.

J Am Acad Dermatol 2008 Jan 29;58(1):81-7. Epub 2007 Oct 29.

Department of Dermatology at Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1016/j.jaad.2007.09.009DOI Listing
January 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?

Pediatr Dermatol 2007 Mar-Apr;24(2):101-7

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

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http://doi.wiley.com/10.1111/j.1525-1470.2007.00352.x
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http://dx.doi.org/10.1111/j.1525-1470.2007.00352.xDOI Listing
July 2007

Quiz page. Acute rheumatic fever with concomitant poststreptococcal glomerulonephritis.

Am J Kidney Dis 2007 Jul;50(1):A33-5

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

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http://dx.doi.org/10.1053/j.ajkd.2007.04.001DOI Listing
July 2007

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

Old challenges and new directions in pediatric rheumatology.

J Rheumatol 2006 Jan;33(1):173-84

Department of Rheumatology, Division of Pediatrics, B.C. Children's Hospital, University of British Columbia (UBC), Vancouver, BC, Canada.

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January 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

Subcutaneous panniculitic T-cell lymphoma in children: response to combination therapy with cyclosporine and chemotherapy.

J Am Acad Dermatol 2004 Feb;50(2 Suppl):S18-22

Division of Dermatology, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1016/s0190-9622(03)00746-1DOI Listing
February 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
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http://dx.doi.org/10.1046/j.1525-1470.2003.03014.xDOI Listing
June 2003

Stevens-Johnson syndrome and toxic epidermal necrolysis.

Adv Dermatol 2002 ;18:151-73

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

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February 2003

Rheumatic manifestations of Bartonella infection in 2 children.

J Rheumatol 2002 Jan;29(1):184-6

Department of Pediatrics and Radiology, University of British Columbia at British Columbia's Children's Hospital, Vancouver, Canada.

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January 2002