Publications by authors named "Yvette van Ierland"

13Publications

Growth charts in Cockayne syndrome type 1 and type 2.

Authors:
Sarah Baer Nicolas Tuzin Peter B Kang Shehla Mohammed Masaya Kubota Yvette van Ierland Tiffany Busa Massimiliano Rossi Godelieve Morel Caroline Michot Geneviève Baujat Myriam Durand Cathy Obringer Nicolas Le May Nadège Calmels Vincent Laugel

Eur J Med Genet 2020 Nov 20:104105. Epub 2020 Nov 20.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, France.

View Article and Find Full Text PDF
November 2020

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Authors:
Lisa Lenaerts Sara Reynhout Iris Verbinnen Frédéric Laumonnier Annick Toutain Frédérique Bonnet-Brilhault Yana Hoorne Shelagh Joss Anna K Chassevent Constance Smith-Hicks Bart Loeys Pascal Joset Katharina Steindl Anita Rauch Sarju G Mehta Wendy K Chung Koenraad Devriendt Susan E Holder Tamison Jewett Lauren M Baldwin William G Wilson Shelley Towner Siddharth Srivastava Hannah F Johnson Cornelia Daumer-Haas Martina Baethmann Anna Ruiz Elisabeth Gabau Vani Jain Vinod Varghese Ali Al-Beshri Stephen Fulton Oded Wechsberg Naama Orenstein Katrina Prescott Anne-Marie Childs Laurence Faivre Sébastien Moutton Jennifer A Sullivan Vandana Shashi Suzanne M Koudijs Malou Heijligers Emma Kivuva Amy McTague Alison Male Yvette van Ierland Barbara Plecko Isabelle Maystadt Rizwan Hamid Vickie L Hannig Gunnar Houge Veerle Janssens

Genet Med 2020 Oct 27. Epub 2020 Oct 27.

Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.

View Article and Find Full Text PDF
October 2020

Correction: Putting genome-wide sequencing in neonates into perspective.

Authors:
Pleuntje J van der Sluijs Emmelien Aten Daniela Q C M Barge-Schaapveld Emilia K Bijlsma Regina Bökenkamp-Gramann Laura Donker Kaat Remco van Doorn Dietje Fransen van de Putte Arie van Haeringen Arend D J Ten Harkel Yvonne Hilhorst-Hofstee Mariette J V Hoffer Nicolette S den Hollander Yvette van Ierland Marije Koopmans Marjolein Kriek Setareh Moghadasi Esther A R Nibbeling Cacha M P C D Peeters-Scholte Thomas P Potjer Maartje van Rij Claudia A L Ruivenkamp Julie W Rutten Sylke J Steggerda Manon Suerink Ratna N G B Tan Karin van der Tuin Remco Visser Anne-Sophie van der Werf-'t Lam Monique Williams Ruben Witlox Gijs W E Santen

Genet Med 2019 Sep;21(9):2159-2164

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article and Find Full Text PDF
September 2019

Putting genome-wide sequencing in neonates into perspective.

Authors:
Pleuntje J van der Sluijs Emmelien Aten Daniela Q C M Barge-Schaapveld Emilia K Bijlsma Regina Bökenkamp-Gramann Laura Donker Kaat Remco van Doorn Dietje Fransen van de Putte Arie van Haeringen Arend D J Ten Harkel Yvonne Hilhorst-Hofstee Mariette J V Hoffer Nicolette S den Hollander Yvette van Ierland Marije Koopmans Marjolein Kriek Setareh Moghadasi Esther A R Nibbeling Cacha M P C D Peeters-Scholte Thomas P Potjer Maartje van Rij Claudia A L Ruivenkamp Julie W Rutten Sylke J Steggerda Manon Suerink Ratna N G B Tan Karin van der Tuin Remco Visser Anne-Sophie van der Werf-'t Lam Monique Williams Ruben Witlox Gijs W E Santen

Genet Med 2019 05 5;21(5):1074-1082. Epub 2018 Oct 5.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article and Find Full Text PDF
May 2019

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Authors:
Miguel de la Hoya Omar Soukarieh Irene López-Perolio Ana Vega Logan C Walker Yvette van Ierland Diana Baralle Marta Santamariña Vanessa Lattimore Juul Wijnen Philip Whiley Ana Blanco Michela Raponi Jan Hauke Barbara Wappenschmidt Alexandra Becker Thomas V O Hansen Raquel Behar KConFaB Investigators Diether Niederacher Norbert Arnold Bernd Dworniczak Doris Steinemann Ulrike Faust Wendy Rubinstein Peter J Hulick Claude Houdayer Sandrine M Caputo Laurent Castera Tina Pesaran Elizabeth Chao Carole Brewer Melissa C Southey Christi J van Asperen Christian F Singer Jan Sullivan Nicola Poplawski Phuong Mai Julian Peto Nichola Johnson Barbara Burwinkel Harald Surowy Stig E Bojesen Henrik Flyger Annika Lindblom Sara Margolin Jenny Chang-Claude Anja Rudolph Paolo Radice Laura Galastri Janet E Olson Emily Hallberg Graham G Giles Roger L Milne Irene L Andrulis Gord Glendon Per Hall Kamila Czene Fiona Blows Mitul Shah Qin Wang Joe Dennis Kyriaki Michailidou Lesley McGuffog Manjeet K Bolla Antonis C Antoniou Douglas F Easton Fergus J Couch Sean Tavtigian Maaike P Vreeswijk Michael Parsons Huong D Meeks Alexandra Martins David E Goldgar Amanda B Spurdle

Hum Mol Genet 2016 06 23;25(11):2256-2268. Epub 2016 Mar 23.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia

View Article and Find Full Text PDF
June 2016

Translation of clinical prediction rules for febrile children to primary care practice: an observational cohort study.

Authors:
Yvette van Ierland Gijs Elshout Marjolein Y Berger Yvonne Vergouwe Marcel de Wilde Johan van der Lei Henriëtte A Mol Rianne Oostenbrink

Br J Gen Pract 2015 Apr;65(633):e224-33

Department of General Paediatrics, ErasmusMC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands.

View Article and Find Full Text PDF
April 2015

Alarming signs and symptoms in febrile children in primary care: an observational cohort study in The Netherlands.

Authors:
Gijs Elshout Yvette van Ierland Arthur M Bohnen Marcel de Wilde Henriëtte A Moll Rianne Oostenbrink Marjolein Y Berger

PLoS One 2014 19;9(2):e88114. Epub 2014 Feb 19.

Department of General Practice, University Groningen, University Medical Center Groningen, Groningen, the Netherlands.

View Article and Find Full Text PDF
December 2014

Use of alarm features in referral of febrile children to the emergency department: an observational study.

Authors:
Yvette van Ierland Gijs Elshout Henriëtte A Moll Ruud G Nijman Yvonne Vergouwe Johan van der Lei Marjolein Y Berger Rianne Oostenbrink

Br J Gen Pract 2014 Jan;64(618):e1-9

Department of General Paediatrics, ErasmusMC - Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article and Find Full Text PDF
January 2014

Alarm signs and antibiotic prescription in febrile children in primary care: an observational cohort study.

Authors:
Gijs Elshout Yvette van Ierland Arthur M Bohnen Marcel de Wilde Rianne Oostenbrink Henriëtte A Moll Marjolein Y Berger

Br J Gen Pract 2013 Jul;63(612):e437-44

Department of General Practice, Erasmus MC, Rotterdam, The Netherlands.

View Article and Find Full Text PDF
July 2013

Alarming signs in the Manchester triage system: a tool to identify febrile children at risk of hospitalization.

Authors:
Yvette van Ierland Nienke Seiger Mirjam van Veen Henriëtte A Moll Rianne Oostenbrink

J Pediatr 2013 Apr 10;162(4):862-866.e3. Epub 2012 Nov 10.

Department of General Pediatrics, Erasmus MC/Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article and Find Full Text PDF
April 2013

Self-referral and serious illness in children with fever.

Authors:
Yvette van Ierland Nienke Seiger Mirjam van Veen Alfred H J van Meurs Madelon Ruige Rianne Oostenbrink Henriëtte A Moll

Pediatrics 2012 Mar 27;129(3):e643-51. Epub 2012 Feb 27.

Department of General Pediatrics, Erasmus MC/Sophia Children’s Hospital, Rotterdam, Netherlands.

View Article and Find Full Text PDF
March 2012

Validity of telephone and physical triage in emergency care: the Netherlands Triage System.

Authors:
Yvette van Ierland Mirjam van Veen Linda Huibers Paul Giesen Henriëtte A Moll

Fam Pract 2011 Jun 24;28(3):334-41. Epub 2010 Nov 24.

Department of General Paediatrics, Erasmus University Medical Center--Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article and Find Full Text PDF
June 2011

Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort.

Authors:
Catharina E Jacobi Yvette van Ierland Christi J van Asperen Eric Hallensleben Peter Devilee Gert Jan Fleuren Gemma G Kenter

Genet Med 2007 Mar;9(3):173-9

Departments of Medical Decision Making, Leiden University Medical Center, Leiden, The Netherlands.

View Article and Find Full Text PDF
March 2007