Publications by authors named "Jiddeke van de Kamp"

29Publications

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.12.017DOI Listing
April 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

Neuropediatrics 2015 Dec 4;46(6):392-400. Epub 2015 Nov 4.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0035-1564791DOI Listing
December 2015

An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation.

Clin Dysmorphol 2015 Apr;24(2):68-74

aDepartment of Clinical Genetics, AMC Departments of bClinical Genetics cGynaecology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0000000000000075DOI Listing
April 2015

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Hum Mutat 2014 Sep 15;35(9):1128-35. Epub 2014 Jul 15.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22609DOI Listing
September 2014

X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

J Inherit Metab Dis 2014 Sep 1;37(5):715-33. Epub 2014 May 1.

Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9713-8DOI Listing
September 2014

Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.

Eur J Med Genet 2009 Nov-Dec;52(6):417-20. Epub 2009 Jul 10.

VU University Medical Center, Department of Neonatology, Amsterdam, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900076
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http://dx.doi.org/10.1016/j.ejmg.2009.07.002DOI Listing
February 2010

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

Am J Med Genet A 2007 Dec;143A(24):2944-58

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.32023DOI Listing
December 2007

Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux.

Pediatr Nephrol 2007 Aug 12;22(8):1129-33. Epub 2007 May 12.

Department of Medical Genetics KC.04.084.2, University Medical Centre Utrecht, P.O. Box 85090, 3508 AB, Utrecht, The Netherlands.

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http://link.springer.com/10.1007/s00467-007-0492-4
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http://dx.doi.org/10.1007/s00467-007-0492-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1915619PMC
August 2007

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

Am J Med Genet A 2007 Apr;143A(8):853-7

Genetics and Metabolism Program, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.31446
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http://dx.doi.org/10.1002/ajmg.a.31446DOI Listing
April 2007

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.

Hepatology 2004 Apr;39(4):924-31

Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St. Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/hep.20141DOI Listing
April 2004