Dorien Lugtenberg

Dorien Lugtenberg

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Dorien Lugtenberg

Dorien Lugtenberg

Publications by authors named "Dorien Lugtenberg"

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31Publications

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Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.

Am J Kidney Dis 2019 Mar 18;73(3):400-403. Epub 2018 Sep 18.

Department of Nephrology, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1053/j.ajkd.2018.06.034DOI Listing
March 2019

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology 2018 07 29;155(1):130-143.e15. Epub 2018 Mar 29.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058035PMC
July 2018

midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Res 2018 01 21;28(1):100-110. Epub 2017 Nov 21.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/gr.226621.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749174PMC
January 2018

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Pediatr Rheumatol Online J 2016 May 25;14(1):32. Epub 2016 May 25.

Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.

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http://dx.doi.org/10.1186/s12969-016-0093-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880819PMC
May 2016

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

Clin Dysmorphol 2011 Jul;20(3):136-42

Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283472507DOI Listing
July 2011

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Am J Med Genet A 2009 Feb;149A(4):760-6

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32742DOI Listing
February 2009

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Hum Mutat 2008 Sep;29(9):1125-32

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/humu.20750DOI Listing
September 2008

High-resolution genomic microarrays for X-linked mental retardation.

Genet Med 2007 Sep;9(9):560-5

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097GIM.0b013e318149e647DOI Listing
September 2007

Identity of the RNase MRP- and RNase P-associated Th/To autoantigen.

Arthritis Rheum 2002 Dec;46(12):3266-72

University of Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/art.10673DOI Listing
December 2002